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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut SCNN1G 6340 broad.mit.edu 37 16 23203735 23203735 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:23203735G>A uc002dlm.1 + 3 820 c.681G>A c.(679-681)caG>caA p.Q227Q NM_001039 NP_001030 P51170 SCNNG_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA. 227 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane WW domain binding|ligand-gated sodium channel activity NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) ATGCCATTCAGGAGTGGTATA 0.502000 140 11 0 0 1 0 0 OR56A5 390084 broad.mit.edu 37 11 5989583 5989583 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:5989583G>A uc010qzu.2 - 0 142 c.142C>T c.(142-144)Ctt>Ttt p.L48F NM_001146033 NP_001139505 P0C7T3 O56A5_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA. 48 integral to membrane|plasma membrane olfactory receptor activity GTGATCAGAAGGGTGGCATTG 0.577000 47 4 0 0 1 0 0 PRSS50 29122 broad.mit.edu 37 3 46755771 46755772 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:46755771_46755772CC>TT uc003cqe.1 - 3 1172_1173 c.690_691GG>AA c.(688-693)acggac>acAAac p.D231N PRSS50_uc021wxe.1_Missense_Mutation_p.D231N|PRSS50_uc003cqf.2_Missense_Mutation_p.D145N NM_013270 NP_037402 Q9UI38 TSP50_HUMAN Homo sapiens protease, serine, 50 (PRSS50), mRNA. 231 Peptidase S1. proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity p.T230M(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 AACACATAGTCCGTGCCAGGCA 0.604000 112 5 0 0 1 0 0 SF3B3 23450 broad.mit.edu 37 16 70599145 70599145 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:70599145C>T uc002ezf.3 + 18 2852 c.2641C>T c.(2641-2643)Cag>Tag p.Q881* NM_012426 NP_036558 Q15393 SF3B3_HUMAN Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA. 881 protein complex assembly U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) GGACCTTGTCCAGCTGGAACA 0.537000 55 9 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48694934 48694934 + Splice_Site SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:48694934T>C uc002irk.1 + 29 5527 c.5155_splice c.e29+2 p.V1719_splice CACNA1G_uc002irj.1_Splice_Site_p.V1685_splice|CACNA1G_uc002irl.1_Splice_Site_p.V1696_splice|CACNA1G_uc002irm.1_Splice_Site_p.V1685_splice|CACNA1G_uc002irn.1_Splice_Site_p.V1678_splice|CACNA1G_uc002iro.1_Splice_Site_p.V1685_splice|CACNA1G_uc002irp.1_Splice_Site_p.V1719_splice|CACNA1G_uc002irq.1_Splice_Site_p.V1696_splice|CACNA1G_uc002irr.1_Splice_Site_p.V1719_splice|CACNA1G_uc002irs.1_Splice_Site_p.V1708_splice|CACNA1G_uc002irt.1_Splice_Site_p.V1701_splice|CACNA1G_uc002iru.1_Splice_Site_p.V1685_splice|CACNA1G_uc002irv.1_Splice_Site_p.V1708_splice|CACNA1G_uc002irw.1_Splice_Site_p.V1696_splice|CACNA1G_uc002irx.1_Splice_Site_p.V1632_splice|CACNA1G_uc002iry.1_Splice_Site_p.V1621_splice|CACNA1G_uc002isg.1_Splice_Site_p.V1580_splice|CACNA1G_uc002ish.1_Splice_Site_p.V1587_splice|CACNA1G_uc002isi.1_Splice_Site_p.V1575_splice|CACNA1G_uc002irz.1_Splice_Site_p.V1632_splice|CACNA1G_uc002isa.1_Splice_Site_p.V1598_splice|CACNA1G_uc002isd.1_Splice_Site_p.V1614_splice|CACNA1G_uc002isb.1_Splice_Site_p.V1639_splice|CACNA1G_uc002isc.1_Splice_Site_p.V1621_splice|CACNA1G_uc002ise.1_Splice_Site_p.V1587_splice|CACNA1G_uc002isf.1_Splice_Site_p.V1614_splice NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 1719 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TTGCCCGAGGTTGGTGCCCAG 0.642000 59 7 0 0 1 0 0 AQP9 366 broad.mit.edu 37 15 58471452 58471452 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:58471452G>A uc002aez.2 + 4 978 c.621G>A c.(619-621)ctG>ctA p.L207L ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Silent_p.L142L NM_020980 NP_066190 O43315 AQP9_HUMAN Homo sapiens aquaporin 9 (AQP9), mRNA. 207 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) CTTCCTCCCTGGGACTGAACA 0.532000 27 5 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430789 37430789 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:37430789G>A uc021ppc.1 + 6 895 c.796G>A c.(796-798)Gaa>Aaa p.E266K ANKRD30A_uc001iza.1_Missense_Mutation_p.E266K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 322 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAGCTTGGTGGAAAAAACACC 0.478000 36 3 0 0 1 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30951849 30951849 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:30951849G>A uc003aig.1 - 3 503 c.363C>T c.(361-363)ttC>ttT p.F121F GAL3ST1_uc003aih.1_Silent_p.F121F|GAL3ST1_uc003aii.1_Silent_p.F121F|GAL3ST1_uc010gvz.1_Silent_p.F121F NM_004861 NP_004852 Q99999 G3ST1_HUMAN Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA. 121 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 GGCTGCGGGCGAAGAAGGTCG 0.627000 173 14 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38976650 38976650 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:38976650G>A uc021yzh.1 + 88 13384 c.13275G>A c.(13273-13275)gaG>gaA p.E4425E DNAH8_uc003ooe.2_Silent_p.E4208E NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AACCCAAAGAGAGTGGAGGTG 0.418000 163 14 0 0 1 0 0 PHC2 1912 broad.mit.edu 37 1 33797021 33797021 + Missense_Mutation SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:33797021A>C uc009vuh.1 - 11 2423 c.1934T>G c.(1933-1935)cTc>cGc p.L645R PHC2_uc001bxg.1_Missense_Mutation_p.L644R|PHC2_uc001bxh.1_Missense_Mutation_p.L616R|PHC2_uc001bxe.1_Missense_Mutation_p.L109R|PHC2_uc001bxf.1_Missense_Mutation_p.L59R NM_198040 NP_932157 Q8IXK0 PHC2_HUMAN Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA. 644 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCGGCCACAGAGCTCACACTT 0.527000 162 18 0 0 1 0 0 TAPBP 6892 broad.mit.edu 37 6 33271739 33271739 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:33271739G>A uc003odx.2 - 6 1674 c.1328C>T c.(1327-1329)tCa>tTa p.S443L TAPBP_uc010jut.2_Missense_Mutation_p.S356L|TAPBP_uc003odz.3_Missense_Mutation_p.S443L|TAPBP_uc003ody.3_3'UTR NM_003190 NP_003181 O15533 TPSN_HUMAN Homo sapiens TAP binding protein (tapasin) (TAPBP), transcript variant 1, mRNA. 443 antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|TAP1 binding|TAP2 binding|peptide antigen binding|peptide antigen-transporting ATPase activity|unfolded protein binding endometrium(2)|large_intestine(5)|lung(8)|ovary(3) 18 TACCTTCTTTGAATCCTTGCA 0.532000 110 16 0 0 1 0 0 CBS 875 broad.mit.edu 37 21 44483156 44483156 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:44483156G>A uc002zcu.2 - 9 1106 c.861C>T c.(859-861)ctC>ctT p.L287L CBS_uc002zcs.1_Silent_p.L182L|CBS_uc002zct.2_Silent_p.L287L|CBS_uc002zcw.3_Silent_p.L287L|CBS_uc002zcv.2_Silent_p.L287L NM_000071 NP_001171480 P35520 CBS_HUMAN Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA. 287 L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8) 17 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) CCGGCTCTGCGAGGATGGACC 0.612000 139 17 0 0 1 0 0 ACRBP 84519 broad.mit.edu 37 12 6753577 6753577 + Missense_Mutation SNP C G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:6753577C>G uc001qpu.1 - 4 718 c.670G>C c.(670-672)Gag>Cag p.E224Q ACRBP_uc010sfg.1_Missense_Mutation_p.E191Q NM_032489 NP_115878 Q8NEB7 ACRBP_HUMAN Homo sapiens acrosin binding protein (ACRBP), mRNA. 224 acrosomal vesicle|extracellular region NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1) 17 tcctgttcctcttcttgctct 0.567000 33 6 0 0 1 0 0 OR2B11 127623 broad.mit.edu 37 1 247614472 247614472 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:247614472G>A uc010pyx.2 - 0 813 c.813C>T c.(811-813)tcC>tcT p.S271S NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA. 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CCTGCTCTTGGGAGTAGCTGG 0.493000 154 14 0 0 1 0 0 TNS4 84951 broad.mit.edu 37 17 38644975 38644975 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:38644975G>A uc010cxb.3 - 2 850 c.686C>T c.(685-687)cCc>cTc p.P229L NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN Homo sapiens tensin 4 (TNS4), mRNA. 229 Ser-rich. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding p.S228F(3) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) TGAGATGCTGGGGGAATTTGG 0.652000 23 4 0 0 1 0 0 ISYNA1 51477 broad.mit.edu 37 19 18547641 18547641 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:18547641C>T uc002njd.2 - 4 680 c.462G>A c.(460-462)gcG>gcA p.A154A ISYNA1_uc002nja.2_Silent_p.A26A|ISYNA1_uc002njb.2_Silent_p.A4A|ISYNA1_uc002njc.2_Silent_p.A4A|ISYNA1_uc010xqh.2_Intron|ISYNA1_uc002nje.2_Silent_p.A100A NM_016368 NP_001164410 Q9NPH2 INO1_HUMAN Homo sapiens inositol-3-phosphate synthase 1 (ISYNA1), transcript variant 1, mRNA. 154 inositol biosynthetic process|phospholipid biosynthetic process cytoplasm binding|inositol-3-phosphate synthase activity breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 12 CCAGCACCTTCGCGCGCCGCA 0.697000 20 4 0 0 1 0 0 NUFIP1 26747 broad.mit.edu 37 13 45554049 45554049 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:45554049C>T uc001uzp.2 - 3 675 c.633G>A c.(631-633)aaG>aaA p.K211K NM_012345 NP_036477 Q9UHK0 NUFP1_HUMAN Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA. 211 RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3) 18 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) ACTGGACAATCTTCTCGTGTG 0.284000 47 5 0 0 1 0 0 ZNF488 118738 broad.mit.edu 37 10 48370683 48370683 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:48370683G>A uc001jex.3 + 1 313 c.151G>A c.(151-153)Gag>Aag p.E51K ZNF488_uc021ppx.1_Missense_Mutation_p.E51K NM_153034 NP_694579 Q96MN9 ZN488_HUMAN Homo sapiens zinc finger protein 488 (ZNF488), mRNA. 51 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 AGTGCTGCTCGAGAAGACGAA 0.677000 104 9 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51752041 51752041 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:51752041G>A uc001ryk.2 - 7 1598 c.1373C>T c.(1372-1374)tCc>tTc p.S458F GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.S458F|GALNT6_uc001ryj.1_Missense_Mutation_p.S23F NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA. 458 protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GTCACCGAAGGATTTCTGTCA 0.473000 116 16 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113520098 113520098 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:113520098G>A uc010ljy.1 - 3 1080 c.1049C>T c.(1048-1050)cCa>cTa p.P350L NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 350 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TGCTTTATTTGGAAAATTGAC 0.373000 113 9 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33629411 33629411 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:33629411C>T uc001uus.3 + 2 1566 c.1558C>T c.(1558-1560)Ccc>Tcc p.P520S KL_uc001uur.1_Missense_Mutation_p.P213S NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN Homo sapiens klotho (KL), mRNA. 520 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding p.P520S(2) breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) AGGGACATTTCCCTGTGACTT 0.438000 72 6 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63206669 63206669 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:63206669G>A uc002jfe.3 + 16 1556 c.1353G>A c.(1351-1353)caG>caA p.Q451Q RGS9_uc021ubw.1_Silent_p.Q448Q|RGS9_uc010dem.3_Silent_p.Q448Q|RGS9_uc002jfd.3_Silent_p.Q448Q|RGS9_uc002jfg.3_Silent_p.Q222Q NM_003835 NP_003826 O75916 RGS9_HUMAN Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA. 451 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 TCCTGAGACAGCTGGAAGAGG 0.577000 99 10 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45293975 45293975 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:45293975A>G uc010olf.2 - 12 1714 c.1702T>C c.(1702-1704)Ttc>Ctc p.F568L PTCH2_uc021omv.1_Missense_Mutation_p.F568L|PTCH2_uc010olg.2_Missense_Mutation_p.F266L NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA. 568 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) TACCTGGAGAAGCAGCAGAGC 0.627000 Basal Cell Nevus syndrome 46 3 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150832797 150832797 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:150832797G>A uc004fev.4 + 10 1380 c.1048G>A c.(1048-1050)Ggg>Agg p.G350R NM_173493 NP_775764 Q8IV76 PASD1_HUMAN Homo sapiens PAS domain containing 1 (PASD1), mRNA. 350 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) AGTGGACCTGGGGGCTGCTGG 0.567000 9 3 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154250708 154250708 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:154250708G>A uc004fmt.3 - 0 291 c.120C>T c.(118-120)ctC>ctT p.L40L F8_uc011mzx.1_Intron NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 40 F5/8 type A 1.|Plastocyanin-like 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GCAGCTCACCGAGATCACTTT 0.522000 159 39 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23826179 23826179 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:23826179C>T uc003sws.4 + 18 2394 c.2327C>T c.(2326-2328)aCc>aTc p.T776I STK31_uc003swt.4_Missense_Mutation_p.T753I|STK31_uc011jze.2_Missense_Mutation_p.T776I|STK31_uc010kuq.3_Missense_Mutation_p.T753I|STK31_uc003swv.1_5'Flank NM_031414 NP_116562 Q9BXU1 STK31_HUMAN Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA. 776 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity p.A775V(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AGAGCAGCCACCTACCATAGA 0.423000 55 5 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152279836 152279836 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:152279836C>T uc001ezu.1 - 2 7562 c.7526G>A c.(7525-7527)gGa>gAa p.G2509E NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 2509 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTTCTGGATCCTGAGTGCCC 0.557000 Ichthyosis 531 49 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247582291 247582291 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:247582291G>A uc001icr.3 + 2 333 c.195G>A c.(193-195)gaG>gaA p.E65E NLRP3_uc001ics.3_Silent_p.E65E|NLRP3_uc001icu.3_Silent_p.E65E|NLRP3_uc001icw.3_Silent_p.E65E|NLRP3_uc001icv.3_Silent_p.E65E|NLRP3_uc010pyw.2_Silent_p.E63E|NLRP3_uc001ict.1_Silent_p.E63E NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 65 DAPIN. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) ATGGGGAGGAGAAGGCGTGGG 0.562000 50 5 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256856 69256856 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:69256856G>A uc021rve.1 - 2 712 c.618C>T c.(616-618)ttC>ttT p.F206F ZFP36L1_uc001xki.2_Silent_p.F137F|ZFP36L1_uc001xkh.2_Silent_p.F137F NM_001244701 NP_001231630 Q07352 TISB_HUMAN Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA. 137 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TGCCGTGTGCGAACTGGCACT 0.647000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 217 24 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211542647 211542647 + Missense_Mutation SNP C T T rs138125466 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:211542647C>T uc010fur.3 + 38 4541 c.4459C>T c.(4459-4461)Cgc>Tgc p.R1487C CPS1_uc002vee.4_Missense_Mutation_p.R1481C|CPS1_uc010fus.3_Missense_Mutation_p.R1030C NM_001122633 NP_001116105 P31327 CPSM_HUMAN Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 1481 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GCAGAAATCTCGCAAGGTGGA 0.423000 256 12 0 0 1 0 0 LRRC8E 80131 broad.mit.edu 37 19 7965092 7965092 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:7965092G>A uc002mir.3 + 2 1786 c.1685G>A c.(1684-1686)aGg>aAg p.R562K NM_025061 NP_079337 Q6NSJ5 LRC8E_HUMAN Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA. 562 integral to membrane breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10) 35 CACCTGCAGAGGCTCAGCCTG 0.662000 63 4 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54403597 54403597 + Silent SNP C T T rs146308617 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:54403597C>T uc002iun.1 + 2 113 c.78C>T c.(76-78)ttC>ttT p.F26F NM_153228 NP_694960 Q8N957 ANKF1_HUMAN Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA. 26 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 GAAGGAGATTCGCTTGCTTTG 0.413000 68 4 0 0 1 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247224 142247224 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142247224C>T uc003vyd.4 - 1 257 c.232G>A c.(232-234)Ggg>Agg p.G78R TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron SubName: Full=V_segment translation product; Flags: Fragment; TTGGGCAGCCCTGAGTCATCT 0.557000 62 6 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3209758 3209758 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:3209758C>T uc010zqe.2 - 15 2255 c.2130G>A c.(2128-2130)gtG>gtA p.V710V SLC4A11_uc002wig.3_Silent_p.V683V|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.V667V NM_001174090 NP_001167561 Q8NBS3 S4A11_HUMAN Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA. 683 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 CCGGTGCATTCACCAAGGCGG 0.667000 27 3 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38752383 38752383 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:38752383G>A uc003ciq.3 - 22 4095 c.4095C>T c.(4093-4095)acC>acT p.T1365T NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1365 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AGCCTTTAAAGGTTGCCTGGA 0.552000 26 6 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116757052 116757052 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:116757052G>A uc011ebg.2 + 5 1577 c.1478G>A c.(1477-1479)gGg>gAg p.G493E DSE_uc003pws.3_Missense_Mutation_p.G474E|DSE_uc003pwt.3_Missense_Mutation_p.G474E|DSE_uc003pwu.3_Missense_Mutation_p.G141E NM_013352 NP_037484 Q9UL01 DSE_HUMAN Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA. 474 dermatan sulfate biosynthetic process Golgi apparatus|endoplasmic reticulum|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) GCTCTGTACGGGCCAAAGTAC 0.448000 48 7 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64684437 64684437 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:64684437C>T uc001obx.3 - 1 286 c.171_splice c.e1+1 p.W57_splice ATG2A_uc010rnt.1_Splice_Site_p.W57_splice NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA. 57 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GGCTCCTCACCCAGATTTCCA 0.647000 37 4 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366416 248366416 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:248366416G>A uc010pzg.2 + 0 47 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G16E(2)|p.L15L(1) endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 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;0.0245) ATCCTCCTGGGAATCTTCAAT 0.463000 213 8 0 0 1 0 0 DUSP26 78986 broad.mit.edu 37 8 33451266 33451266 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:33451266C>T uc003xjp.3 - 3 555 c.222_splice c.e3-1 p.Q74_splice DUSP26_uc003xjq.3_Splice_Site_p.Q74_splice NM_024025 NP_076930 Q9BV47 DUS26_HUMAN Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA. 74 Tyrosine-protein phosphatase. Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) AGCCATGTCCCTGCATTGAGT 0.567000 57 3 0 0 1 0 0 NAA60 79903 broad.mit.edu 37 16 3529541 3529541 + Missense_Mutation SNP G T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:3529541G>T uc002cvh.4 + 3 427 c.181G>T c.(181-183)Ggt>Tgt p.G61C NAA60_uc010uxb.1_Missense_Mutation_p.G68C|NAA60_uc010btk.1_5'UTR|NAA60_uc010btl.3_5'UTR|NAA60_uc021tcf.1_Missense_Mutation_p.G61C|NAA60_uc010btm.3_Missense_Mutation_p.G61C|NAA60_uc010uxd.2_Non-coding_Transcript|NAA60_uc010uxe.2_Non-coding_Transcript|NAA60_uc002cvg.2_Missense_Mutation_p.G61C NM_001083601 NP_079121 Q9H7X0 NAT15_HUMAN Homo sapiens N(alpha)-acetyltransferase 60, NatF catalytic subunit (NAA60), transcript variant 1, mRNA. 61 N-acetyltransferase. N-acetyltransferase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1) 7 AACCTACAGAGGTGCCATTGT 0.443000 56 8 1.33987e-11 1.35571e-11 1 1 0 HIF3A 64344 broad.mit.edu 37 19 46815879 46815879 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:46815879G>A uc002peh.3 + 7 1025 c.994G>A c.(994-996)Gag>Aag p.E332K HIF3A_uc002pef.2_3'UTR|HIF3A_uc002peg.4_Missense_Mutation_p.E332K|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.E276K|HIF3A_uc002pej.2_Missense_Mutation_p.E263K|HIF3A_uc010xxy.2_Missense_Mutation_p.E263K|HIF3A_uc002pel.3_Missense_Mutation_p.E330K|HIF3A_uc010xxz.2_Missense_Mutation_p.E281K NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA. 332 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CCCCCAGTCGGAGAGTATCGT 0.607000 128 9 0 0 1 0 0 C6orf15 29113 broad.mit.edu 37 6 31079879 31079879 + Missense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:31079879C>A uc003nsk.1 - 1 257 c.257G>T c.(256-258)gGc>gTc p.G86V PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank NM_014070 NP_054789 Q6UXA7 CF015_HUMAN Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA. 86 endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 AGGTGGGAAGCCATCTGATGC 0.602000 58 7 7.48243e-07 7.54568e-07 1 1 0 SCRT2 85508 broad.mit.edu 37 20 644918 644918 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:644918G>A uc002wec.3 - 1 899 c.321C>T c.(319-321)tcC>tcT p.S107S SRXN1_uc002web.3_Intron NM_033129 NP_149120 Q9NQ03 SCRT2_HUMAN Homo sapiens scratch homolog 2, zinc finger protein (Drosophila) (SCRT2), mRNA. 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|liver(1)|ovary(1) 3 AGGCGTCCATGGAGTAGCTGT 0.781000 26 3 0 0 1 0 0 FIBIN 387758 broad.mit.edu 37 11 27016436 27016436 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:27016436G>A uc001mrd.3 + 0 809 c.363G>A c.(361-363)cgG>cgA p.R121R NM_203371 NP_976249 Q8TAL6 FIBIN_HUMAN Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA. 121 Golgi apparatus|extracellular region breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 ACCTGCGGCGGGAGTCCCACC 0.617000 96 8 0 0 1 0 0 CES1 1066 broad.mit.edu 37 16 55855409 55855409 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:55855409C>T uc002eim.3 - 4 669 c.561G>A c.(559-561)ggG>ggA p.G187G CES1_uc002eil.3_Silent_p.G188G|CES1_uc002ein.3_Silent_p.G187G NM_001025194 NP_001020365 P23141 EST1_HUMAN Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA. 187 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) GACCCCAGTTCCCCCGGCTGT 0.597000 67 6 0 0 1 0 0 RCN1 5954 broad.mit.edu 37 11 32124957 32124957 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:32124957C>T uc010reb.2 + 4 1085 c.819C>T c.(817-819)atC>atT p.I273I RCN1_uc021qfp.1_Silent_p.I107I|RCN1_uc001mtk.3_Silent_p.I107I NM_002901 NP_002892 Q15293 RCN1_HUMAN Homo sapiens reticulocalbin 1, EF-hand calcium binding domain (RCN1), mRNA. 273 EF-hand 5. endoplasmic reticulum lumen calcium ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6) 17 Lung SC(675;0.225) GCCACTGGATCCTCCCTCAAG 0.458000 87 6 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1513946 1513946 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:1513946G>A uc003wpl.3 + 2 1185 c.1088G>A c.(1087-1089)gGg>gAg p.G363E DLGAP2_uc003wpm.3_Missense_Mutation_p.G363E NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA. 442 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) AAAGCCATGGGGGACGAGGAG 0.567000 31 3 0 0 1 0 0 KRT73 319101 broad.mit.edu 37 12 53008368 53008368 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:53008368C>T uc001sas.3 - 3 849 c.814G>A c.(814-816)Gag>Aag p.E272K NM_175068 NP_778238 Q86Y46 K2C73_HUMAN Homo sapiens keratin 73 (KRT73), mRNA. 272 Coil 1B.|Rod. keratin filament structural molecule activity p.E272K(2) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) CTTACCCCCTCGTACAGACAC 0.512000 65 6 0 0 1 0 0 MCHR2 84539 broad.mit.edu 37 6 100382357 100382357 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:100382357G>A uc003pqh.1 - 4 939 c.624C>T c.(622-624)ttC>ttT p.F208F MCHR2_uc003pqi.1_Silent_p.F208F NM_001040179 NP_115892 Q969V1 MCHR2_HUMAN Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA. 208 integral to membrane|plasma membrane G-protein coupled receptor activity p.F208fs*5(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) AGGGTAGAGGGAAAAAAAAAG 0.343000 77 10 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11576111 11576111 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:11576111G>A uc001ash.4 + 5 1780 c.1642G>A c.(1642-1644)Gaa>Aaa p.E548K PTCHD2_uc001asi.1_Missense_Mutation_p.E548K NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 548 SSD. cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CACCCACCTGGAAGACCCACA 0.592000 82 11 0 0 1 0 0 CUL4A 8451 broad.mit.edu 37 13 113909298 113909298 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:113909298C>T uc021rmv.1 + 17 1901 c.1890C>T c.(1888-1890)tcC>tcT p.S630S CUL4A_uc021rmu.1_Silent_p.S530S|CUL4A_uc010agu.3_Silent_p.S491S|CUL4A_uc010tjz.2_Silent_p.S309S NM_001008895 NP_003580 Q13619 CUL4A_HUMAN Homo sapiens cullin 4A (CUL4A), transcript variant 1, mRNA. 630 DNA repair|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) CGCTGCAGTCCCTGGCCTGTG 0.458000 36 3 0 0 1 0 0 RASEF 158158 broad.mit.edu 37 9 85613350 85613350 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:85613350G>A uc004amo.1 - 12 1996 c.1735C>T c.(1735-1737)Caa>Taa p.Q579* NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA. 579 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm GTP binding|calcium ion binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 GTTTTCATTTGGAAATCAACT 0.443000 154 9 0 0 1 0 0 PTGIR 5739 broad.mit.edu 37 19 47124666 47124666 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:47124666C>T uc002pex.3 - 2 1145 c.1032G>A c.(1030-1032)ggG>ggA p.G344G NM_000960 NP_000951 P43119 PI2R_HUMAN Homo sapiens prostaglandin I2 (prostacyclin) receptor (IP) (PTGIR), mRNA. 344 G-protein signaling, coupled to cyclic nucleotide second messenger|cell-cell signaling|platelet activation integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 13 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331) Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929) GCACGCAGCTCCCCTCCTTTC 0.692000 19 3 0 0 1 0 0 ELMOD2 255520 broad.mit.edu 37 4 141458692 141458692 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:141458692G>A uc003iik.3 + 4 528 c.396G>A c.(394-396)atG>atA p.M132I NM_153702 NP_714913 Q8IZ81 ELMD2_HUMAN Homo sapiens ELMO/CED-12 domain containing 2 (ELMOD2), mRNA. 132 ELMO. phagocytosis|regulation of defense response to virus|response to virus cytoskeleton GTPase activator activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 7 all_hematologic(180;0.162) AGCTACTCATGAAGGTAAATT 0.363000 64 5 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92532375 92532375 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:92532375G>A uc001pdj.4 + 8 6213 c.6196G>A c.(6196-6198)Gcc>Acc p.A2066T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 2066 Cadherin 18. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCTGCGTGTGGCCAGAGTGGT 0.512000 TCGA Ovarian(4;0.039) 42 7 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 120053707 120053707 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:120053707G>A uc004bjt.2 - 1 629 c.528C>T c.(526-528)tcC>tcT p.S176S NM_014010 NP_054729 O75129 ASTN2_HUMAN Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA. 176 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 AGCTGCTCATGGAGACGTGGA 0.592000 94 16 0 0 1 0 0 SMCR7L 54471 broad.mit.edu 37 22 39909778 39909778 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:39909778C>T uc003axw.3 + 5 1339 c.842C>T c.(841-843)tCc>tTc p.S281F SMCR7L_uc010gxz.1_Missense_Mutation_p.S103F|SMCR7L_uc003axx.3_Missense_Mutation_p.S281F|SMCR7L_uc003axy.3_Missense_Mutation_p.S103F NM_019008 NP_061881 Q9NQG6 SMC7L_HUMAN Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7-like (SMCR7L), nuclear gene encoding mitochondrial protein, mRNA. 281 integral to membrane|mitochondrion central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1) 16 Melanoma(58;0.04) GCCATAGGGTCCCTCTTGGAC 0.557000 OREG0026577 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 102 20 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11589736 11589736 + Missense_Mutation SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:11589736T>G uc001ash.4 + 13 3060 c.2922T>G c.(2920-2922)agT>agG p.S974R NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 974 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TCGTGCCTAGTGAGAAAGGTA 0.627000 47 7 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51749584 51749584 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:51749584A>G uc010hlv.3 + 3 2034 c.1795A>G c.(1795-1797)Aag>Gag p.K599E GRM2_uc003dbo.4_5'UTR|GRM2_uc010hlu.3_Non-coding_Transcript NM_000839 NP_000830 Q14416 GRM2_HUMAN Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA. 599 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) ACCAGTGGTCAAGGCCTCAGG 0.602000 131 14 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103440373 103440374 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:103440373_103440374CC>TT uc001ymi.1 - 11 1852_1853 c.1620_1621GG>AA c.(1618-1623)caggag>caAAag p.E541K NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA. 541 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TCCTCCTTCTCCTGCCGGACCA 0.599000 102 6 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769361 247769361 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:247769361C>T uc010pyz.2 + 0 474 c.474C>T c.(472-474)atC>atT p.I158I NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA. 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L157L(2) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.017) GTTCCCTAATCCATGCAACTT 0.488000 69 5 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34010029 34010029 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:34010029C>T uc011kap.2 + 5 865 c.491C>T c.(490-492)cCa>cTa p.P164L NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN Homo sapiens BMP binding endothelial regulator (BMPER), mRNA. 164 VWFC 3. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 CCCACATGTCCAGGTAACGTT 0.488000 83 7 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 78669819 78669819 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:78669819C>T uc001jxn.3 - 24 3229 c.3052G>A c.(3052-3054)Gat>Aat p.D1018N KCNMA1_uc021ptu.1_Missense_Mutation_p.D910N|KCNMA1_uc001jxj.2_Missense_Mutation_p.D964N|KCNMA1_uc001jxk.1_Missense_Mutation_p.D636N|KCNMA1_uc009xrt.1_Missense_Mutation_p.D809N|KCNMA1_uc001jxl.1_Missense_Mutation_p.D643N|KCNMA1_uc001jxo.3_Missense_Mutation_p.D1001N|KCNMA1_uc001jxm.3_Missense_Mutation_p.D960N|KCNMA1_uc001jxq.3_Missense_Mutation_p.D990N NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA. 1018 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TCATCATCATCGTCTTGGTCC 0.478000 44 5 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103308007 103308007 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:103308007G>A uc003ykr.2 - 28 4124 c.3669C>T c.(3667-3669)ctC>ctT p.L1223L UBR5_uc003yks.2_Silent_p.L1223L NM_015902 NP_056986 O95071 UBR5_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA. 1223 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) ATGTCCGTTTGAGTCTATAGA 0.338000 31 4 0 0 1 0 0 ATP5J2-PTCD1 100526740 broad.mit.edu 37 7 99030974 99030974 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:99030974C>T uc011kiw.2 - 3 728 c.668G>A c.(667-669)aGc>aAc p.S223N ATP5J2-PTCD1_uc003uqh.3_Missense_Mutation_p.S174N NM_001198879 NP_001185808 B4DJ38 B4DJ38_HUMAN Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA. 223 CGTGTAGTTGCTCTCCATGGG 0.622000 262 27 0 0 1 0 0 PDIA3 2923 broad.mit.edu 37 15 44055282 44055282 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:44055282C>T uc001zsu.3 + 4 628 c.480C>T c.(478-480)ttC>ttT p.F160F PDIA3_uc010bdp.3_Silent_p.F140F|PDIA3_uc010ued.2_5'UTR NM_005313 NP_005304 P30101 PDIA3_HUMAN Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA. 160 cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein import into nucleus|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1) 17 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) TAGGTTTTTTCGATGATTCAT 0.393000 87 5 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140228535 140228535 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140228535T>A uc003lhu.2 + 0 1179 c.455T>A c.(454-456)tTt>tAt p.F152Y PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.F152Y NM_031857 NP_114063 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA. 167 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACTCTCGGTTTCCACTAGAG 0.552000 67 7 0 0 1 0 0 C14orf166B 145497 broad.mit.edu 37 14 77294741 77294741 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:77294741G>A uc001xsx.2 + 1 310 c.196G>A c.(196-198)Gaa>Aaa p.E66K C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010aso.1_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript|C14orf166B_uc010tvh.1_5'Flank NM_194287 NP_919263 Q0VAA2 CN16B_HUMAN Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA. 66 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) GGAGAATTCGGAAACAGACCT 0.522000 113 14 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763659 77763659 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:77763659C>T uc003yau.2 + 9 4889 c.4502C>T c.(4501-4503)cCt>cTt p.P1501L ZFHX4_uc003yaw.1_Missense_Mutation_p.P1456L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 1456 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAAGCAAGTCCTGTAGGAAGT 0.478000 HNSCC(33;0.089) 37 3 0 0 1 0 0 KBTBD12 166348 broad.mit.edu 37 3 127646784 127646784 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:127646784G>A uc010hsr.3 + 1 1251 c.1248G>A c.(1246-1248)tgG>tgA p.W416* KBTBD12_uc003ejy.4_Nonsense_Mutation_p.W23*|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Nonsense_Mutation_p.W416* NM_207335 NP_997218 Q3ZCT8 KBTBC_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA. 416 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 GGGACAATTGGAAAAGGGTGT 0.383000 50 5 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55027037 55027037 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:55027037C>T uc002xxp.2 + 5 1030 c.805C>T c.(805-807)Ccc>Tcc p.P269S CASS4_uc002xxq.4_Missense_Mutation_p.P269S|CASS4_uc010zze.1_Missense_Mutation_p.P215S|CASS4_uc002xxr.2_Missense_Mutation_p.P269S|CASS4_uc010gio.2_Intron NM_001164116 NP_065089 Q9NQ75 CASS4_HUMAN Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA. 269 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 AGAATCAAGGCCCCACGCTCT 0.512000 78 4 0 0 1 0 0 NOMO2 283820 broad.mit.edu 37 16 18532154 18532154 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:18532154G>A uc002dfe.3 - 18 2278 c.2206C>T c.(2206-2208)Cct>Tct p.P736S NOMO2_uc002dff.3_Missense_Mutation_p.P736S|NOMO2_uc010bvx.3_Missense_Mutation_p.P569S|Mir_548_uc021teb.1_5'Flank NM_001004060 NP_001004060 Q5JPE7 NOMO2_HUMAN Homo sapiens NODAL modulator 2 (NOMO2), transcript variant 1, mRNA. 736 endoplasmic reticulum membrane|integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding p.K735N(1) endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1) 20 TGCACGGGAGGCTTGGTCATT 0.562000 244 22 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198229 170198229 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:170198229C>T uc003fgz.2 - 6 2158 c.1842G>A c.(1840-1842)gtG>gtA p.V614V CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA. 614 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) GCTGCAGGATCACAAACACCA 0.542000 88 6 0 0 1 0 0 NRIP2 83714 broad.mit.edu 37 12 2944067 2944067 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:2944067C>T uc001qlc.3 - 0 155 c.83G>A c.(82-84)gGa>gAa p.G28E NRIP2_uc010sed.1_Missense_Mutation_p.G28E|LOC100507424_uc021qtc.1_5'Flank NM_031474 NP_113662 Q9BQI9 NRIP2_HUMAN Homo sapiens nuclear receptor interacting protein 2 (NRIP2), mRNA. 28 proteolysis|transcription, DNA-dependent cytoplasm|nucleus aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(31;0.000818) TCTGCTTCTTCCTGCCTGTCT 0.607000 57 6 0 0 1 0 0 MRO 83876 broad.mit.edu 37 18 48333184 48333184 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:48333184G>A uc010dpa.3 - 2 327 c.178C>T c.(178-180)Ctg>Ttg p.L60L MRO_uc010xdn.2_Silent_p.L46L|MRO_uc002lew.4_Silent_p.L46L|MRO_uc010dpb.3_Silent_p.L60L|MRO_uc010dpc.3_Silent_p.L46L|MRO_uc002lex.4_Silent_p.L46L NM_001127176 NP_001120648 Q9BYG7 MSTRO_HUMAN Homo sapiens maestro (MRO), transcript variant 4, mRNA. 46 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) ACATTCTTCAGAGGCTCCCGC 0.478000 103 12 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150349697 150349697 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:150349697C>T uc010ntg.2 + 1 1780 c.1642C>T c.(1642-1644)Cct>Tct p.P548S NM_004224 NP_004215 Q13585 MTR1L_HUMAN Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA. 548 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CCCCGAGATCCCTGCCATTGC 0.647000 49 12 0 0 1 0 0 OXA1L 5018 broad.mit.edu 37 14 23235881 23235881 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:23235881G>A uc001wgn.2 + 0 151 c.151G>A c.(151-153)Ggc>Agc p.G51S OXA1L_uc010tnc.2_Missense_Mutation_p.G51S|OXA1L_uc001wgp.2_5'Flank NM_005015 NP_005006 Q15070 OXA1L_HUMAN Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA. 0 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) TTACTGCGCAGGCGCAAAAGC 0.577000 150 15 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113312205 113312205 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:113312205G>A uc010mtz.3 - 1 1048 c.711C>T c.(709-711)acC>acT p.T237T SVEP1_uc010mua.1_Silent_p.T237T|SVEP1_uc004beu.2_Silent_p.T237T|SVEP1_uc004bev.3_5'UTR NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 237 VWFA. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CCTCCTTTGGGGTGGAAGCCA 0.483000 21 3 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27222777 27222777 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:27222777C>T uc003nja.3 + 10 1358 c.1343C>T c.(1342-1344)cCc>cTc p.P448L PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Missense_Mutation_p.P191L|PRSS16_uc003njd.3_Non-coding_Transcript NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA. 448 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 GACACAGACCCCTGGCATGTG 0.552000 226 18 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99513754 99513754 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:99513754G>A uc003dti.1 + 2 1140 c.1012G>A c.(1012-1014)Gga>Aga p.G338R MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G337R|COL8A1_uc003dth.1_Missense_Mutation_p.G337R NM_020351 NP_065084 P27658 CO8A1_HUMAN Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA. 337 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 AGGGGAGCAAGGACTGCCAGG 0.637000 39 9 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71797758 71797758 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:71797758G>A uc010fen.3 + 28 3256 c.3115G>A c.(3115-3117)Gag>Aag p.E1039K DYSF_uc010fei.3_Missense_Mutation_p.E1038K|DYSF_uc010feh.3_Missense_Mutation_p.E1007K|DYSF_uc002sig.4_Missense_Mutation_p.E1007K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.E1052K|DYSF_uc010fee.3_Missense_Mutation_p.E1021K|DYSF_uc010fef.3_Missense_Mutation_p.E1038K|DYSF_uc002sie.3_Missense_Mutation_p.E1021K|DYSF_uc010feo.3_Missense_Mutation_p.E1053K|DYSF_uc010fej.3_Missense_Mutation_p.E1008K|DYSF_uc010fel.3_Missense_Mutation_p.E1008K|DYSF_uc010fem.3_Missense_Mutation_p.E1022K|DYSF_uc002sif.3_Missense_Mutation_p.E1022K|DYSF_uc010fek.3_Missense_Mutation_p.E1039K NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1021 Arg-rich. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CATCCCCCCGGAGCGGAAGCC 0.617000 27 4 0 0 1 0 0 ASCC2 84164 broad.mit.edu 37 22 30186482 30186482 + Missense_Mutation SNP C G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:30186482C>G uc003agr.3 - 18 2222 c.2078G>C c.(2077-2079)cGc>cCc p.R693P ASCC2_uc011akr.2_Missense_Mutation_p.R617P|ASCC2_uc003ags.3_Non-coding_Transcript NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA. 693 regulation of transcription, DNA-dependent|transcription, DNA-dependent p.R693C(1) endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) AAAGGCCATGCGCCTGGCTTC 0.602000 61 7 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31092307 31092307 + Silent SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:31092307A>C uc002eap.3 + 1 4951 c.4662A>C c.(4660-4662)acA>acC p.T1554T ZNF646_uc021tgu.1_Silent_p.T1554T NM_014699 NP_055514 O15015 ZN646_HUMAN Homo sapiens zinc finger protein 646 (ZNF646), mRNA. 1554 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CCAACAAGACAGACCGACACT 0.552000 96 9 0 0 1 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160274695 160274695 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:160274695C>T uc003iqg.4 + 21 3975 c.3665C>T c.(3664-3666)tCt>tTt p.S1222F NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA. 1222 MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction integral to plasma membrane|intracellular Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) ACAGTAATTTCTTCTCCAAGC 0.488000 92 6 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55340247 55340247 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:55340247C>T uc010rih.2 + 0 644 c.644C>T c.(643-645)tCc>tTc p.S215F NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA. 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) CTAATATTCTCCTATGTCATC 0.418000 32 3 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82578956 82578956 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:82578956C>T uc003uhx.2 - 5 11237 c.10948G>A c.(10948-10950)Gat>Aat p.D3650N PCLO_uc003uhv.2_Missense_Mutation_p.D3650N|PCLO_uc010lec.3_Missense_Mutation_p.D615N NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3581 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGACTTATATCATCAGGGAGG 0.468000 181 7 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140517365 140517365 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140517365G>A uc003liq.3 + 0 2566 c.2349G>A c.(2347-2349)ggG>ggA p.G783G NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. 783 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGAAATAGGGAAAACTGCTG 0.468000 144 5 0 0 1 0 0 RALYL 138046 broad.mit.edu 37 8 85774624 85774624 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:85774624G>A uc003yct.4 + 5 680 c.546G>A c.(544-546)ggG>ggA p.G182G RALYL_uc003ycq.4_Silent_p.G169G|RALYL_uc003ycr.4_Silent_p.G169G|RALYL_uc003ycs.4_Silent_p.G169G|RALYL_uc010lzy.3_Silent_p.G158G|RALYL_uc003ycu.4_Silent_p.G96G NM_001100391 NP_776247 Q86SE5 RALYL_HUMAN Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA. 169 RNA binding|identical protein binding|nucleotide binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 CTCGCAGGGGGAAAGGAGTCT 0.473000 35 3 0 0 1 0 0 TRIM37 4591 broad.mit.edu 37 17 57094720 57094720 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:57094720G>A uc002iwy.4 - 19 2767 c.2323C>T c.(2323-2325)Cga>Tga p.R775* TRIM37_uc002iwz.4_Nonsense_Mutation_p.R775*|TRIM37_uc002ixa.4_Nonsense_Mutation_p.R653*|TRIM37_uc010woc.2_Nonsense_Mutation_p.R741* NM_001005207 NP_056109 O94972 TRI37_HUMAN Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA. 775 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) ACTGCTCTTCGAAGTGATAGA 0.448000 Mulibrey Nanism 122 11 0 0 1 0 0 SPINLW1-WFDC6 100526773 broad.mit.edu 37 20 44171379 44171379 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:44171379G>A uc010zxc.2 - 2 420 c.351C>T c.(349-351)ttC>ttT p.F117F SPINLW1-WFDC6_uc002xou.3_Silent_p.F117F|SPINLW1-WFDC6_uc002xov.2_3'UTR NM_001198986 NP_001185915 A6PVD6 A6PVD6_HUMAN Homo sapiens SPINLW1-WFDC6 readthrough (SPINLW1-WFDC6), mRNA. 117 extracellular region serine-type endopeptidase inhibitor activity CTTTGGATTGGAAGTTGTTAT 0.498000 98 7 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102334967 102334967 + Missense_Mutation SNP C G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:102334967C>G uc004eju.3 - 11 1097 c.1026G>C c.(1024-1026)aaG>aaC p.K342N NXF3_uc010noi.1_Missense_Mutation_p.K192N NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA. 342 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 GGACCAGATTCTTCAACATCT 0.502000 124 38 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10248571 10248571 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:10248571G>A uc002mng.3 - 34 4362 c.4182C>T c.(4180-4182)tcC>tcT p.S1394S DNMT1_uc002mnf.3_Silent_p.S318S|DNMT1_uc010xlc.2_Silent_p.S1410S|DNMT1_uc002mnh.3_Silent_p.S1289S|DNMT1_uc010xld.2_Silent_p.S1394S NM_001379 NP_001370 P26358 DNMT1_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA. 1394 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TCTGGAACCAGGACTGAGGCT 0.632000 24 3 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28345429 28345429 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:28345429C>T uc001iua.1 - 17 1935 c.1531G>A c.(1531-1533)Ggt>Agt p.G511S MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.G511S|MPP7_uc009xla.2_Missense_Mutation_p.G511S|MPP7_uc010qdv.1_Non-coding_Transcript NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA. 511 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TTTGCAGCACCTTGGTCATCT 0.448000 135 17 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171076846 171076846 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:171076846G>A uc001ghi.3 + 3 463 c.352G>A c.(352-354)Gat>Aat p.D118N FMO3_uc001ghh.3_Missense_Mutation_p.D118N|FMO3_uc010pmb.2_Missense_Mutation_p.D98N|FMO3_uc010pmc.2_Missense_Mutation_p.D55N NM_001002294 NP_008825 P31513 FMO3_HUMAN Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA. 118 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TAAACATCCTGATTTTGCAAC 0.383000 35 3 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95500733 95500733 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:95500733C>T uc001tdp.4 - 12 3638 c.3414G>A c.(3412-3414)atG>atA p.M1138I FGD6_uc009zsx.3_Missense_Mutation_p.M271I|FGD6_uc001tdq.1_Missense_Mutation_p.M174I NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA. 1138 PH 1. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 CACACACCTTCATTCCAGCCA 0.408000 187 21 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80730323 80730323 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:80730323T>C uc001szd.3 + 38 4710 c.4704T>C c.(4702-4704)tgT>tgC p.C1568C NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TCGAAAAATGTTCCATGAATC 0.343000 43 3 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106518648 106518648 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:106518648C>T uc021ser.1 - 2195 c.39305G>A Parts of antibodies, mostly variable regions. CTCAGGGACCCCCCAGGCTGG 0.592000 161 34 0 0 1 0 0 RETNLB 84666 broad.mit.edu 37 3 108474710 108474710 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:108474710G>A uc003dxh.2 - 2 349 c.251C>T c.(250-252)tCg>tTg p.S84L NM_032579 NP_115968 Q9BQ08 RETNB_HUMAN Homo sapiens resistin like beta (RETNLB), mRNA. 84 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 AACATCCCACGAACCACAGCC 0.577000 135 11 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20829176 20829176 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:20829176G>A uc002npb.1 - 1 189 c.39C>T c.(37-39)ttC>ttT p.F13F ZNF626_uc002npc.1_Intron|ZNF626_uc002npd.1_Silent_p.F13F NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA. 13 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 CCTCCAGAGAGAATTCTATGG 0.423000 215 16 0 0 1 0 0 GNA15 2769 broad.mit.edu 37 19 3151736 3151736 + Missense_Mutation SNP G A A rs139079286 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:3151736G>A uc002lxf.2 + 3 775 c.517G>A c.(517-519)Gag>Aag p.E173K NM_002068 NP_002059 P30679 GNA15_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA. 173 G-protein signaling, coupled to cAMP nucleotide second messenger|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|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 p.E173K(4) 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) CATCACCGAGGAGGGCTACGT 0.627000 211 10 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745843 77745843 + Silent SNP G A A rs34870411 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:77745843G>A uc002snr.3 - 2 1567 c.1152C>T c.(1150-1152)atC>atT p.I384I LRRTM4_uc002snq.3_Silent_p.I384I|LRRTM4_uc002sns.2_Silent_p.I384I|LRRTM4_uc002snt.2_Silent_p.I385I NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA. 384 integral to membrane p.I384I(3) autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) TAGGTCTAGGGATAATCAGAG 0.488000 18 4 0 0 1 0 0 OR2D2 120776 broad.mit.edu 37 11 6913419 6913419 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:6913419G>A uc010rau.2 - 0 313 c.313C>T c.(313-315)Ctc>Ttc p.L105F NM_003700 NP_003691 Q9H210 OR2D2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA. 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CCAAAAATGAGGAAAAAGAGA 0.473000 58 4 0 0 1 0 0 TMED9 54732 broad.mit.edu 37 5 177020755 177020755 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:177020755C>T uc003mhx.3 + 2 393 c.390C>T c.(388-390)tcC>tcT p.S130S NM_017510 NP_059980 Q9BVK6 TMED9_HUMAN Homo sapiens transmembrane emp24 protein transport domain containing 9 (TMED9), mRNA. 130 GOLD. transport ER-Golgi intermediate compartment|endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2) 10 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) 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) CCAAGTTCTCCCTCTTTGCTG 0.567000 202 14 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138449716 138449716 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:138449716C>T uc003ihe.4 - 2 3043 c.2656G>A c.(2656-2658)Gat>Aat p.D886N PCDH18_uc003ihf.4_Missense_Mutation_p.D878N|PCDH18_uc011cgz.2_Missense_Mutation_p.D97N|PCDH18_uc003ihg.4_Missense_Mutation_p.D665N|PCDH18_uc011cha.2_Missense_Mutation_p.D66N NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 886 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CGCCCCAAATCATAATCACTG 0.448000 261 15 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116757789 116757789 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:116757789C>T uc011ebg.2 + 5 2314 c.2215C>T c.(2215-2217)Ctg>Ttg p.L739L DSE_uc003pws.3_Silent_p.L720L|DSE_uc003pwt.3_Silent_p.L720L|DSE_uc003pwu.3_Silent_p.L387L NM_013352 NP_037484 Q9UL01 DSE_HUMAN Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA. 720 dermatan sulfate biosynthetic process Golgi apparatus|endoplasmic reticulum|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) TCACAAAATTCTGTTTGACCG 0.488000 133 12 0 0 1 0 0 PEX11G 92960 broad.mit.edu 37 19 7546945 7546945 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:7546945G>A uc002mgk.1 - 2 411 c.402C>T c.(400-402)gcC>gcT p.A134A PEX11G_uc002mgl.1_Silent_p.A64A NM_080662 NP_542393 Q96HA9 PX11C_HUMAN Homo sapiens peroxisomal biogenesis factor 11 gamma (PEX11G), mRNA. 134 integral to membrane|peroxisomal membrane central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 7 GCAGAGAGAGGGCCCACAGGG 0.657000 19 3 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24255195 24255195 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:24255195G>A uc003xdz.2 + 7 848 c.628_splice c.e7-1 p.K210_splice ADAMDEC1_uc010lub.2_Splice_Site_p.K131_splice|ADAMDEC1_uc011lab.1_Splice_Site_p.K131_splice NM_014479 NP_001138744 O15204 ADEC1_HUMAN Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA. 210 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) TCTTTGTAAAGAAAGAAGACT 0.348000 53 4 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7707604 7707604 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:7707604G>A uc002giu.1 + 57 9017 c.9003G>A c.(9001-9003)ctG>ctA p.L3001L DNAH2_uc010cnm.1_5'UTR NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 3001 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGGAGCTGCTGGCCCAAGCCA 0.557000 55 4 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123813930 123813930 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:123813930C>T uc010sab.2 - 0 616 c.616G>A c.(616-618)Gtg>Atg p.V206M NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA. 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CCCAGTAACACCAACGTAGAG 0.532000 45 5 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40366817 40366817 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:40366817C>T uc002rrx.3 - 9 2294 c.2270_splice c.e9-1 p.G757_splice LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Splice_Site_p.G752_splice|SLC8A1_uc002rsb.2_Splice_Site_p.G749_splice|SLC8A1_uc002rrz.3_Splice_Site_p.G744_splice|SLC8A1_uc002rsa.3_Splice_Site_p.G721_splice|SLC8A1_uc002rsd.4_Splice_Site_p.G721_splice NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 757 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCATCTTCCCCTAGAGAGAAT 0.498000 92 10 0 0 1 0 0 CD84 8832 broad.mit.edu 37 1 160523210 160523210 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:160523210G>A uc001fwh.4 - 3 797 c.718C>T c.(718-720)Ctg>Ttg p.L240L CD84_uc001fwf.4_Silent_p.L240L|CD84_uc009wtn.3_Silent_p.L240L|CD84_uc001fwi.4_Silent_p.L126L|CD84_uc001fwg.4_Silent_p.L240L|CD84_uc001fwj.3_Silent_p.L240L NM_001184879 NP_001171808 Q9UIB8 SLAF5_HUMAN Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA. 240 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ACTGAAGACAGAATGAGAACA 0.468000 47 3 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7680636 7680636 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:7680636G>A uc002cys.2 + 10 1696 c.708G>A c.(706-708)gaG>gaA p.E236E RBFOX1_uc010buf.1_Silent_p.E236E|RBFOX1_uc002cyr.1_Silent_p.E235E|RBFOX1_uc002cyt.2_Intron|RBFOX1_uc010uxz.1_Silent_p.E279E|RBFOX1_uc010uya.1_Silent_p.E193E|RBFOX1_uc002cyv.1_Silent_p.E236E|RBFOX1_uc010uyb.1_Silent_p.E236E|RBFOX1_uc002cyw.2_Silent_p.E256E|RBFOX1_uc002cyy.2_Silent_p.E256E|RBFOX1_uc002cyx.2_Silent_p.E256E|RBFOX1_uc010uyc.1_Intron NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA. 236 RNA splicing|RNA transport|mRNA processing nucleus|trans-Golgi network RNA binding|nucleotide binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 CCAACCAGGAGGGATCTTCCA 0.488000 69 4 0 0 1 0 0 ABR 29 broad.mit.edu 37 17 915214 915214 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:915214G>A uc002fsd.3 - 18 2083 c.1973C>T c.(1972-1974)tCc>tTc p.S658F ABR_uc002fse.3_Missense_Mutation_p.S612F|ABR_uc010vqf.2_Missense_Mutation_p.S109F|ABR_uc010vqg.2_Missense_Mutation_p.S440F|ABR_uc002fsg.3_Missense_Mutation_p.S621F|ABR_uc002fsh.1_Intron|ABR_uc002fsf.3_Missense_Mutation_p.S195F NM_021962 NP_001153218 Q12979 ABR_HUMAN Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA. 658 Rho-GAP. RSKV -> VQGA (in Ref. 2; AAC37519). apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) GGGCACCTTGGAGCGCTCCCG 0.647000 142 12 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110416853 110416853 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:110416853C>T uc003yne.3 + 14 1548 c.1444C>T c.(1444-1446)Cga>Tga p.R482* NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 482 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTACCAGTATCGAAATGTTTA 0.363000 HNSCC(38;0.096) 35 3 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140202854 140202854 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140202854G>A uc003lhl.2 + 0 1494 c.1494G>A c.(1492-1494)gtG>gtA p.V498V PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.V498V|PCDHAC2_uc003lhj.1_Silent_p.V498V NM_018908 NP_061731 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA. 513 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCGGCGGGTGGGCGAGCGCC 0.672000 105 8 0 0 1 0 0 ZNF217 7764 broad.mit.edu 37 20 52193349 52193349 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:52193349C>T uc002xwq.4 - 2 2296 c.1954G>A c.(1954-1956)Gat>Aat p.D652N ZNF217_uc010gij.1_Missense_Mutation_p.D644N NM_006526 NP_006517 O75362 ZN217_HUMAN Homo sapiens zinc finger protein 217 (ZNF217), mRNA. 652 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.P651S(2)|p.P651P(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) GTACTGCCATCCGGAGGAGGA 0.488000 182 19 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99723871 99723871 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:99723871C>T uc001yga.3 - 1 631 c.364G>A c.(364-366)Gac>Aac p.D122N BCL11B_uc001ygb.3_Missense_Mutation_p.D122N NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA. 122 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) TCATCTTCGTCGGGGGTGACT 0.602000 T TLX3 T-ALL 130 13 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612411 20612411 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:20612411C>T uc010tla.2 + 0 517 c.517C>T c.(517-519)Cag>Tag p.Q173* NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TGGCCCAAACCAGCTCGATAA 0.502000 71 9 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150828252 150828252 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:150828252C>T uc004fev.4 + 9 1117 c.785C>T c.(784-786)tCt>tTt p.S262F NM_173493 NP_775764 Q8IV76 PASD1_HUMAN Homo sapiens PAS domain containing 1 (PASD1), mRNA. 262 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) TTTGTAGATTCTGATTCAACT 0.373000 45 7 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50279599 50279599 + Missense_Mutation SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:50279599A>C uc001zxu.3 - 9 879 c.737T>G c.(736-738)gTt>gGt p.V246G ATP8B4_uc010ber.3_Missense_Mutation_p.V119G|ATP8B4_uc010ufd.2_Missense_Mutation_p.V119G|ATP8B4_uc010ufe.2_Non-coding_Transcript NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 246 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.M245I(1) breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TGCAAAAATAACCATTCCAAA 0.468000 82 7 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126173165 126173165 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:126173165G>A uc003vlr.2 - 7 2582 c.2271C>T c.(2269-2271)atC>atT p.I757I GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.I757I|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 757 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane p.I757V(2) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CCATCAAGAGGATACTGTATC 0.443000 HNSCC(24;0.065) 45 3 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16810706 16810706 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:16810706C>T uc010rcu.1 - 22 3312 c.3297G>A c.(3295-3297)ggG>ggA p.G1099G PLEKHA7_uc001mmo.3_Silent_p.G1098G|PLEKHA7_uc001mmm.3_Silent_p.G201G|PLEKHA7_uc010rcv.2_Silent_p.G673G|PLEKHA7_uc001mmn.3_Silent_p.G807G NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA. 1098 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 CCGTCCTCTCCCCTTGGCCCA 0.647000 58 8 0 0 1 0 0 SPAG1 6674 broad.mit.edu 37 8 101190158 101190158 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:101190158C>T uc003yjh.2 + 3 501 c.415C>T c.(415-417)Cat>Tat p.H139Y SPAG1_uc003yjg.1_Missense_Mutation_p.H139Y|SPAG1_uc003yji.2_Missense_Mutation_p.H139Y NM_172218 NP_757367 Q07617 SPAG1_HUMAN Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA. 139 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) CAGCTGTCTTCATGTAGGCAA 0.398000 81 9 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19752532 19752532 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:19752532C>T uc009zzj.3 - 2 334 c.229G>A c.(229-231)Gaa>Aaa p.E77K NM_006001 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA. 77 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.D76N(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GTGCGCACTTCATCTACAAAA 0.473000 76 4 0 0 1 0 0 KRT76 51350 broad.mit.edu 37 12 53165697 53165697 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:53165697C>T uc001sax.3 - 5 1275 c.1221G>A c.(1219-1221)atG>atA p.M407I NM_015848 NP_056932 Q01546 K22O_HUMAN Homo sapiens keratin 76 (KRT76), mRNA. 407 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCCTCTGGATCATCCTGTTGA 0.557000 158 10 0 0 1 0 0 C1orf101 257044 broad.mit.edu 37 1 244716054 244716054 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:244716054C>T uc001iam.3 + 8 1026 c.967C>T c.(967-969)Cct>Tct p.P323S C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.3_Missense_Mutation_p.P323S|C1orf101_uc010pym.2_Missense_Mutation_p.P172S|C1orf101_uc010pyn.2_Missense_Mutation_p.P256S NM_001130957 NP_001124429 Q5SY80 CA101_HUMAN Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA. 323 integral to membrane p.L322V(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 36 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) TGTAAATCTTCCTGATGGTGG 0.294000 110 11 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43708106 43708106 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:43708106G>A uc002ovy.3 - 1 464 c.362C>T c.(361-363)aCc>aTc p.T121I PSG4_uc002ovz.3_Missense_Mutation_p.T121I|PSG4_uc002owb.3_Missense_Mutation_p.T121I NM_002780 NP_002771 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA. 121 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GATGTGTAAGGTGTAGGATCC 0.478000 257 32 0 0 1 0 0 BPIFB1 92747 broad.mit.edu 37 20 31873889 31873889 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:31873889C>T uc002wyw.1 + 1 171 c.10C>T c.(10-12)Ccg>Tcg p.P4S BPIFB1_uc010gej.1_Missense_Mutation_p.P4S NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA. 4 extracellular space lipid binding p.P4T(1) GATGGCCGGCCCGTGGACCTT 0.617000 164 13 0 0 1 0 0 UBR1 197131 broad.mit.edu 37 15 43269030 43269030 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:43269030C>T uc001zqq.3 - 38 4320 c.4254G>A c.(4252-4254)tgG>tgA p.W1418* NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA. 1418 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) CAGGGTCATCCCAATACAAGG 0.388000 26 7 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101631927 101631927 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:101631927G>A uc003knm.3 - 0 327 c.40C>T c.(40-42)Ccc>Tcc p.P14S NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA. 14 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) GGGCTGGAGGGGACAAAAGCC 0.577000 35 5 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37026697 37026697 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:37026697C>T uc004ddl.2 + 0 266 c.214C>T c.(214-216)Cgc>Tgc p.R72C NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 72 p.R72C(3) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GCTTGTTTGTCGCCGTGACGA 0.532000 46 9 0 0 1 0 0 HSPA12A 259217 broad.mit.edu 37 10 118460575 118460575 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:118460575G>A uc001lct.3 - 3 425 c.320C>T c.(319-321)cCc>cTc p.P107L HSPA12A_uc001lcu.3_Missense_Mutation_p.P24L NM_025015 NP_079291 O43301 HS12A_HUMAN Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA. 107 ATP binding breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) CTTCCTCTCGGGAGTCAGCAA 0.562000 109 10 0 0 1 0 0 CRAT 1384 broad.mit.edu 37 9 131858390 131858390 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:131858390G>A uc004bxh.3 - 12 1834 c.1552C>T c.(1552-1554)Cga>Tga p.R518* CRAT_uc004bxk.4_Nonsense_Mutation_p.R497* NM_000755 NP_000746 P43155 CACP_HUMAN Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 518 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) AGCAGGTGTCGATCAAAGGCC 0.642000 163 22 0 0 1 0 0 ARHGEF26 26084 broad.mit.edu 37 3 153943785 153943785 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:153943785C>T uc021xgc.1 + 10 2360 c.2076C>T c.(2074-2076)atC>atT p.I692I ARHGEF26_uc011bog.1_Silent_p.I692I|ARHGEF26_uc011boh.1_Silent_p.I692I|ARHGEF26_uc011boi.1_5'UTR NM_001251962 NP_001238891 Q96DR7 ARHGQ_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA. 692 PH. regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 TGCTCATTATCACCAAGAAGA 0.393000 30 3 0 0 1 0 0 APP 351 broad.mit.edu 37 21 27423397 27423397 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:27423397T>C uc002ylz.3 - 4 781 c.581A>G c.(580-582)gAc>gGc p.D194G APP_uc010glk.3_Missense_Mutation_p.D189G|APP_uc002yma.3_Missense_Mutation_p.D194G|APP_uc011ach.2_Missense_Mutation_p.D138G|APP_uc021whz.1_Missense_Mutation_p.D194G|APP_uc021wia.1_Missense_Mutation_p.D194G|APP_uc002ymb.3_Missense_Mutation_p.D194G|APP_uc010glj.3_Missense_Mutation_p.D138G|APP_uc021wib.1_Missense_Mutation_p.D194G|APP_uc011aci.2_Missense_Mutation_p.D159G|APP_uc011acj.2_Missense_Mutation_p.D194G NM_000484 NP_000475 P05067 A4_HUMAN Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA. 194 G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) ATCCACATTGTCACTTTCTTC 0.527000 100 8 0 0 1 0 0 ZNF77 58492 broad.mit.edu 37 19 2936550 2936550 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:2936550G>A uc002lws.4 - 2 414 c.283C>T c.(283-285)Cag>Tag p.Q95* NM_021217 NP_067040 Q15935 ZNF77_HUMAN Homo sapiens zinc finger protein 77 (ZNF77), mRNA. 95 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1) 17 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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) ATTTGGTGCTGATCTCCAGTG 0.443000 55 9 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15366243 15366243 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:15366243G>A uc002nar.3 - 9 2134 c.1912C>T c.(1912-1914)Cag>Tag p.Q638* BRD4_uc002nas.3_Nonsense_Mutation_p.Q638*|BRD4_uc002nat.3_Nonsense_Mutation_p.Q638* NM_058243 NP_490597 O60885 BRD4_HUMAN Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA. 638 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) TCCCGTGACTGGATGATGTGC 0.577000 T C15orf55 lethal midline carcinoma of young people 89 5 0 0 1 0 0 TRIM50 135892 broad.mit.edu 37 7 72738661 72738661 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:72738661G>A uc003txy.1 - 1 326 c.125C>T c.(124-126)tCc>tTc p.S42F FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Missense_Mutation_p.S42F|TRIM50_uc003txz.1_Missense_Mutation_p.S42F NM_178125 NP_835226 Q86XT4 TRI50_HUMAN Homo sapiens tripartite motif containing 50 (TRIM50), mRNA. 42 cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 GCAGGACAGGGAAACCAGGCA 0.657000 OREG0018105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 72 4 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56867157 56867157 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:56867157C>T uc002eka.3 + 12 1497 c.1376C>T c.(1375-1377)cCc>cTc p.P459L NUP93_uc002ekb.3_Missense_Mutation_p.P336L|NUP93_uc010vhi.2_Missense_Mutation_p.P336L NM_014669 NP_001229725 Q8N1F7 NUP93_HUMAN Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA. 459 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 AACCAGCAACCCTTCCTCTAC 0.552000 172 19 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23079959 23079959 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:23079959C>T uc002dll.3 - 15 3467 c.3467G>A c.(3466-3468)aGa>aAa p.R1156K USP31_uc002dlk.3_Missense_Mutation_p.R428K|USP31_uc010vca.2_Missense_Mutation_p.R459K|USP31_uc010bxm.3_Missense_Mutation_p.R444K NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA. 1156 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) GGAGCCCTCTCTACTCAAGCT 0.612000 56 4 0 0 1 0 0 OR8J1 219477 broad.mit.edu 37 11 56128031 56128031 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:56128031G>A uc010rjh.2 + 0 341 c.309G>A c.(307-309)ggG>ggA p.G103G NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA. 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) AACTGGGAGGGTTCTTGTTCT 0.423000 65 8 0 0 1 0 0 PRAMEF6 440561 broad.mit.edu 37 1 13001260 13001260 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:13001260C>T uc001auq.2 - 2 509 c.423G>A c.(421-423)atG>atA p.M141I PRAMEF6_uc001aur.2_Intron NM_001010889 NP_001010889 Q5VXH4 PRAM6_HUMAN Homo sapiens PRAME family member 6 (PRAMEF6), mRNA. 141 NS(1)|kidney(1)|lung(5)|urinary_tract(2) 9 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCTGTCCTCTCATCCTTGGAC 0.512000 622 27 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10470392 10470392 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:10470392C>T uc003wtc.3 - 3 1445 c.1216G>A c.(1216-1218)Gaa>Aaa p.E406K NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 406 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GTCCAGATTTCATACTTGGGC 0.672000 92 5 0 0 1 0 0 C14orf39 317761 broad.mit.edu 37 14 60923639 60923639 + Missense_Mutation SNP C T T rs147627198 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:60923639C>T uc001xez.4 - 14 1464 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K C14orf39_uc010apo.3_Missense_Mutation_p.E163K NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA. 452 p.E452K(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) TCCTACATTTCGAACGGGGGG 0.318000 103 9 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19665885 19665885 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:19665885G>A uc002wrl.3 + 11 1401 c.1204G>A c.(1204-1206)Gat>Aat p.D402N NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA. 402 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 ACGGAGGGACGATGTTGTGGC 0.532000 48 5 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115085432 115085432 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:115085432T>C uc001ppi.4 - 6 1019 c.890A>G c.(889-891)aAc>aGc p.N297S CADM1_uc001ppf.4_Missense_Mutation_p.N297S|CADM1_uc001ppk.4_Missense_Mutation_p.N297S|CADM1_uc001ppj.4_Missense_Mutation_p.N297S|CADM1_uc001ppl.3_Missense_Mutation_p.N297S|CADM1_uc001pph.4_Missense_Mutation_p.N49S NM_014333 NP_055148 Q9BY67 CADM1_HUMAN Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA. 297 Ig-like C2-type 2. adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) GATGAACAGGTTGGGCCCAGA 0.473000 99 8 0 0 1 0 0 ENTPD1 953 broad.mit.edu 37 10 97599471 97599471 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:97599471T>C uc010qoj.2 + 2 267 c.204T>C c.(202-204)ggT>ggC p.G68G ENTPD1_uc001kle.1_Silent_p.G63G|ENTPD1_uc001kli.4_Silent_p.G63G|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_5'UTR|ENTPD1_uc010qol.2_5'UTR|ENTPD1_uc001klh.4_Silent_p.G56G|ENTPD1_uc010qom.2_Silent_p.G56G|ENTPD1_uc010qon.2_5'UTR|ENTPD1_uc009xva.3_Intron NM_001164178 NP_001157655 P49961 ENTP1_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA. 56 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) TGGATGCGGGTTCTTCTCACA 0.423000 140 7 0 0 1 0 0 USP30 84749 broad.mit.edu 37 12 109509434 109509434 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:109509434C>T uc010sxi.2 + 4 602 c.498C>T c.(496-498)ttC>ttT p.F166F USP30_uc001tnu.4_Silent_p.F135F NM_032663 NP_116052 Q70CQ3 UBP30_HUMAN Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA. 166 ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2) 28 ACGAATTATTCCATGTCATTA 0.478000 105 10 0 0 1 0 0 ASCC2 84164 broad.mit.edu 37 22 30186469 30186469 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:30186469G>A uc003agr.3 - 18 2235 c.2091C>T c.(2089-2091)ctC>ctT p.L697L ASCC2_uc011akr.2_Silent_p.L621L|ASCC2_uc003ags.3_Non-coding_Transcript NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA. 697 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) CTTTCTTGGCGAGAAAGGCCA 0.597000 60 6 0 0 1 0 0 AP1M2 10053 broad.mit.edu 37 19 10687890 10687890 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:10687890C>T uc002mpd.3 - 8 1121 c.1037G>A c.(1036-1038)aGt>aAt p.S346N AP1M2_uc002mpc.3_Missense_Mutation_p.S344N NM_005498 NP_005489 Q9Y6Q5 AP1M2_HUMAN Homo sapiens adaptor-related protein complex 1, mu 2 subunit (AP1M2), mRNA. 344 MHD. cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane protein binding endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 9 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) AGACTTAATACTCCAAATCAC 0.582000 39 3 0 0 1 0 0 SGSM2 9905 broad.mit.edu 37 17 2279163 2279163 + Silent SNP C G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:2279163C>G uc002fum.4 + 17 2655 c.2478C>G c.(2476-2478)gcC>gcG p.A826A SGSM2_uc002fun.4_Silent_p.A781A|SGSM2_uc010vqw.2_Silent_p.A781A|SGSM2_uc002fuq.3_5'Flank NM_014853 NP_055668 O43147 SGSM2_HUMAN Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA. 781 Rab-GAP TBC. intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) GTGCGGCTGCCTACACTGTGC 0.672000 72 10 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29234332 29234332 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:29234332G>A uc010ezl.3 + 6 1193 c.842G>A c.(841-843)gGg>gAg p.G281E FAM179A_uc010ymm.2_Missense_Mutation_p.G281E|FAM179A_uc002rmr.4_5'Flank NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA. 281 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TTGGCTCGGGGGAGTGGGCCT 0.582000 46 4 0 0 1 0 0 TRAV20 28663 broad.mit.edu 37 14 22509263 22509263 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:22509263C>T uc021rpo.1 + 1 267 c.201C>T c.(199-201)ttC>ttT p.F67F TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc010tmm.2_Intron|TRAV20_uc021rpp.1_Non-coding_Transcript Homo sapiens mRNA for T cell receptor alpha variable 20, partial cds, clone: un 136. GCCCTGAATTCCTCTTCACCC 0.473000 8 3 0 0 1 0 0 NMT1 4836 broad.mit.edu 37 17 43181233 43181233 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:43181233C>T uc002ihz.3 + 9 1339 c.1321C>T c.(1321-1323)Ctc>Ttc p.L441F NMT1_uc010dad.1_Missense_Mutation_p.L101F NM_021079 NP_066565 P30419 NMT1_HUMAN Homo sapiens N-myristoyltransferase 1 (NMT1), mRNA. 441 N-terminal protein myristoylation|activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) CGCCCTTGTCCTCGCCAAAAT 0.572000 199 17 0 0 1 0 0 CERS4 79603 broad.mit.edu 37 19 8321833 8321833 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:8321833G>A uc002mjg.3 + 9 933 c.613_splice c.e9-1 p.D205_splice CERS4_uc002mji.3_Splice_Site_p.D41_splice|CERS4_uc010dvz.3_Splice_Site_p.D205_splice NM_024552 NP_078828 Q9HA82 CERS4_HUMAN Homo sapiens ceramide synthase 4 (CERS4), mRNA. 205 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity TCTACTGCAGGATTTCAAGGA 0.577000 431 47 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 137041714 137041714 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:137041714C>T uc003qhc.3 - 1 823 c.462G>A c.(460-462)gtG>gtA p.V154V MAP3K5_uc011edk.1_5'UTR|MAP3K5_uc010kgw.1_Silent_p.V154V NM_005923 NP_005914 Q99683 M3K5_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA. 154 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) CGCTCATCTCCACCACCGCAA 0.443000 36 8 0 0 1 0 0 FZD7 8324 broad.mit.edu 37 2 202900182 202900183 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:202900182_202900183CC>TT uc002uyw.1 + 0 873_874 c.812_813CC>TT c.(811-813)acc>aTT p.T271I NM_003507 NP_003498 O75084 FZD7_HUMAN Homo sapiens frizzled family receptor 7 (FZD7), mRNA. 271 G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 ACGCTCTTTACCGTTCTCACCT 0.639000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 282 15 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37492087 37492087 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:37492087G>A uc003aqt.1 - 4 510 c.448C>T c.(448-450)Ccc>Tcc p.P150S TMPRSS6_uc003aqs.1_Missense_Mutation_p.P159S|TMPRSS6_uc003aqu.3_Missense_Mutation_p.P150S NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA. 159 angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity p.T149N(1) breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CGGTGCTCGGGGATTTGGAGA 0.627000 81 11 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78784672 78784672 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:78784672C>T uc004akc.2 + 12 2210 c.1672C>T c.(1672-1674)Cat>Tat p.H558Y PCSK5_uc004ajy.2_Missense_Mutation_p.H558Y|PCSK5_uc004ajz.3_Missense_Mutation_p.H558Y|PCSK5_uc004aka.3_Non-coding_Transcript NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 558 Homo B/P. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CATGACCATTCATTGCTGGGG 0.423000 93 11 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212488710 212488710 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:212488710C>T uc002veg.1 - 17 2237 c.2139G>A c.(2137-2139)ttG>ttA p.L713L ERBB4_uc002veh.1_Silent_p.L713L|ERBB4_uc010zji.1_Silent_p.L703L|ERBB4_uc010zjj.1_Silent_p.L703L|ERBB4_uc010fut.1_Silent_p.L713L NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 713 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CAGTTTCTTTCAAAATACGAA 0.403000 TSP Lung(8;0.080) 58 8 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104922370 104922370 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:104922370G>A uc003yls.3 + 2 1208 c.967G>A c.(967-969)Gat>Aat p.D323N RIMS2_uc003ylp.3_Missense_Mutation_p.D545N|RIMS2_uc003ylw.2_Missense_Mutation_p.D353N|RIMS2_uc003ylq.3_Missense_Mutation_p.D353N|RIMS2_uc003ylr.3_Intron|RIMS2_uc003ylt.3_5'Flank NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 612 intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGGAGACATGGATTACAACTG 0.408000 HNSCC(12;0.0054) 145 17 0 0 1 0 0 APOBEC3H 164668 broad.mit.edu 37 22 39497290 39497290 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:39497290G>A uc021wpt.1 + 2 326 c.199G>A c.(199-201)Gga>Aga p.G67R APOBEC3H_uc021wps.1_Missense_Mutation_p.G67R|APOBEC3H_uc021wpu.1_Missense_Mutation_p.G67R|APOBEC3H_uc021wpv.1_Missense_Mutation_p.G67R NM_001166003 NP_001159475 Q6NTF7 ABC3H_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H (APOBEC3H), transcript variant 1, mRNA. 67 DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition cytoplasm|nucleus cytidine deaminase activity|zinc ion binding central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Melanoma(58;0.04) CAAGTCCATGGGACTGGACGA 0.537000 124 7 0 0 1 0 0 MPP6 51678 broad.mit.edu 37 7 24690166 24690166 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:24690166G>A uc003swx.3 + 5 785 c.486G>A c.(484-486)atG>atA p.M162I MPP6_uc003swy.3_Missense_Mutation_p.M162I NM_016447 NP_057531 Q9NZW5 MPP6_HUMAN Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA. 162 PDZ. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 ATGGGGGAATGATAGATCGAC 0.343000 70 8 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3248730 3248730 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:3248730G>A uc004crg.4 - 2 430 c.273C>T c.(271-273)atC>atT p.I91I NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 91 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGATGCTTGGGATCTCATTGC 0.438000 34 6 0 0 1 0 0 LCN9 392399 broad.mit.edu 37 9 138557706 138557706 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:138557706G>A uc004cgk.1 + 6 476 c.476_splice c.e6-1 p.D159_splice NM_001001676 NP_001001676 Q8WX39 LCN9_HUMAN Homo sapiens lipocalin 9 (LCN9), mRNA. 159 extracellular region pheromone binding|transporter activity kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 6 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05) TGTCCTTCCAGATCCCTGCTA 0.697000 26 4 0 0 1 0 0 KYNU 8942 broad.mit.edu 37 2 143718222 143718222 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:143718222C>T uc010fnm.3 + 8 828 c.612C>T c.(610-612)atC>atT p.I204I KYNU_uc002tvk.3_Silent_p.I204I|KYNU_uc002tvl.3_Silent_p.I204I NM_001199241 NP_001186170 Q16719 KYNU_HUMAN Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA. 204 NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TAGAGGATATCCTTGAAGTAA 0.368000 42 8 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298434 107298434 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:107298434C>T uc004bcb.1 - 0 661 c.661G>A c.(661-663)Gat>Aat p.D221N NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA. 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 AGGGATATATCAGCACAGGCC 0.393000 111 6 0 0 1 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175803 143175803 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:143175803C>T uc003wdc.1 + 0 838 c.838C>T c.(838-840)Ccc>Tcc p.P280S LOC285965_uc003wda.3_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA. 280 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) ATCTGTCCATCCCTTCATCCT 0.498000 54 5 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65359559 65359559 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:65359559G>A uc001oeo.4 + 17 4735 c.4470G>A c.(4468-4470)cgG>cgA p.R1490R NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA. 1490 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 ACAAGGAGCGGATGTGAGTGG 0.677000 57 8 0 0 1 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726643 25726643 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:25726643C>T uc003nfc.3 - 0 148 c.113G>A c.(112-114)gGa>gAa p.G38E HIST1H2BA_uc003nfd.3_5'Flank NM_170745 NP_734466 Q96QV6 H2A1A_HUMAN Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA. 38 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 TGCATAGTTTCCCTTACGAAG 0.552000 45 6 0 0 1 0 0 SLC16A9 220963 broad.mit.edu 37 10 61414213 61414213 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:61414213G>A uc010qig.1 - 4 1020 c.571C>T c.(571-573)Ctc>Ttc p.L191F NM_194298 NP_919274 Q7RTY1 MOT9_HUMAN Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA. 191 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 GAAGATTGGAGGGGTCTCATC 0.403000 84 12 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16032949 16032949 + Missense_Mutation SNP G T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:16032949G>T uc002nbu.2 - 8 1049 c.1013C>A c.(1012-1014)tCc>tAc p.S338Y CYP4F11_uc010eab.1_Missense_Mutation_p.S338Y|CYP4F11_uc002nbt.2_Missense_Mutation_p.S338Y NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 338 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 TAGGACCCAGGAGAGACCACT 0.542000 70 4 0.150653 0.15096 1 1 0 ARHGAP25 9938 broad.mit.edu 37 2 69002468 69002468 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:69002468C>T uc010fdg.3 + 1 596 c.177C>T c.(175-177)atC>atT p.I59I ARHGAP25_uc010yqk.2_Silent_p.I33I|ARHGAP25_uc010yql.2_Silent_p.I59I|ARHGAP25_uc002sev.3_Silent_p.I52I|ARHGAP25_uc002sew.3_Silent_p.I52I|ARHGAP25_uc002sex.3_Silent_p.I52I|ARHGAP25_uc010fdh.1_Non-coding_Transcript NM_001007231 NP_001007232 P42331 RHG25_HUMAN Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA. 59 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.Q58*(1) breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 AGAGGTCCATCGTGAAGAACT 0.582000 192 24 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43976448 43976448 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:43976448C>T uc003bdy.2 - 24 3438 c.3124G>A c.(3124-3126)Gaa>Aaa p.E1042K EFCAB6_uc003bdz.2_Missense_Mutation_p.E890K|EFCAB6_uc010gzi.2_Missense_Mutation_p.E890K|EFCAB6_uc010gzj.1_Missense_Mutation_p.E268K NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 1042 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TCTTCTTTTTCCTTGGGCTGA 0.502000 338 15 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891842 18891842 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:18891842G>A uc001rdy.3 + 0 798 c.640G>A c.(640-642)Gaa>Aaa p.E214K PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA. 214 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) AGAAAGCTTGGAAATAGTTAA 0.398000 34 7 0 0 1 0 0 TSHB 7252 broad.mit.edu 37 1 115576090 115576090 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:115576090G>A uc001efs.1 + 1 175 c.107G>A c.(106-108)tGt>tAt p.C36Y NM_000549 NP_000540 P01222 TSHB_HUMAN Homo sapiens thyroid stimulating hormone, beta (TSHB), mRNA. 36 G-protein coupled receptor protein signaling pathway|anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) AGGAGAGAGTGTGCTTATTGC 0.418000 179 24 0 0 1 0 0 AKR1C4 1109 broad.mit.edu 37 10 5246352 5246352 + Missense_Mutation SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:5246352T>G uc001ihw.2 + 2 298 c.265T>G c.(265-267)Ttc>Gtc p.F89V NM_001818 NP_001809 P17516 AK1C4_HUMAN Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA. 89 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 18 NADH(DB00157) TTGGTGCACTTTCTTTCAACC 0.363000 91 11 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20903668 20903669 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:20903668_20903669GG>AA uc010sii.2 + 14 2213_2214 c.1858_1859GG>AA c.(1858-1860)gga>AAa p.G620K SLCO1C1_uc010sij.2_Missense_Mutation_p.G571K|SLCO1C1_uc009zip.3_Missense_Mutation_p.G454K|SLCO1C1_uc001rei.3_Missense_Mutation_p.G620K|SLCO1C1_uc010sik.2_Missense_Mutation_p.G502K NM_001145946 NP_001139416 Q9NYB5 SO1C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA. 620 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CCTCAAATGGGGATTTAAAAGA 0.376000 80 9 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114168236 114168236 + Nonsense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:114168236T>A uc001kzu.3 + 5 769 c.657T>A c.(655-657)taT>taA p.Y219* ACSL5_uc001kzs.3_Nonsense_Mutation_p.Y163*|ACSL5_uc001kzt.3_Nonsense_Mutation_p.Y163*|ACSL5_uc009xxz.3_Nonsense_Mutation_p.Y163*|ACSL5_uc010qrj.2_5'Flank NM_016234 NP_976314 Q9ULC5 ACSL5_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA. 163 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) TACCTCTGTATGACACCTTGG 0.418000 134 19 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5232490 5232490 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:5232490G>A uc003jdl.3 + 11 1849 c.1711G>A c.(1711-1713)Gga>Aga p.G571R ADAMTS16_uc003jdk.1_Missense_Mutation_p.G571R|ADAMTS16_uc010itk.1_5'Flank NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 571 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GTGGTGCCGGGGAGGACAGTG 0.517000 87 8 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38976596 38976596 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:38976596G>A uc021yzh.1 + 88 13330 c.13221G>A c.(13219-13221)caG>caA p.Q4407Q DNAH8_uc003ooe.2_Silent_p.Q4190Q NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CTAGGTATCAGAGTAACACTG 0.393000 110 7 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97439158 97439158 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:97439158A>T uc010how.1 + 14 2881 c.2838A>T c.(2836-2838)aaA>aaT p.K946N EPHA6_uc003drt.3_Missense_Mutation_p.K338N|EPHA6_uc010hox.1_Non-coding_Transcript NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 851 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CCTACAGAAAATTCTCCTCAG 0.448000 99 8 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113424927 113424927 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:113424927C>T uc001tuj.3 + 1 402 c.262C>T c.(262-264)Cag>Tag p.Q88* OAS2_uc001tuh.3_Nonsense_Mutation_p.Q88*|OAS2_uc001tui.1_Nonsense_Mutation_p.Q88* NM_016817 NP_058197 P29728 OAS2_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA. 88 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|RNA binding|nucleotidyltransferase activity NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 AAAACAATTCCAGGATCAGAA 0.453000 100 10 0 0 1 0 0 LINGO4 339398 broad.mit.edu 37 1 151773519 151773519 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:151773519A>G uc001ezf.1 - 1 1852 c.1662T>C c.(1660-1662)atT>atC p.I554I LINGO4_uc021oyu.1_Silent_p.I554I NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA. 554 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TCCAAAGGGCAATCAGGCCAA 0.567000 165 24 0 0 1 0 0 APEH 327 broad.mit.edu 37 3 49718605 49718605 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:49718605C>T uc010hkw.1 + 14 1771 c.1371C>T c.(1369-1371)ccC>ccT p.P457P APEH_uc003cxf.3_Silent_p.P457P NM_001640 NP_001631 P13798 ACPH_HUMAN Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA. 457 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGGCCGAGCCCATTCCCGACA 0.592000 72 8 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13862707 13862707 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:13862707G>A uc003jfd.2 - 28 4788 c.4746C>T c.(4744-4746)atC>atT p.I1582I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1582 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCATGTTGGCGATGATTTCCG 0.453000 Kartagener syndrome 70 4 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871891 51871891 + Missense_Mutation SNP G A A rs141129077 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:51871891G>A uc002xwo.3 + 1 2781 c.1894G>A c.(1894-1896)Gat>Aat p.D632N TSHZ2_uc021wex.1_Missense_Mutation_p.D629N NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 632 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CAGTGAGGGCGATTCTTTCCG 0.512000 81 11 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78337001 78337001 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:78337001C>T uc002jyh.2 + 40 11745 c.11602C>T c.(11602-11604)Cag>Tag p.Q3868* RNF213_uc021uen.1_Nonsense_Mutation_p.Q3819*|LOC100294362_uc002jyi.2_Intron NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN SubName: Full=Uncharacterized protein; 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CCTTGCCTACCAGCGTTTCAG 0.557000 122 9 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74492524 74492524 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:74492524A>G uc001dfy.4 - 7 2040 c.1848T>C c.(1846-1848)ttT>ttC p.F616F LRRIQ3_uc001dfz.4_Non-coding_Transcript NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA. 616 p.D615D(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TGGGAACTTTAAAGTCTAAAT 0.284000 22 4 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6251088 6251088 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:6251088C>T uc003mwv.3 - 4 769 c.646G>A c.(646-648)Gga>Aga p.G216R F13A1_uc011dib.2_Missense_Mutation_p.G153R NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 216 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.G216G(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TTGACCTCTCCATAAAAAATT 0.383000 61 4 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84694117 84694117 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:84694117C>T uc002bjz.4 + 26 4809 c.4585C>T c.(4585-4587)Cct>Tct p.P1529S ADAMTSL3_uc010bmt.1_Missense_Mutation_p.P1529S NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 1529 TSP type-1 9. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) AGCATGTGCCCCTAAAGACCG 0.522000 49 4 0 0 1 0 0 LRRC32 2615 broad.mit.edu 37 11 76371305 76371305 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:76371305G>A uc001oxq.4 - 2 1575 c.1332C>T c.(1330-1332)tcC>tcT p.S444S LRRC32_uc001oxr.4_Silent_p.S444S|LRRC32_uc010rsf.2_Silent_p.S444S NM_005512 NP_005503 Q14392 LRC32_HUMAN Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA. 444 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 GGCTGCGGAGGGAGGTGATGC 0.647000 15 3 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89938673 89938673 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:89938673G>A uc003kju.3 + 13 2464 c.2368_splice c.e13-1 p.E790_splice GPR98_uc003kjt.3_Splice_Site NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 790 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GTTTTTAAAGGAAGGAGAATC 0.373000 78 7 0 0 1 0 0 DTX2P1-UPK3BP1-PMS2P11 441263 broad.mit.edu 37 7 76681113 76681113 + RNA SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:76681113T>C uc003ufy.2 + 4 c.1090T>C Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) pseudogene (LOC100132832), non-coding RNA. GCACAAATGGTTCCTCTCCTC 0.517000 122 7 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25572769 25572769 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:25572769G>A uc002kwg.2 - 8 1653 c.1194C>T c.(1192-1194)atC>atT p.I398I CDH2_uc010xbn.1_Silent_p.I367I NM_001792 NP_001783 P19022 CADH2_HUMAN Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA. 398 Cadherin 3. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TAGCTACTATGATGTCTACCC 0.488000 85 7 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088099 86088099 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:86088099C>T uc021rxf.1 + 0 241 c.241C>T c.(241-243)Cct>Tct p.P81S FLRT2_uc001xvr.3_Missense_Mutation_p.P81S|FLRT2_uc010atd.3_Missense_Mutation_p.P81S NM_013231 NP_037363 O43155 FLRT2_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA. 81 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TGCTGGATTTCCTGCAGAACT 0.488000 170 11 0 0 1 0 0 HLA-DQA1 3117 broad.mit.edu 37 6 32605241 32605241 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:32605241C>T uc003obr.3 + 0 59 c.6C>T c.(4-6)atC>atT p.I2I HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_Silent_p.I2I NM_002122 NP_002113 P01909 DQA1_HUMAN Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA. 2 T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane MHC class II receptor activity NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 AGAGGATGATCCTAAACAAAG 0.522000 43 3 0 0 1 0 0 FAM123C 205147 broad.mit.edu 37 2 131521892 131521892 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:131521892C>T uc021voy.1 + 0 2247 c.2247C>T c.(2245-2247)gtC>gtT p.V749V FAM123C_uc002trw.2_Silent_p.V749V|FAM123C_uc010fmv.2_Silent_p.V749V|FAM123C_uc010fms.1_Silent_p.V749V|FAM123C_uc010fmt.1_Silent_p.V749V|FAM123C_uc010fmu.1_Silent_p.V749V NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 749 p.R748C(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GAGATCGTGTCCAGGACCTGA 0.637000 57 3 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34400132 34400132 + Missense_Mutation SNP G T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:34400132G>T uc010qej.2 - 24 4366 c.4036C>A c.(4036-4038)Cag>Aag p.Q1346K PARD3_uc010qep.2_Missense_Mutation_p.Q1256K|PARD3_uc010qeq.2_Missense_Mutation_p.Q1234K|PARD3_uc010qek.2_Missense_Mutation_p.Q1343K|PARD3_uc010qel.2_Missense_Mutation_p.Q1309K|PARD3_uc010qem.2_Missense_Mutation_p.Q1330K|PARD3_uc010qen.2_Missense_Mutation_p.Q1300K|PARD3_uc010qeo.2_Missense_Mutation_p.Q1263K NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA. 1346 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TCAGGAGTCTGAAGTCTGTTC 0.517000 69 6 0.00198382 0.00199191 1 1 0 CLASP1 23332 broad.mit.edu 37 2 122285421 122285421 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:122285421G>A uc002tnc.3 - 4 814 c.424C>T c.(424-426)Cgt>Tgt p.R142C CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.R142C|CLASP1_uc010yza.2_Missense_Mutation_p.R142C|CLASP1_uc021vnl.1_Missense_Mutation_p.R142C|CLASP1_uc010yzc.2_Intron|CLASP1_uc002tng.1_Missense_Mutation_p.R142C NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA. 142 G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) TCTCGAGTACGGAAATTCTTG 0.438000 58 10 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219886646 219886646 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:219886646C>T uc002vjl.1 - 17 3070 c.2986G>A c.(2986-2988)Gaa>Aaa p.E996K CCDC108_uc002vjm.3_5'Flank NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 996 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTCCTTTTCCTTTGCCTGG 0.592000 146 14 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51092839 51092839 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:51092839G>A uc003tps.3 - 12 3950 c.3765C>T c.(3763-3765)atC>atT p.I1255I COBL_uc003tpr.4_Silent_p.I1245I|COBL_uc011kcl.2_Silent_p.I1198I|COBL_uc003tpp.4_Silent_p.I1031I|COBL_uc003tpq.4_Silent_p.I1139I|COBL_uc003tpo.4_Silent_p.I787I NM_015198 NP_056013 O75128 COBL_HUMAN Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA. 1245 WH2 3. NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TGCCGGAGCGGATGGCGTCCA 0.632000 233 19 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629518 1629518 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:1629518G>A uc001ltw.1 - 0 176 c.98C>T c.(97-99)tCc>tTc p.S33F MOB2_uc001ltq.2_Intron NM_001012708 NP_001012726 Q6L8H2 KRA53_HUMAN Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA. 33 keratin filament p.G32V(1) endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) ACAGCAGCCGGAGCCACAGCC 0.677000 223 33 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857960 9857960 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:9857960G>A uc010uym.2 - 13 3751 c.3441C>T c.(3439-3441)ttC>ttT p.F1147F GRIN2A_uc002czo.4_Silent_p.F1147F|GRIN2A_uc010uyn.2_Silent_p.F990F|GRIN2A_uc002czr.4_Silent_p.F1147F NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1147 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGGGGTCCGGGAAGTCCACGT 0.527000 93 6 0 0 1 0 0 OR51A2 401667 broad.mit.edu 37 11 4976132 4976132 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:4976132G>A uc010qyt.2 - 0 812 c.812C>T c.(811-813)cCc>cTc p.P271L NM_001004748 NP_001004748 Q8NGJ7 O51A2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA. 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATTAATGAGGGGAGAGACATG 0.443000 99 15 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139756722 139756722 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:139756722C>T uc003vvl.1 - 2 1568 c.694G>A c.(694-696)Gac>Aac p.D232N PARP12_uc010lnf.1_Non-coding_Transcript NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA. 232 nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) TTCTTGATGTCATGTGCATTT 0.498000 123 8 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9018545 9018545 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9018545C>T uc002mkp.3 - 23 37833 c.37629G>A c.(37627-37629)ctG>ctA p.L12543L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12545 SEA 4. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGAACAGCACCAGGAGAGGGC 0.463000 173 16 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24199120 24199120 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:24199120G>A uc003xdy.3 + 15 1763 c.1680G>A c.(1678-1680)atG>atA p.M560I ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.M247I NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 560 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) GTGATACCATGTGTGGGAAGT 0.383000 200 13 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38510699 38510699 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:38510699G>A uc010ive.1 - 6 1190 c.858C>T c.(856-858)aaC>aaT p.N286N LIFR_uc003jli.2_Silent_p.N286N NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 286 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TCAAGGGGCAGTTTGTATGGC 0.373000 T PLAG1 salivary adenoma 49 4 0 0 1 0 0 ZP3 7784 broad.mit.edu 37 7 76062937 76062937 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:76062937C>T uc003ufd.4 + 3 696 c.686C>T c.(685-687)cCt>cTt p.P229L ZP3_uc003ufc.4_Missense_Mutation_p.P178L|ZP3_uc003ufe.3_Missense_Mutation_p.P137L NM_001110354 NP_009086 P21754 ZP3_HUMAN Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA. 229 ZP. binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of T cell proliferation|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade Golgi apparatus|endoplasmic reticulum|extracellular space|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 AATGCCTCCCCTTATCACACC 0.567000 179 15 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196664073 196664073 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:196664073G>A uc002utj.4 - 54 10401 c.10300C>T c.(10300-10302)Ctc>Ttc p.L3434F NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3434 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.V3433M(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CCAGGAGAGAGCACGAAAATC 0.423000 109 6 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193132441 193132441 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:193132441G>A uc003ftd.3 - 25 3049 c.2941C>T c.(2941-2943)Ctc>Ttc p.L981F ATP13A4_uc010hzi.3_Non-coding_Transcript NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 981 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.L981F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GCCAGGCTGAGAAGAATGTTG 0.498000 74 6 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117638418 117638418 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:117638418T>C uc003pxp.1 - 37 6222 c.6023A>G c.(6022-6024)aAc>aGc p.N2008S ROS1_uc011ebi.1_Non-coding_Transcript NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 2008 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CTTCAGAATGTTGGGATGATT 0.448000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 102 6 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57829070 57829070 + Missense_Mutation SNP C G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:57829070C>G uc002yan.3 + 4 4306 c.4306C>G c.(4306-4308)Ccc>Gcc p.P1436A NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1436 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CGTGCCTCTACCCCCTGGCAA 0.527000 57 4 0 0 1 0 0 ST14 6768 broad.mit.edu 37 11 130064064 130064064 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:130064064C>T uc001qfw.3 + 7 1089 c.896C>T c.(895-897)cCc>cTc p.P299L ST14_uc010sca.1_Missense_Mutation_p.P109L NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA. 299 CUB 1. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) ACCTACCCTCCCTCCTACAAC 0.587000 235 23 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21330955 21330956 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:21330955_21330956CC>TT uc002kuq.3 + 4 844_845 c.758_759CC>TT c.(757-759)acc>aTT p.T253I LAMA3_uc010dlv.2_Missense_Mutation_p.T253I|LAMA3_uc002kur.3_Missense_Mutation_p.T253I NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 253 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGGAGTTTACCAAGGCAACAA 0.475000 102 10 0 0 1 0 0 CCDC130 81576 broad.mit.edu 37 19 13873196 13873196 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:13873196C>T uc002mxc.1 + 8 874 c.657C>T c.(655-657)ccC>ccT p.P219P MRI1_uc002mxe.3_5'Flank|MRI1_uc002mxf.3_5'Flank NM_030818 NP_110445 P13994 CC130_HUMAN Homo sapiens coiled-coil domain containing 130 (CCDC130), mRNA. 219 response to virus protein binding endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) CGCTGGTGCCCGAGACGGAAG 0.612000 57 5 0 0 1 0 0 AMIGO2 347902 broad.mit.edu 37 12 47471806 47471806 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:47471806T>C uc001rpm.3 - 2 1635 c.980A>G c.(979-981)gAt>gGt p.D327G FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.D327G|AMIGO2_uc001rpl.3_Missense_Mutation_p.D327G|AMIGO2_uc021qxg.1_Missense_Mutation_p.D327G NM_001143668 NP_862830 Q86SJ2 AMGO2_HUMAN Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA. 327 Ig-like C2-type. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) CAGTCTGTTATCTGGACCCAC 0.463000 210 11 0 0 1 0 0 KRT27 342574 broad.mit.edu 37 17 38936698 38936698 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:38936698C>T uc002hvg.3 - 2 579 c.538G>A c.(538-540)Gag>Aag p.E180K NM_181537 NP_853515 Q7Z3Y8 K1C27_HUMAN Homo sapiens keratin 27 (KRT27), mRNA. 180 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) AGCGCTAGCTCGTTTTCAAAC 0.453000 34 3 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129903788 129903788 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:129903788G>A uc001lke.3 - 12 6511 c.6316C>T c.(6316-6318)Cca>Tca p.P2106S MKI67_uc001lkf.3_Missense_Mutation_p.P1746S|MKI67_uc009yav.1_Missense_Mutation_p.P1681S|MKI67_uc009yaw.1_Missense_Mutation_p.P1256S NM_002417 NP_002408 P46013 KI67_HUMAN Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA. 2106 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TCTGGTGGTGGAGATTTGCAG 0.493000 352 33 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140167623 140167623 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140167623G>A uc003lhb.2 + 0 1748 c.1748G>A c.(1747-1749)cGa>cAa p.R583Q PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R583Q NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 596 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTGCCGCGATTGGTGGGT 0.662000 123 12 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7647890 7647890 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:7647890C>T uc001qsz.3 - 5 1335 c.1207G>A c.(1207-1209)Gga>Aga p.G403R CD163_uc001qta.3_Missense_Mutation_p.G403R|CD163_uc009zfw.2_Missense_Mutation_p.G403R NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 403 SRCR 4. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.G403*(2) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TCTTTCAGTCCCCAGCCTCTG 0.502000 91 10 0 0 1 0 0 TAS2R39 259285 broad.mit.edu 37 7 142880857 142880857 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142880857A>G uc011ksw.2 + 0 346 c.346A>G c.(346-348)Agt>Ggt p.S116G NM_176881 NP_795362 P59534 T2R39_HUMAN Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA. 116 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) ATTCAAAATAAGTTTTATATT 0.373000 71 5 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35944284 35944284 + Splice_Site SNP G T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:35944284G>T uc004ddj.3 + 2 467 c.401_splice c.e2+1 p.G134_splice CXorf22_uc010ngv.3_Splice_Site NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 134 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TCCTCTAATTGGGTATGTAAT 0.313000 18 4 2.7689e-08 2.79588e-08 1 1 0 IL17RD 54756 broad.mit.edu 37 3 57132020 57132020 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:57132020G>A uc003dil.3 - 11 1800 c.1711C>T c.(1711-1713)Cca>Tca p.P571S IL17RD_uc003dik.3_Missense_Mutation_p.P547S|IL17RD_uc010hna.3_Missense_Mutation_p.P427S|IL17RD_uc011bex.1_Missense_Mutation_p.P427S NM_017563 NP_060033 Q8NFM7 I17RD_HUMAN Homo sapiens interleukin 17 receptor D (IL17RD), mRNA. 571 Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) TAGCGCAGTGGAGGAGGATGG 0.517000 46 5 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7324390 7324390 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:7324390C>T uc001mfe.3 + 1 503 c.266C>T c.(265-267)tCt>tTt p.S89F SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript NM_175733 NP_783860 Q86SS6 SYT9_HUMAN Homo sapiens synaptotagmin IX (SYT9), mRNA. 89 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) GGCCTGCCCTCTGGTAGCAAA 0.557000 91 4 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 84744883 84744883 + Missense_Mutation SNP G A A rs117241349 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:84744883G>A uc021pvc.1 + 9 1712 c.1685G>A c.(1684-1686)cGa>cAa p.R562Q NRG3_uc010qlz.1_Missense_Mutation_p.R537Q|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.R538Q|NRG3_uc001kcp.2_Missense_Mutation_p.R341Q|NRG3_uc001kcq.2_Missense_Mutation_p.R188Q|NRG3_uc021pvd.1_Missense_Mutation_p.R317Q|NRG3_uc021pve.1_Missense_Mutation_p.R342Q|NRG3_uc021pvf.1_Missense_Mutation_p.R188Q|NRG3_uc021pvg.1_Missense_Mutation_p.R366Q|NRG3_uc021pvh.1_Missense_Mutation_p.R150Q|NRG3_uc021pvi.1_Missense_Mutation_p.R368Q|NRG3_uc021pvk.1_Missense_Mutation_p.R78Q|NRG3_uc001kcr.2_Missense_Mutation_p.R212Q|NRG3_uc021pvl.1_Missense_Mutation_p.R188Q NM_001010848 NP_001010848 P56975 NRG3_HUMAN Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA. 562 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity p.R538Q(1)|p.R341Q(1)|p.D562H(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) AAAACCCAACGAAATACATCA 0.408000 155 23 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 56000423 56000423 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:56000423C>T uc010rjc.2 - 0 239 c.239G>A c.(238-240)gGa>gAa p.G80E NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA. 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G80E(2)|p.M79R(1) endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) TCCTAAATTTCCCATGAGAGT 0.413000 51 6 0 0 1 0 0 RIN1 9610 broad.mit.edu 37 11 66100813 66100813 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:66100813G>A uc001ohn.1 - 8 1918 c.1791C>T c.(1789-1791)acC>acT p.T597T RIN1_uc010roy.1_Silent_p.T228T|RIN1_uc009yrd.1_Silent_p.T290T|RIN1_uc010roz.1_Silent_p.T492T|RIN1_uc010rpa.1_Silent_p.T431T NM_004292 NP_004283 Q13671 RIN1_HUMAN Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA. 597 Ras and 14-3-3 protein binding region.|VPS9. endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 TCAGTGGGAGGGTGTGGGCCT 0.682000 38 6 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43420351 43420351 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:43420351G>A uc002ovj.1 - 1 452 c.353C>T c.(352-354)tCc>tTc p.S118F PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.S118F NM_002782 NP_002773 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA. 119 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) TAAGGTGTAGGATCCTGCATC 0.478000 400 15 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576414 158576414 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:158576414C>T uc010pio.2 + 0 186 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) TGTACCTCTTCCTTTCCTTCC 0.517000 218 16 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160261862 160261862 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:160261862G>A uc001fvv.4 - 28 3508 c.3114C>T c.(3112-3114)ttC>ttT p.F1038F COPA_uc009wti.3_Silent_p.F1029F NM_001098398 NP_001091868 P53621 COPA_HUMAN Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA. 1029 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGATGGAACGGAATTTTTCCA 0.512000 OREG0013929 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 208 21 0 0 1 0 0 USP13 8975 broad.mit.edu 37 3 179460024 179460024 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:179460024C>T uc003fkh.3 + 11 1501 c.1420C>T c.(1420-1422)Cgt>Tgt p.R474C NM_003940 NP_003931 Q92995 UBP13_HUMAN Homo sapiens ubiquitin specific peptidase 13 (isopeptidase T-3) (USP13), mRNA. 474 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) CGATGTTTTTCGTTTTTTGGT 0.473000 62 8 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99641494 99641494 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:99641494G>A uc001yga.3 - 3 1946 c.1679C>T c.(1678-1680)tCg>tTg p.S560L BCL11B_uc001ygb.3_Missense_Mutation_p.S489L NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA. 560 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GCTCAGCTCCGAGTCCATGCT 0.726000 T TLX3 T-ALL 8 3 0 0 1 0 0 OR8G2 26492 broad.mit.edu 37 11 124096240 124096240 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:124096240G>A uc010saf.2 + 0 843 c.843G>A c.(841-843)atG>atA p.M281I NM_001007249 NP_001007250 Q8N0Y1 Q8N0Y1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA. 281 integral to membrane olfactory receptor activity Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) TCAGCTCCATGGACCAGGGGA 0.473000 75 12 0 0 1 0 0 C10orf113 387638 broad.mit.edu 37 10 21414812 21414812 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:21414812G>A uc001iqm.3 - 1 459 c.408C>T c.(406-408)ttC>ttT p.F136F NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR NM_001010896 NP_001010896 Q5VZT2 CJ113_HUMAN Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA. 136 endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1) 7 TTATGCCCTGGAATTTAAATC 0.433000 126 11 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216060 20216060 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:20216060C>T uc010tkt.2 + 0 474 c.474C>T c.(472-474)atC>atT p.I158I NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA. 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCCACTCTATCATGCAGGTCA 0.507000 35 4 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136289454 136289454 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:136289454C>T uc004cdv.4 + 2 630 c.186C>T c.(184-186)tcC>tcT p.S62S ADAMTS13_uc004cdp.4_5'UTR|ADAMTS13_uc004cdt.1_Silent_p.S62S|ADAMTS13_uc004cdu.1_Silent_p.S62S|ADAMTS13_uc004cdw.4_Silent_p.S62S|ADAMTS13_uc004cdx.4_Silent_p.S62S|ADAMTS13_uc004cdq.1_Silent_p.S62S|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_5'UTR NM_139025 NP_620594 Q76LX8 ATS13_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA. 62 cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GCCCTCCTTCCCCTGGCTTCc 0.652000 116 30 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43153745 43153745 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:43153745C>T uc003ouk.3 + 3 878 c.803C>T c.(802-804)tCc>tTc p.S268F CUL9_uc003ouj.1_Missense_Mutation_p.S268F|CUL9_uc003oul.3_Missense_Mutation_p.S268F|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN Homo sapiens cullin 9 (CUL9), mRNA. 268 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 TGTGTCACGTCCCTCCTGGAT 0.542000 60 5 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31336837 31336837 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:31336837G>A uc002ebr.3 + 20 2623 c.2525G>A c.(2524-2526)cGa>cAa p.R842Q ITGAM_uc002ebq.3_Missense_Mutation_p.R841Q|ITGAM_uc010can.3_Missense_Mutation_p.R247Q|ITGAM_uc002ebs.1_Missense_Mutation_p.R247Q NM_001145808 NP_001139280 P11215 ITAM_HUMAN Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA. 841 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CGCTCACAGCGATCCTGGCGC 0.602000 62 5 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21236168 21236168 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:21236168C>T uc002red.3 - 24 4208 c.4080G>A c.(4078-4080)acG>acA p.T1360T NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1360 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGTAGACATTCGTGGAGAGGT 0.512000 183 9 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157405921 157405921 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:157405921C>T uc003qqp.3 + 4 2124 c.2124C>T c.(2122-2124)tcC>tcT p.S708S ARID1B_uc003qqo.3_Silent_p.S721S|ARID1B_uc003qqn.3_Silent_p.S708S|ARID1B_uc003qqq.1_Silent_p.S92S NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA. 708 Ser-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CGCCTTTCTCCCCACATGCGT 0.617000 112 10 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 172735764 172735764 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:172735764G>A uc003isv.3 + 1 769 c.33G>A c.(31-33)atG>atA p.M11I NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA. 11 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 TTCTGCAGATGACTTTGTTGT 0.458000 56 5 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101759870 101759870 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:101759870A>G uc001vox.1 - 21 2736 c.2547T>C c.(2545-2547)ttT>ttC p.F849F NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN Homo sapiens sodium leak channel, non-selective (NALCN), mRNA. 849 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CCACCCGGCAAAAGTTTCTGA 0.507000 72 9 0 0 1 0 0 SLC28A3 64078 broad.mit.edu 37 9 86912889 86912889 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:86912889G>A uc010mpz.3 - 6 861 c.715C>T c.(715-717)Ctt>Ttt p.L239F SLC28A3_uc011lsy.2_Missense_Mutation_p.L170F|SLC28A3_uc004anu.2_Missense_Mutation_p.L239F|SLC28A3_uc010mqb.3_Missense_Mutation_p.L170F NM_001199633 NP_001186562 Q9HAS3 S28A3_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA. 239 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 AAGAGCCCAAGAAGAAACTGT 0.413000 103 9 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3887537 3887537 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:3887537A>G uc003bpt.4 + 1 1973 c.1212A>G c.(1210-1212)gaA>gaG p.E404E SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.E404E NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA. 404 LRRCT. integral to membrane p.P403P(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TGCCGCCCGAATATAAAGGGC 0.493000 73 9 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88323882 88323882 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:88323882C>T uc001pcq.3 - 5 1777 c.1577G>A c.(1576-1578)gGa>gAa p.G526E GRM5_uc009yvm.3_Missense_Mutation_p.G526E NM_001143831 NP_001137303 P41594 GRM5_HUMAN Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA. 526 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GCTGACTTCTCCCTTTCGGAT 0.393000 81 5 0 0 1 0 0 TMEM174 134288 broad.mit.edu 37 5 72469289 72469289 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:72469289C>T uc010izc.3 + 0 267 c.219C>T c.(217-219)ctC>ctT p.L73L NM_153217 NP_694949 Q8WUU8 TM174_HUMAN Homo sapiens transmembrane protein 174 (TMEM174), mRNA. 73 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.46e-54) GGACCCAGCTCCTTGGGCCCG 0.507000 63 13 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176318112 176318112 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:176318112C>T uc003mfa.3 - 3 432 c.340G>A c.(340-342)Gag>Aag p.E114K HK3_uc003mez.3_5'Flank NM_002115 NP_002106 P52790 HXK3_HUMAN Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA. 114 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTATGCCCCTCAATGCCAGTT 0.612000 91 6 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26878656 26878656 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:26878656T>A uc001rhg.3 - 2 623 c.206A>T c.(205-207)cAg>cTg p.Q69L ITPR2_uc001rhh.1_Missense_Mutation_p.Q7L|ITPR2_uc001rhi.1_Missense_Mutation_p.Q69L NM_002223 NP_002214 Q14571 ITPR2_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA. 69 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) ATATTGCTTCTGGGCAGAATA 0.438000 38 3 0 0 1 0 0 IQCE 23288 broad.mit.edu 37 7 2638194 2638194 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:2638194C>T uc003sml.1 + 16 1720 c.1536C>T c.(1534-1536)tcC>tcT p.S512S IQCE_uc010ksm.1_Silent_p.S512S|IQCE_uc011jvy.1_Silent_p.S496S|IQCE_uc011jvz.1_Silent_p.S447S|IQCE_uc003smo.4_Silent_p.S512S|IQCE_uc003smk.4_Silent_p.S496S|IQCE_uc003smn.4_Silent_p.S447S NM_152558 NP_689771 Q6IPM2 IQCE_HUMAN Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA. 512 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) GGCCCCGCTCCCCCTGCTCTG 0.701000 63 8 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9060859 9060859 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9060859T>C uc002mkp.3 - 2 26791 c.26587A>G c.(26587-26589)Acc>Gcc p.T8863A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8865 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAAGGTGAGGTTACTGCAGAT 0.512000 93 6 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25836914 25836914 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:25836914G>A uc003gru.4 - 2 917 c.765C>T c.(763-765)gcC>gcT p.A255A NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA. 255 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 CTCCACTGGAGGCATAAGGAA 0.488000 93 5 0 0 1 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307918 46307919 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:46307918_46307919GG>AA uc002pdm.3 - 2 1415_1416 c.1244_1245CC>TT c.(1243-1245)ccc>cTT p.P415L RSPH6A_uc002pdl.3_Missense_Mutation_p.P151L NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA. 415 intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 TCTCCTCCTTGGGGATCACGGG 0.658000 66 11 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218683409 218683409 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:218683409C>T uc002vgt.2 - 23 3732 c.3334G>A c.(3334-3336)Gag>Aag p.E1112K TNS1_uc002vgr.2_Missense_Mutation_p.E1099K|TNS1_uc002vgs.2_Missense_Mutation_p.E1091K|TNS1_uc010zjv.1_Missense_Mutation_p.E1091K NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN Homo sapiens tensin 1 (TNS1), mRNA. 1112 Ser-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) AAGCCAGACTCCAACAGAGGC 0.627000 87 6 0 0 1 0 0 SYNDIG1L 646658 broad.mit.edu 37 14 74874367 74874367 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:74874367G>A uc001xpx.2 - 3 836 c.588C>T c.(586-588)ttC>ttT p.F196F NM_001105579 NP_001099049 A6NDD5 SYN1L_HUMAN Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA. 196 response to biotic stimulus Golgi apparatus|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1) 14 TGGCCAGGCGGAAGTCCCCTT 0.662000 161 14 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42695149 42695149 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:42695149G>A uc021xxv.1 + 4 555 c.418G>A c.(418-420)Ggt>Agt p.G140S GHR_uc003jmt.3_Missense_Mutation_p.G133S|GHR_uc003jmu.3_Missense_Mutation_p.G133S|GHR_uc003jmv.2_Missense_Mutation_p.G133S|GHR_uc021xxw.1_Missense_Mutation_p.G133S|GHR_uc021xxx.1_Missense_Mutation_p.G133S|GHR_uc021xxy.1_Missense_Mutation_p.G133S|GHR_uc021xxz.1_Missense_Mutation_p.G133S|GHR_uc021xya.1_Missense_Mutation_p.G133S|GHR_uc021xyb.1_Missense_Mutation_p.G133S|GHR_uc021xyc.1_Missense_Mutation_p.G133S|GHR_uc011cpq.2_5'UTR|GHR_uc021xyd.1_Missense_Mutation_p.G111S NM_001242399 NP_001229328 P10912 GHR_HUMAN Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA. 133 2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AACTAGCAATGGTGGTACAGT 0.363000 43 7 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125547539 125547539 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:125547539G>A uc010flu.3 + 17 3177 c.2813G>A c.(2812-2814)gGa>gAa p.G938E CNTNAP5_uc002tno.3_Missense_Mutation_p.G937E NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 937 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding p.Q938Q(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CACTTGAATGGACAGAAAATG 0.507000 84 12 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61570518 61570518 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:61570518C>T uc010xeu.2 + 8 1560 c.1227C>T c.(1225-1227)ttC>ttT p.F409F SERPINB2_uc002ljo.3_Silent_p.F409F|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron NM_001143818 NP_002566 P05120 PAI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA. 409 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis Golgi apparatus|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity p.F409I(1) NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TTTTATTTTTCGGCAGATTTT 0.388000 48 4 0 0 1 0 0 ACBD7 414149 broad.mit.edu 37 10 15059002 15059002 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:15059002C>T uc010qby.1 - 6 498 c.189G>A c.(187-189)tgG>tgA p.W63* DCLRE1C_uc021pni.1_Intron Q8N6N7 ACBD7_HUMAN Homo sapiens acyl-CoA binding domain containing 7 (ACBD7), mRNA. 0 ACB. fatty-acyl-CoA binding endometrium(1)|lung(4)|prostate(1) 6 TCTGAGTGATCCAGCTTTGAA 0.448000 189 14 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81213265 81213265 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:81213265G>A uc002fgh.1 - 12 2245 c.2245C>T c.(2245-2247)Cga>Tga p.R749* PKD1L2_uc002fgg.1_Non-coding_Transcript|PKD1L2_uc002fgi.3_Nonsense_Mutation_p.R64*|PKD1L2_uc002fgj.3_Nonsense_Mutation_p.R749*|PKD1L2_uc002fgk.1_5'Flank|PKD1L2_uc002fgl.1_Nonsense_Mutation_p.R64* NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 749 REJ. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GCTCTGATTCGGATGACCTCT 0.498000 102 7 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1520736 1520736 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:1520736C>T uc002qwr.3 + 14 2686 c.2600C>T c.(2599-2601)tCg>tTg p.S867L TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.S867L|TPO_uc002qwx.3_Missense_Mutation_p.S810L|TPO_uc002qwu.3_Missense_Mutation_p.S810L|TPO_uc010yio.2_Missense_Mutation_p.S694L|TPO_uc010yip.2_Missense_Mutation_p.S823L|TPO_uc002qwy.1_Missense_Mutation_p.S163L|TPO_uc002qwz.3_Non-coding_Transcript NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 867 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity p.S867S(1) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGTCTCACCTCGACGGTGATT 0.537000 37 4 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47349880 47349880 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:47349880C>T uc010gqb.3 + 11 1030 c.767C>T c.(766-768)cCc>cTc p.P256L PCBP3_uc002zhp.2_Missense_Mutation_p.P256L|PCBP3_uc002zhq.2_Missense_Mutation_p.P256L|PCBP3_uc002zhs.2_Missense_Mutation_p.P230L|PCBP3_uc002zht.2_Missense_Mutation_p.P246L NM_020528 NP_065389 P57721 PCBP3_HUMAN Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA. 256 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) CCCTTTCCTCCCCTCGGACAG 0.542000 246 22 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6181208 6181208 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:6181208C>T uc001amb.2 - 32 4980 c.4869G>A c.(4867-4869)gaG>gaA p.E1623E CHD5_uc001alz.2_Silent_p.E480E|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA. 1623 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TCTCCGTCTCCTCTGGCCGCT 0.667000 32 6 0 0 1 0 0 FLJ43315 644316 broad.mit.edu 37 GL000211.1 86279 86279 + RNA SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrGL000211.1:86279G>A uc003bnz.1 + 5 c.1027G>A FLJ43315_uc003boa.3_Non-coding_Transcript Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA. CTCTGTTACAGTGGTGAAATC 0.398000 8 3 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141794439 141794439 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141794439C>T uc003vwy.3 + 38 4692 c.4638C>T c.(4636-4638)ctC>ctT p.L1546L NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1546 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGTTCAGCCTCTTCGGCATAT 0.522000 81 5 0 0 1 0 0 PAX2 5076 broad.mit.edu 37 10 102566297 102566297 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:102566297C>T uc001krk.4 + 6 1346 c.796C>T c.(796-798)Cgg>Tgg p.R266W PAX2_uc001krm.4_Missense_Mutation_p.R266W|PAX2_uc001krn.4_Missense_Mutation_p.R243W|PAX2_uc001kro.4_Missense_Mutation_p.R243W|PAX2_uc010qps.2_Missense_Mutation_p.R242W|PAX2_uc001krl.4_Missense_Mutation_p.R243W|PAX2_uc001krp.1_Missense_Mutation_p.R239W NM_003990 NP_003981 Q02962 PAX2_HUMAN Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA. 266 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) AGCTTTGGATCGGGTCTTTGA 0.542000 385 27 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121674425 121674425 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:121674425C>T uc003vjy.3 + 16 5672 c.5277C>T c.(5275-5277)atC>atT p.I1759I PTPRZ1_uc011knt.2_Silent_p.I899I|PTPRZ1_uc003vjz.3_Silent_p.I892I NM_002851 NP_002842 P23471 PTPRZ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA. 1759 Tyrosine-protein phosphatase 1. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ACATAAATATCGTTGCCTGTA 0.393000 52 4 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21154169 21154169 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:21154169G>A uc001bec.3 - 26 4298 c.4042C>T c.(4042-4044)Cct>Tct p.P1348S EIF4G3_uc010odi.2_Missense_Mutation_p.P952S|EIF4G3_uc010odj.2_Missense_Mutation_p.P1347S|EIF4G3_uc009vpz.3_Missense_Mutation_p.P1068S|EIF4G3_uc001bef.3_Missense_Mutation_p.P1384S|EIF4G3_uc001bee.3_Missense_Mutation_p.P1354S NM_003760 NP_003751 O43432 IF4G3_HUMAN Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA. 1348 RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation eukaryotic translation initiation factor 4F complex RNA cap binding|protein binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CTTCCAACAGGAAGTAAAGGT 0.378000 53 6 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124402648 124402648 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:124402648G>A uc001lgk.1 + 52 7082 c.6976G>A c.(6976-6978)Gat>Aat p.D2326N DMBT1_uc001lgl.1_Missense_Mutation_p.D2316N|DMBT1_uc001lgm.1_Missense_Mutation_p.D1698N|DMBT1_uc021qaf.1_Missense_Mutation_p.D2326N|DMBT1_uc021qag.1_Missense_Mutation_p.D2316N|DMBT1_uc021qah.1_Missense_Mutation_p.D1698N|DMBT1_uc009xzz.1_Missense_Mutation_p.D2325N|DMBT1_uc010qtx.1_Missense_Mutation_p.D1046N|DMBT1_uc009yab.1_Missense_Mutation_p.D1029N|DMBT1_uc009yac.1_Missense_Mutation_p.D620N NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 2326 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ATGCGTGAGGGATGACACCTA 0.577000 123 7 0 0 1 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95201837 95201837 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:95201837G>A uc003htb.4 + 19 2696 c.2519G>A c.(2518-2520)cGa>cAa p.R840Q SMARCAD1_uc003htc.4_Missense_Mutation_p.R838Q|SMARCAD1_uc003htd.4_Missense_Mutation_p.R840Q|SMARCAD1_uc010ila.3_Missense_Mutation_p.R703Q|SMARCAD1_uc011cdw.2_Missense_Mutation_p.R408Q NM_001128430 NP_001121902 Q9H4L7 SMRCD_HUMAN Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA. 838 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) AAACAGTACCGACACATTAAT 0.353000 140 14 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38627372 38627372 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:38627372G>A uc021wvo.1 - 14 2649 c.2597C>T c.(2596-2598)tCg>tTg p.S866L SCN5A_uc021wvk.1_Missense_Mutation_p.S866L|SCN5A_uc021wvl.1_Missense_Mutation_p.S866L|SCN5A_uc021wvm.1_Missense_Mutation_p.S866L|SCN5A_uc021wvn.1_Missense_Mutation_p.S866L|SCN5A_uc021wvp.1_Missense_Mutation_p.S866L|SCN5A_uc021wvq.1_Missense_Mutation_p.S866L|SCN5A_uc021wvr.1_Missense_Mutation_p.S866L|SCN5A_uc021wvs.1_Missense_Mutation_p.S866L|SCN5A_uc021wvt.1_Missense_Mutation_p.S866L|SCN5A_uc021wvu.1_Missense_Mutation_p.S866L|SCN5A_uc021wvv.1_Missense_Mutation_p.S866L|SCN5A_uc021wvj.1_Missense_Mutation_p.S732L|SCN5A_uc021wvi.1_Missense_Mutation_p.S732L|SCN5A_uc021wvw.1_Missense_Mutation_p.S477L NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 866 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CCTCAGCTCCGAGTAGTTCTT 0.567000 175 22 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102334163 102334163 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:102334163C>T uc004eju.3 - 15 1435 c.1364G>A c.(1363-1365)gGg>gAg p.G455E NXF3_uc010noi.1_Missense_Mutation_p.G305E NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA. 455 NTF2. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding p.G455G(1)|p.G455W(1) NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 CTTGAACACCCCGTTGACAGA 0.587000 191 34 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71127806 71127806 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:71127806C>T uc002ezr.3 - 10 1511 c.1360G>A c.(1360-1362)Ggg>Agg p.G454R HYDIN_uc010cfz.2_Missense_Mutation_p.G199R|HYDIN_uc021tkq.1_Missense_Mutation_p.G454R|HYDIN_uc010vmc.2_Missense_Mutation_p.G471R|HYDIN_uc010vmd.2_Missense_Mutation_p.G481R|HYDIN_uc002ezw.4_Missense_Mutation_p.G471R NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 454 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATGCCTTCCCCTTTGATTCGG 0.428000 48 8 0 0 1 0 0 abParts 0 broad.mit.edu 37 2 90193258 90193258 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:90193258C>T uc010yts.2 + 34 c.4115C>T Parts of antibodies, mostly variable regions. CAGCAGAAACCAGGGAAAGCT 0.527000 207 7 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702367 27702367 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:27702367G>A uc001itu.2 - 0 931 c.813C>T c.(811-813)gcC>gcT p.A271A NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 271 spermatid development integral to membrane hedgehog receptor activity p.Y270Y(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TCACCTGCCAGGCGTACAGGA 0.622000 58 8 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94964509 94964509 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:94964509G>A uc001ydj.3 - 2 1022 c.226C>T c.(226-228)Ccc>Tcc p.P76S NM_173850 NP_776249 Q8IW75 SPA12_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA. 76 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) ATGCTCAAGGGGGATAGGAAG 0.532000 84 18 0 0 1 0 0 KRT36 8689 broad.mit.edu 37 17 39643906 39643906 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:39643906G>A uc002hwt.3 - 3 783 c.783C>T c.(781-783)atC>atT p.I261I NM_003771 NP_003762 O76013 KRT36_HUMAN Homo sapiens keratin 36 (KRT36), mRNA. 261 Coil 2.|Rod. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) TATCCTCCAGGATCTTGTTGA 0.587000 166 14 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299437 125299437 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:125299437C>T uc004euk.2 - 0 644 c.471G>A c.(469-471)ctG>ctA p.L157L NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA. 157 p.E156K(1) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 TGGAGGGATTCAGCTCGATGG 0.687000 70 5 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21230393 21230393 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:21230393C>T uc002red.3 - 25 9475 c.9347G>A c.(9346-9348)gGa>gAa p.G3116E NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3116 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.G3116*(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCCATTTATTCCTACATGGGC 0.383000 91 4 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 10756350 10756350 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:10756350C>T uc003wtk.1 - 2 1065 c.1038G>A c.(1036-1038)agG>agA p.R346R NM_173683 NP_775954 Q5GH73 XKR6_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA. 346 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) TCTTGTCGTCCCTGGAGTCCC 0.557000 120 8 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617180 77617180 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:77617180C>T uc003yau.2 + 1 1244 c.857C>T c.(856-858)tCt>tTt p.S286F ZFHX4_uc003yat.1_Missense_Mutation_p.S286F|ZFHX4_uc003yaw.1_Missense_Mutation_p.S286F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 286 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S286S(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGCAAGTTGTCTTTTGGTTAT 0.428000 HNSCC(33;0.089) 57 7 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119954511 119954511 + Splice_Site SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:119954511A>G uc001txe.3 + 8 1433 c.968_splice c.e8+1 p.S323_splice AF086288_uc001txf.3_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA. 323 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) AAAAGCACCCAGGTATGTGCT 0.443000 28 7 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128487751 128487752 + Splice_Site DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:128487751_128487752GG>AA uc003vnz.4 + 25 4498 c.4289_splice c.e25-1 p.G1430_splice FLNC_uc003voa.4_Splice_Site_p.G1430_splice NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1430 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CTCCTCACAGGGAGCCCGTTCC 0.644000 132 8 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20975996 20975996 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:20975996G>A uc010vbe.2 - 52 9210 c.9210C>T c.(9208-9210)atC>atT p.I3070I DNAH3_uc010vbd.2_Silent_p.I505I NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 3070 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGGATACAATGATGCCATTGT 0.498000 59 7 0 0 1 0 0 SPDYE7P 441251 broad.mit.edu 37 7 72339456 72339456 + RNA SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:72339456G>A uc010lal.1 - 0 c.200C>T Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA. GCTCAGGGGCGAGCACCTTCC 0.602000 39 3 0 0 1 0 0 NCL 4691 broad.mit.edu 37 2 232321448 232321448 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:232321448G>A uc002vru.3 - 10 1740 c.1599C>T c.(1597-1599)ttC>ttT p.F533F SNORA75_uc002vrv.1_5'Flank|SNORD20_uc002vrw.1_5'Flank NM_005381 NP_005372 P19338 NUCL_HUMAN Homo sapiens nucleolin (NCL), mRNA. 533 RRM 3. angiogenesis cell cortex|nucleolus|ribonucleoprotein complex RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3) 35 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) TAGCGTCTTCGAATGAAGCAA 0.438000 66 10 0 0 1 0 0 SERPINB7 8710 broad.mit.edu 37 18 61449756 61449756 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:61449756C>T uc002ljl.3 + 1 246 c.150C>T c.(148-150)tcC>tcT p.S50S SERPINB7_uc002ljm.3_Silent_p.S50S|SERPINB7_uc010xet.2_Silent_p.S50S|SERPINB7_uc010dqg.3_Silent_p.S50S NM_001040147 NP_003775 O75635 SPB7_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA. 50 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) AAGATGACTCCCTCTCTCAGA 0.478000 91 10 0 0 1 0 0 C15orf42 90381 broad.mit.edu 37 15 90167455 90167455 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:90167455C>T uc002boe.3 + 19 3914 c.3914C>T c.(3913-3915)cCt>cTt p.P1305L C15orf42_uc021sug.1_Missense_Mutation_p.P1304L NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA. 1305 Pro-rich. DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 59 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TCTTCCCCACCTGTTACGCCA 0.448000 196 15 0 0 1 0 0 BCDIN3D 144233 broad.mit.edu 37 12 50232487 50232487 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:50232487G>A uc001rvh.3 - 1 588 c.546C>T c.(544-546)ttC>ttT p.F182F LOC100286844_uc010smm.2_Intron|LOC100286844_uc001rvg.3_Non-coding_Transcript|LOC100286844_uc010smn.2_Non-coding_Transcript NM_181708 NP_859059 Q7Z5W3 BN3D2_HUMAN Homo sapiens BCDIN3 domain containing (BCDIN3D), mRNA. 182 Bin3-type SAM. methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1) 9 GATGGGCCAGGAACTCCCATA 0.522000 OREG0021805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 79 8 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544307 82544307 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:82544307G>A uc003uhx.2 - 6 13284 c.12995C>T c.(12994-12996)tCa>tTa p.S4332L PCLO_uc003uhv.2_Missense_Mutation_p.S4332L|PCLO_uc010lec.3_Missense_Mutation_p.S1297L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4263 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCAGAGGATGATGCATGACT 0.423000 39 4 0 0 1 0 0 FANCA 2175 broad.mit.edu 37 16 89831331 89831331 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:89831331G>A uc002fou.1 - 27 2787 c.2745C>T c.(2743-2745)acC>acT p.T915T FANCA_uc010vpn.1_Silent_p.T915T|FANCA_uc010vpo.2_Silent_p.T44T NM_000135 NP_000126 O15360 FANCA_HUMAN Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA. 915 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) CCTCTCGGAAGGTTCTGTGTG 0.552000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 86 9 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114327001 114327001 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:114327001C>T uc003ynu.3 - 1 359 c.200G>A c.(199-201)gGa>gAa p.G67E CSMD3_uc003ynt.3_Missense_Mutation_p.G27E|CSMD3_uc011lhx.2_Missense_Mutation_p.G67E|CSMD3_uc010mcx.1_Missense_Mutation_p.G67E|CSMD3_uc003ynx.4_Missense_Mutation_p.G67E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 67 CUB 1. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTTTAAAGTTCCACCACATGT 0.318000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 114 8 0 0 1 0 0 OR2A12 346525 broad.mit.edu 37 7 143792875 143792875 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:143792875G>A uc011kty.2 + 0 675 c.675G>A c.(673-675)ttG>ttA p.L225L NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA. 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) TGGCCATCTTGAGGATCCAGT 0.587000 217 19 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79936185 79936185 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:79936185A>T uc004akr.3 + 42 5776 c.5516A>T c.(5515-5517)gAc>gTc p.D1839V VPS13A_uc004akp.4_Missense_Mutation_p.D1839V|VPS13A_uc004akq.4_Missense_Mutation_p.D1839V|VPS13A_uc004aks.3_Missense_Mutation_p.D1800V|VPS13A_uc004akt.3_Missense_Mutation_p.D179V NM_033305 NP_150648 Q96RL7 VP13A_HUMAN Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA. 1839 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CATTCAAAAGACCAATTAAAC 0.294000 20 5 0 0 1 0 0 IGF2BP2 10644 broad.mit.edu 37 3 185404970 185404970 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:185404970G>A uc003fpo.3 - 6 766 c.687C>T c.(685-687)atC>atT p.I229I IGF2BP2_uc010hyi.3_Silent_p.I172I|IGF2BP2_uc010hyj.3_Silent_p.I166I|IGF2BP2_uc010hyk.3_Silent_p.I93I|IGF2BP2_uc010hyl.3_Silent_p.I166I|IGF2BP2_uc003fpp.3_Silent_p.I229I|IGF2BP2_uc003fpq.3_Silent_p.I234I NM_006548 NP_006539 Q9Y6M1 IF2B2_HUMAN Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA. 229 KH 1. anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 20 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) CTTTTCTATGGATATCTACCC 0.493000 58 5 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119915400 119915400 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:119915400G>A uc003vjj.1 + 0 1679 c.714G>A c.(712-714)atG>atA p.M238I NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA. 238 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) CCTGCGTCATGATCTTCACAG 0.542000 63 8 0 0 1 0 0 PRIC285 85441 broad.mit.edu 37 20 62192271 62192271 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:62192271G>A uc002yfm.2 - 15 8050 c.7158C>T c.(7156-7158)ctC>ctT p.L2386L PRIC285_uc002yfl.1_Silent_p.L1817L NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA. 2386 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2) 47 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) TGTGGTCTCCGAGAAGAACCA 0.627000 117 14 0 0 1 0 0 GPR75 10936 broad.mit.edu 37 2 54081276 54081276 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:54081276G>A uc021vhn.1 - 0 618 c.618C>T c.(616-618)ctC>ctT p.L206L GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Silent_p.L206L NM_006794 NP_006785 O95800 GPR75_HUMAN Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA. 206 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CGACCACATAGAGAGACAAAA 0.507000 90 11 0 0 1 0 0 CDC25C 995 broad.mit.edu 37 5 137666877 137666877 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:137666877G>A uc003lcs.1 - 1 427 c.227C>T c.(226-228)tCg>tTg p.S76L CDC25C_uc003lcp.1_5'UTR|CDC25C_uc003lcq.1_5'UTR|CDC25C_uc003lcr.1_5'UTR|CDC25C_uc011cyp.1_Missense_Mutation_p.S15L|CDC25C_uc010jet.1_5'UTR|CDC25C_uc003lct.1_5'UTR|CDC25C_uc003lcu.1_5'UTR NM_001790 NP_001781 P30307 MPIP3_HUMAN Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA. 0 DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm WW domain binding|protein tyrosine phosphatase activity endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CATGGTCTTCGAATTCTCACC 0.443000 47 4 0 0 1 0 0 HEBP1 50865 broad.mit.edu 37 12 13128335 13128335 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:13128335G>A uc001rbd.3 - 3 672 c.477C>T c.(475-477)gcC>gcT p.A159A NM_015987 NP_057071 Q9NRV9 HEBP1_HUMAN Homo sapiens heme binding protein 1 (HEBP1), mRNA. 159 circadian rhythm extracellular region p.A159V(1) breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 7 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.153) CCCGGTAGGTGGCTGTGCCCT 0.592000 81 9 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62518589 62518589 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:62518589G>A uc003dll.2 - 12 2608 c.2248C>T c.(2248-2250)Cac>Tac p.H750Y CADPS_uc003dlk.1_Missense_Mutation_p.H254Y|CADPS_uc003dlm.2_Missense_Mutation_p.H750Y|CADPS_uc003dln.2_Missense_Mutation_p.H733Y|CADPS_uc021wzv.1_Missense_Mutation_p.H750Y NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA. 750 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) AAGCTGTAGTGAAGAAGGGTG 0.532000 52 4 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9561341 9561341 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:9561341C>T uc002wnl.2 - 4 986 c.441G>A c.(439-441)agG>agA p.R147R PAK7_uc002wnk.2_Silent_p.R147R|PAK7_uc002wnj.2_Silent_p.R147R|PAK7_uc010gby.1_Silent_p.R147R NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 147 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GACTCTTCTCCCTGTACTTTT 0.517000 146 10 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141337075 141337076 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:141337075_141337076CC>TT uc003llx.3 - 0 1552_1553 c.341_342GG>AA c.(340-342)ggg>gAA p.G114E NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN Homo sapiens protocadherin 12 (PCDH12), mRNA. 114 Cadherin 1. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCCAAATCCCCTGTGGCAAG 0.574000 144 7 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4920507 4920507 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:4920507G>A uc001qng.3 + 0 2166 c.1300G>A c.(1300-1302)Ggg>Agg p.G434R KCNA6_uc021qtr.1_Missense_Mutation_p.G434R NM_002235 NP_002226 P17658 KCNA6_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA. 434 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CATGACTGTGGGGGGAAAGAT 0.577000 HNSCC(72;0.22) 124 19 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35606211 35606211 + Missense_Mutation SNP G A A rs144314548 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:35606211G>A uc003xjr.2 + 11 2261 c.1933G>A c.(1933-1935)Gag>Aag p.E645K UNC5D_uc003xjs.2_Missense_Mutation_p.E640K|UNC5D_uc003xju.2_Missense_Mutation_p.E221K NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA. 645 ZU5. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GGGCAAATGGGAGGTGAGACC 0.438000 68 8 0 0 1 0 0 SIDT2 51092 broad.mit.edu 37 11 117056931 117056931 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:117056931G>A uc001pqg.2 + 8 995 c.954G>A c.(952-954)gaG>gaA p.E318E SIDT2_uc010rxe.1_Silent_p.E318E|SIDT2_uc001pqh.1_Silent_p.E318E|SIDT2_uc001pqi.1_Silent_p.E318E NM_001040455 NP_001035545 Q8NBJ9 SIDT2_HUMAN Homo sapiens SID1 transmembrane family, member 2 (SIDT2), mRNA. 318 integral to membrane|lysosomal membrane NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) CCTGCTGGGAGAACTGGAGGT 0.572000 72 8 0 0 1 0 0 HS3ST2 9956 broad.mit.edu 37 16 22926337 22926337 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:22926337G>A uc002dli.3 + 1 630 c.558G>A c.(556-558)gaG>gaA p.E186E NM_006043 NP_006034 Q9Y278 HS3S2_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA. 186 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) TCACTCAAGAGGCTCCTCGAC 0.557000 108 11 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3239094 3239094 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:3239094C>T uc004crg.4 - 4 4789 c.4632G>A c.(4630-4632)gtG>gtA p.V1544V NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1544 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTTCATTGTTCACTGGGGTTG 0.418000 75 18 0 0 1 0 0 SPAST 6683 broad.mit.edu 37 2 32352053 32352053 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:32352053T>C uc002roc.3 + 7 1356 c.1135T>C c.(1135-1137)Tta>Cta p.L379L SPAST_uc002rod.3_Silent_p.L347L NM_014946 NP_055761 Q9UBP0 SPAST_HUMAN Homo sapiens spastin (SPAST), transcript variant 1, mRNA. 379 Sufficient for microtubule severing. ER to Golgi vesicle-mediated transport|cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle ATP binding|alpha-tubulin binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CAGAGGGCTGTTACTCTTTGG 0.368000 63 4 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62856628 62856628 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:62856628C>T uc002jey.2 - 10 4252 c.3636G>A c.(3634-3636)agG>agA p.R1212R LRRC37A3_uc010wqg.1_Silent_p.R330R|LRRC37A3_uc002jex.1_Silent_p.R189R|LRRC37A3_uc010wqf.1_Silent_p.R250R|LRRC37A3_uc010dek.1_Silent_p.R218R|DQ578599_uc021ubv.1_5'Flank NM_199340 NP_955372 O60309 L37A3_HUMAN Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA. 1212 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GTTTCAGCTCCCTTGGGGCTG 0.562000 91 15 0 0 1 0 0 ZNF683 257101 broad.mit.edu 37 1 26691668 26691668 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:26691668G>A uc001bmg.1 - 3 487 c.369C>T c.(367-369)ttC>ttT p.F123F ZNF683_uc001bmh.1_Silent_p.F123F|ZNF683_uc009vsj.1_Silent_p.F123F NM_173574 NP_775845 Q8IZ20 ZN683_HUMAN Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA. 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) ACTTGACTGTGAATTTCTTGT 0.567000 23 3 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48750426 48750426 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:48750426C>T uc002isl.3 + 17 2416 c.2336C>T c.(2335-2337)tCc>tTc p.S779F NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 779 ABC transporter 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GACCCACTGTCCGCGGTGGAC 0.607000 116 16 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104433278 104433278 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:104433278G>A uc004bbp.2 - 2 2017 c.1416C>T c.(1414-1416)ccC>ccT p.P472P GRIN3A_uc004bbq.1_Silent_p.P472P NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 472 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding p.P472P(2) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GCTTTCCCATGGGGTCATGTT 0.502000 121 24 0 0 1 0 0 TH1L 51497 broad.mit.edu 37 20 57566462 57566462 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:57566462C>T uc002yag.3 + 8 1104 c.1077C>T c.(1075-1077)atC>atT p.I359I TH1L_uc002yaf.1_Non-coding_Transcript NM_198976 NP_945327 Q8IXH7 NELFD_HUMAN Homo sapiens TH1-like (Drosophila) (TH1L), transcript variant 1, mRNA. 359 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 all_lung(29;0.00711) Colorectal(105;0.109) ACATCCACATCTTGGCGTACG 0.498000 106 14 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271053 1271053 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:1271053G>A uc001lta.3 + 30 13002 c.12943G>A c.(12943-12945)Gcc>Acc p.A4315T NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 4315 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GACAAGCACAGCCACCAAATC 0.622000 255 35 0 0 1 0 0 DNM1 1759 broad.mit.edu 37 9 131010938 131010938 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:131010938C>T uc022bob.1 + 18 2069 c.1982C>T c.(1981-1983)aCc>aTc p.T661I DNM1_uc022bny.1_Missense_Mutation_p.T661I|DNM1_uc022bnz.1_3'UTR|DNM1_uc022boa.1_3'UTR|DNM1_uc004bub.1_Missense_Mutation_p.T34I|DNM1_uc004buc.1_Missense_Mutation_p.T128I NM_004408 NP_004399 Q05193 DYN1_HUMAN Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA. 661 GED. receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 CAAGTGGAGACCATCCGGAAT 0.537000 202 43 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51387802 51387802 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:51387802G>A uc011bds.2 + 39 4109 c.4086G>A c.(4084-4086)agG>agA p.R1362R NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 1362 DHR-2. cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TCTATGGCAGGAAGTTTCCTT 0.428000 80 12 0 0 1 0 0 FZD1 8321 broad.mit.edu 37 7 90895665 90895665 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:90895665C>T uc003ula.3 + 0 1883 c.1470C>T c.(1468-1470)ttC>ttT p.F490F NM_003505 NP_003496 Q9UP38 FZD1_HUMAN Homo sapiens frizzled family receptor 1 (FZD1), mRNA. 490 G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding p.F490F(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) TGCGTGGCTTCGTGCTGGCGC 0.612000 281 22 0 0 1 0 0 CACNB1 782 broad.mit.edu 37 17 37331556 37331557 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:37331556_37331557GG>AA uc002hrm.2 - 13 1894_1895 c.1686_1687CC>TT c.(1684-1689)aaccgg>aaTTgg p.R563W CACNB1_uc002hrl.1_Missense_Mutation_p.R335W NM_000723 NP_000714 Q02641 CACB1_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA. 563 axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) CCCCGGTTCCGGTTGTCGGTCA 0.658000 OREG0024371 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 271 17 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38448420 38448420 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:38448420G>A uc003jlc.2 + 18 2852 c.2506G>A c.(2506-2508)Gag>Aag p.E836K EGFLAM_uc003jlb.2_Missense_Mutation_p.E828K|EGFLAM_uc003jle.2_Missense_Mutation_p.E594K|EGFLAM_uc003jlf.2_Missense_Mutation_p.E194K|EGFLAM_uc003jlg.2_5'UTR NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 836 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) AGAAGCCATTGAGATCCCGCA 0.483000 212 20 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 210856645 210856645 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:210856645C>T uc001hib.2 - 10 3118 c.2948G>A c.(2947-2949)aGa>aAa p.R983K KCNH1_uc001hic.2_Missense_Mutation_p.R956K NM_172362 NP_758872 O95259 KCNH1_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA. 983 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) AAAAATGTCTCTCTCTGATTC 0.468000 154 7 0 0 1 0 0 AADACL3 126767 broad.mit.edu 37 1 12785598 12785599 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:12785598_12785599CC>TT uc009vnn.1 + 3 921_922 c.688_689CC>TT c.(688-690)cca>TTa p.P230L AADACL3_uc001aug.1_Missense_Mutation_p.P160L NM_001103170 NP_001096640 Q5VUY0 ADCL3_HUMAN Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA. 230 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GTGGTTGGGCCCAGAAAACATC 0.480000 86 6 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49662469 49662469 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:49662469C>T uc003cxe.4 + 1 400 c.286C>T c.(286-288)Ccg>Tcg p.P96S NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 96 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TTCCCCAACTCCGAAGCAGGC 0.582000 61 8 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70858292 70858292 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:70858292C>T uc003kbp.1 + 37 7951 c.7688C>T c.(7687-7689)cCa>cTa p.P2563L BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA. 2563 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GATCTGCTTCCATCTCCAAGT 0.363000 72 9 0 0 1 0 0 OR10P1 121130 broad.mit.edu 37 12 56030722 56030722 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:56030722G>A uc010spq.2 + 0 47 c.47G>A c.(46-48)gGa>gAa p.G16E NM_206899 NP_996782 Q8NGE3 O10P1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 CTCCTTCTGGGATTCTCTGAC 0.527000 142 13 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6498690 6498690 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:6498690T>C uc001iji.1 - 13 1776 c.1692A>G c.(1690-1692)ttA>ttG p.L564L PRKCQ_uc001ijj.2_Silent_p.L531L|PRKCQ_uc009xim.2_Silent_p.L531L|PRKCQ_uc009xin.2_Silent_p.L495L|PRKCQ_uc010qax.2_Silent_p.L406L NM_006257 NP_006248 Q04759 KPCT_HUMAN Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA. 531 Protein kinase. T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 TGGCATCTCCTAACATGTTCT 0.493000 63 4 0 0 1 0 0 SLC22A17 51310 broad.mit.edu 37 14 23817754 23817754 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:23817754C>T uc001wjl.3 - 3 890 c.653G>A c.(652-654)cGa>cAa p.R218Q SLC22A17_uc010akk.3_Splice_Site|SLC22A17_uc001wjm.3_Missense_Mutation_p.R218Q|SLC22A17_uc001wjn.3_Splice_Site NM_020372 NP_065105 Q8WUG5 S22AH_HUMAN Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA. 218 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) GGTGATCATTCGCTGTAGGAA 0.572000 151 26 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7522042 7522042 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:7522042C>T uc010sge.2 - 14 4006 c.3980G>A c.(3979-3981)gGa>gAa p.G1327E CD163L1_uc001qsy.3_Missense_Mutation_p.G1317E NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 1317 SRCR 12. extracellular region|integral to membrane|plasma membrane scavenger receptor activity p.H1326N(1) breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TGACTCATTTCCTTTGCACCG 0.557000 133 8 0 0 1 0 0 FAM75E1 286234 broad.mit.edu 37 9 90500585 90500585 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:90500585G>A uc004app.4 + 3 1218 c.1183G>A c.(1183-1185)Ggg>Agg p.G395R FAM75E1_uc004apo.1_Missense_Mutation_p.G207R NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA. 395 integral to membrane GACATCACTGGGGAAGGAGTG 0.567000 117 8 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767571 77767571 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:77767571C>T uc003yau.2 + 9 8801 c.8414C>T c.(8413-8415)tCg>tTg p.S2805L ZFHX4_uc003yaw.1_Missense_Mutation_p.S2760L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2760 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAGACTTCATCGATTAATACG 0.453000 HNSCC(33;0.089) 30 5 0 0 1 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895590 42895590 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:42895590A>T uc003gwt.3 + 0 308 c.307A>T c.(307-309)Aat>Tat p.N103Y NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA. 103 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 TTTAAGCAAAAATGGCACAGT 0.428000 87 5 0 0 1 0 0 SERPINB1 1992 broad.mit.edu 37 6 2833938 2833939 + Missense_Mutation DNP GG AC AC rs143196754 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:2833938_2833939GG>AC uc003mub.3 - 6 1087_1088 c.1043_1044CC>GT c.(1042-1044)ccc>cGT p.P348R NM_030666 NP_109591 P30740 ILEU_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 1 (SERPINB1), mRNA. 348 regulation of proteolysis cytoplasm|extracellular space serine-type endopeptidase inhibitor activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2) 13 Ovarian(93;0.0412) OV - Ovarian serous cystadenocarcinoma(45;0.0717) AATTTTCTTCGGGCATCAACAT 0.446000 37 3 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28412933 28412933 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:28412933G>A uc001zbj.3 - 67 10560 c.10454C>T c.(10453-10455)aCt>aTt p.T3485I NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 3485 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGCCGACGGAGTCACTGCAGA 0.527000 74 14 0 0 1 0 0 C12orf63 374467 broad.mit.edu 37 12 97043781 97043781 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:97043781G>A uc021rcc.1 + 1 156 c.78G>A c.(76-78)aaG>aaA p.K26K Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 26 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 CTAAAGAAAAGGACCGAGGAG 0.338000 89 6 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47221609 47221609 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:47221609C>T uc010fbb.3 + 6 1325 c.957C>T c.(955-957)ttC>ttT p.F319F TTC7A_uc002rvm.3_Silent_p.F285F|TTC7A_uc002rvn.1_Silent_p.F200F|TTC7A_uc002rvo.3_Silent_p.F319F|TTC7A_uc010fbc.3_Intron|TTC7A_uc002rvp.3_Silent_p.F200F|TTC7A_uc002rvq.3_Silent_p.F59F|TTC7A_uc002rvr.3_5'UTR NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA. 319 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) AGAGTTCTTTCGCCACTCAGG 0.597000 125 15 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133078573 133078573 + Missense_Mutation SNP G A A rs149351884 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:133078573G>A uc003qdt.3 - 1 337 c.326C>T c.(325-327)cCg>cTg p.P109L VNN2_uc003qds.3_5'UTR|VNN2_uc010kgb.3_Missense_Mutation_p.P109L|VNN2_uc003qdv.3_Missense_Mutation_p.P56L NM_004665 NP_004656 O95498 VNN2_HUMAN Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA. 109 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) GTCTTGACACGGAATCCAGTT 0.418000 50 10 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130415820 130415820 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:130415820C>T uc004ewe.4 - 7 1628 c.1345G>A c.(1345-1347)Gaa>Aaa p.E449K IGSF1_uc004ewd.3_Missense_Mutation_p.E449K|IGSF1_uc022cdv.1_Missense_Mutation_p.E440K|IGSF1_uc004ewf.2_Missense_Mutation_p.E429K NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 449 Ig-like C2-type 5. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 AGAGAAAATTCCAGTACTGGA 0.473000 24 4 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56530724 56530724 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:56530724G>A uc002qmj.3 + 4 582 c.582G>A c.(580-582)atG>atA p.M194I NLRP5_uc002qmi.3_Intron NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 194 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CACAAGCTATGGAACAAGAAG 0.408000 51 9 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52886525 52886525 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:52886525G>A uc001sam.3 - 0 657 c.448C>T c.(448-450)Ctg>Ttg p.L150L NM_005554 NP_005545 P02538 K2C6A_HUMAN Homo sapiens keratin 6A (KRT6A), mRNA. 150 Head. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) TCGATTTGCAGGTTGAGGGGA 0.602000 167 15 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31929122 31929122 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:31929122C>T uc003nyn.1 + 7 1137 c.748C>T c.(748-750)Ccc>Tcc p.P250S RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_Missense_Mutation_p.P92S|SKIV2L_uc011dov.1_Missense_Mutation_p.P57S NM_006929 NP_008860 Q15477 SKIV2_HUMAN Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA. 250 nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 CTGCAGTGCTCCCCTGGCCCG 0.597000 136 19 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24372919 24372919 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:24372919G>A uc002dmf.3 + 3 1885 c.683G>A c.(682-684)aGg>aAg p.R228K NM_006539 NP_006530 O60359 CCG3_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA. 228 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) CCACCCTACAGGTATCGATTC 0.542000 51 4 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62076714 62076714 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:62076714T>A uc002yey.1 - 2 568 c.391A>T c.(391-393)Atc>Ttc p.I131F KCNQ2_uc002yez.1_Missense_Mutation_p.I131F|KCNQ2_uc002yfa.1_Missense_Mutation_p.I131F|KCNQ2_uc002yfb.1_Missense_Mutation_p.I131F|KCNQ2_uc011aax.1_Missense_Mutation_p.I131F|KCNQ2_uc002yfc.1_Missense_Mutation_p.I131F NM_172107 NP_742105 O43526 KCNQ2_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA. 131 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) ATAGTCACGATTTCCTGCAGG 0.657000 77 7 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161953594 161953594 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:161953594G>A uc010pkq.2 - 7 2551 c.2127C>T c.(2125-2127)atC>atT p.I709I OLFML2B_uc001gbt.3_Silent_p.I191I|OLFML2B_uc001gbu.3_Silent_p.I708I NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA. 708 Olfactomedin-like. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GCCTGGGGACGATCTGTGTGT 0.547000 348 39 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28971130 28971130 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:28971130G>A uc002kwr.2 + 6 909 c.774G>A c.(772-774)aaG>aaA p.K258K DSG4_uc002kwq.2_Silent_p.K258K NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 258 Cadherin 2. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GTAGAATCAAGGTTTTAGACG 0.393000 48 3 0 0 1 0 0 IL12RB1 3594 broad.mit.edu 37 19 18191740 18191740 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:18191740C>T uc002nhx.1 - 4 482 c.431G>A c.(430-432)gGg>gAg p.G144E IL12RB1_uc002nhw.1_Missense_Mutation_p.G104E|IL12RB1_uc010xqb.1_Missense_Mutation_p.G104E|IL12RB1_uc002nhy.3_Missense_Mutation_p.G104E NM_005535 NP_005526 P42701 I12R1_HUMAN Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA. 104 Fibronectin type-III 2. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 CACAGACACCCCAGCCTGGTC 0.622000 125 11 0 0 1 0 0 SGCG 6445 broad.mit.edu 37 13 23808758 23808758 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:23808758G>A uc001uom.2 + 2 359 c.204G>A c.(202-204)atG>atA p.M68I SGCG_uc009zzv.2_Missense_Mutation_p.M68I|SGCG_uc009zzw.2_Missense_Mutation_p.M68I NM_000231 NP_000222 Q13326 SGCG_HUMAN Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA. 68 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) AGGCAGGAATGGGCCACTTGT 0.353000 71 6 0 0 1 0 0 LRMP 4033 broad.mit.edu 37 12 25249938 25249938 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:25249938G>A uc001rgh.3 + 13 1795 c.701G>A c.(700-702)cGa>cAa p.R234Q LRMP_uc010sja.2_Missense_Mutation_p.R234Q|LRMP_uc010sjc.2_Missense_Mutation_p.R234Q|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Missense_Mutation_p.R181Q|LRMP_uc010sjd.2_Missense_Mutation_p.R181Q NM_006152 NP_006143 Q12912 LRMP_HUMAN Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA. 290 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) TGTGCAGCACGAGTGGCCAGT 0.413000 65 10 0 0 1 0 0 GPC3 2719 broad.mit.edu 37 X 132670237 132670237 + Missense_Mutation SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:132670237T>G uc010nrn.2 - 8 1924 c.1727A>C c.(1726-1728)cAc>cCc p.H576P GPC3_uc004exe.2_Missense_Mutation_p.H553P|GPC3_uc011mvh.2_Missense_Mutation_p.H537P|GPC3_uc010nro.2_Missense_Mutation_p.H499P NM_001164617 NP_001158089 P51654 GPC3_HUMAN Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA. 553 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) CCCGAGGTTGTGAAAGGTGCT 0.537000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 32 7 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756345 94756345 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:94756345G>A uc001yct.3 - 1 1052 c.586C>T c.(586-588)Cgc>Tgc p.R196C SERPINA10_uc001ycu.4_Missense_Mutation_p.R196C NM_016186 NP_057270 Q9UK55 ZPI_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA. 196 R -> H (in dbSNP:rs2232701). regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) GAGGCATTGCGAAAATTCATA 0.398000 107 12 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166172209 166172209 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:166172209C>T uc002udc.3 + 10 1902 c.1612C>T c.(1612-1614)Cgt>Tgt p.R538C SCN2A_uc002udd.3_Missense_Mutation_p.R538C|SCN2A_uc002ude.3_Missense_Mutation_p.R538C NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 538 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity p.R538C(2) NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AAAAGGTTTCCGTTTTTCCTT 0.338000 65 6 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36752050 36752050 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:36752050C>T uc001cae.4 + 3 443 c.219C>T c.(217-219)ttC>ttT p.F73F THRAP3_uc001caf.4_Silent_p.F73F|THRAP3_uc001cag.1_Silent_p.F73F NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA. 73 Arg-rich.|Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ATCGGGATTTCCGAGGTCACA 0.453000 T USP6 aneurysmal bone cysts 99 16 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70079874 70079874 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:70079874G>A uc003heh.3 - 0 576 c.567C>T c.(565-567)ttC>ttT p.F189F AK124272_uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA. 189 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 AGGAAGGAGGGAAAATCAGTC 0.403000 50 5 0 0 1 0 0 PRKCH 5583 broad.mit.edu 37 14 61919967 61919967 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:61919967C>T uc001xfn.3 + 6 1161 c.856C>T c.(856-858)Cga>Tga p.R286* PRKCH_uc010tsa.2_Nonsense_Mutation_p.R125* NM_006255 NP_006246 P24723 KPCL_HUMAN Homo sapiens protein kinase C, eta (PRKCH), mRNA. 286 intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) TGTGCATATTCGATGTCAAGC 0.448000 90 4 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15794359 15794359 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:15794359G>A uc002nbl.3 + 6 823 c.704G>A c.(703-705)aGa>aAa p.R235K NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GTAGAGAAAAGAAGCCAGCAT 0.542000 92 8 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687621 27687621 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:27687621C>T uc001itu.2 - 3 2024 c.1906G>A c.(1906-1908)Gat>Aat p.D636N NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 636 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 ATGTAGGAATCGTCACTTGCC 0.353000 90 6 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53240001 53240001 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:53240001A>T uc001sbc.1 - 3 800 c.736T>A c.(736-738)Ttg>Atg p.L246M NM_173352 NP_775487 Q8N1N4 K2C78_HUMAN Homo sapiens keratin 78 (KRT78), mRNA. 246 Coil 1B.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 AGATGCTTCAAGAAGTAGAGG 0.547000 64 4 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34011769 34011769 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:34011769G>A uc001bxm.1 - 56 9145 c.8968C>T c.(8968-8970)Cgt>Tgt p.R2990C CSMD2_uc001bxn.1_Missense_Mutation_p.R2846C NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2963 Sushi 22. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCCCCCAAACGGATGCCATGA 0.567000 75 8 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90072360 90072360 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:90072360C>T uc003kju.3 + 60 12590 c.12494C>T c.(12493-12495)cCc>cTc p.P4165L GPR98_uc003kjt.3_Missense_Mutation_p.P1871L NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 4165 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding p.E4164D(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATTGGGGAACCCTCAGCAAAA 0.393000 48 4 0 0 1 0 0 OR5AN1 390195 broad.mit.edu 37 11 59132414 59132414 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:59132414T>C uc010rks.2 + 0 483 c.483T>C c.(481-483)atT>atC p.I161I NM_001004729 NP_001004729 Q8NGI8 O5AN1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA. 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 21 TATTCCAAATTGGTGCTTTGC 0.463000 82 7 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179701646 179701646 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:179701646C>T uc002une.2 - 22 4418 c.4300G>A c.(4300-4302)Gga>Aga p.G1434R CCDC141_uc002unf.1_Missense_Mutation_p.G913R NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 859 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TCTGGAAATCCTGTTACTTCA 0.438000 31 4 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130926783 130926783 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:130926783C>T uc001uil.2 - 7 1279 c.1063G>A c.(1063-1065)Gag>Aag p.E355K RIMBP2_uc001uim.3_Missense_Mutation_p.E263K NM_015347 NP_056162 O15034 RIMB2_HUMAN Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA. 355 Fibronectin type-III 1. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TTGAGCTTCTCGATGAGGGCT 0.612000 91 8 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 7 38305122 38305122 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:38305122C>T uc003tge.1 - 4 962 c.585G>A c.(583-585)acG>acA p.T195T ARPP21_uc022aby.1_5'UTR|ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_5'UTR|ARPP21_uc003tgc.1_5'UTR|ARPP21_uc003tgd.1_5'UTR|ARPP21_uc010kxi.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript Q9UBL0 ARP21_HUMAN Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 703 R3H. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 ATCCCAGAATCGTGTTGCTCT 0.418000 60 14 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059176 248059176 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:248059176C>T uc010pzb.2 + 0 288 c.288C>T c.(286-288)ggC>ggT p.G96G OR2W3_uc001idp.1_Silent_p.G96G NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA. 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCTACATGGGCTGTGCCATCC 0.572000 104 6 0 0 1 0 0 TXNRD2 10587 broad.mit.edu 37 22 19918599 19918599 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:19918599G>A uc021wlj.1 - 1 159 c.126C>T c.(124-126)ctC>ctT p.L42L TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Silent_p.L41L|TXNRD2_uc010grv.1_Silent_p.L42L|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqs.2_Silent_p.L10L NM_006440 Q9NNW7 TRXR2_HUMAN Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA. 42 cell redox homeostasis|response to oxygen radical mitochondrion NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2) 30 Colorectal(54;0.0993) CGACCACCAGGAGATCATAGT 0.537000 157 17 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121613330 121613330 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:121613330C>T uc003eep.2 + 0 160 c.7C>T c.(7-9)Cct>Tct p.P3S SLC15A2_uc011bjn.1_Missense_Mutation_p.P3S NM_021082 NP_066568 Q16348 S15A2_HUMAN Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA. 3 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding p.P3A(2) NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) AGCCATGAATCCTTTCCAGAA 0.493000 94 9 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211438075 211438075 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:211438075C>T uc010fur.3 + 2 280 c.198C>T c.(196-198)tcC>tcT p.S66S CPS1_uc002vee.4_Silent_p.S60S NM_001122633 NP_001116105 P31327 CPSM_HUMAN Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 60 Anthranilate phosphoribosyltransferase homolog. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AAGGTTACTCCTTTGGCCATC 0.418000 119 12 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87641241 87641241 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:87641241G>A uc003ydx.3 - 11 1434 c.1386C>T c.(1384-1386)acC>acT p.T462T CNGB3_uc010maj.3_Silent_p.T324T NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 462 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 TGTAGGCAATGGTGTCATCCA 0.453000 185 17 0 0 1 0 0 OR4K14 122740 broad.mit.edu 37 14 20482780 20482780 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:20482780C>T uc010tky.2 - 0 573 c.573G>A c.(571-573)atG>atA p.M191I NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA. 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) CATAGGTGTCCATGCAGGCAA 0.483000 82 4 0 0 1 0 0 TCEA3 6920 broad.mit.edu 37 1 23724285 23724285 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:23724285C>T uc021oig.1 - 6 742 c.607_splice c.e6+1 p.D203_splice TCEA3_uc021oih.1_Splice_Site_p.D182_splice NM_003196 NP_003187 O75764 TCEA3_HUMAN Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA. 203 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent nucleus DNA binding|translation elongation factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198) GCTCTCTCACCGTCCGCCTTC 0.572000 74 4 0 0 1 0 0 GPT2 84706 broad.mit.edu 37 16 46956287 46956287 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:46956287C>T uc002eel.3 + 8 1265 c.1171C>T c.(1171-1173)Ccc>Tcc p.P391S GPT2_uc002eem.3_Missense_Mutation_p.P291S|GPT2_uc002een.3_5'Flank NM_133443 NP_001135938 Q8TD30 ALAT2_HUMAN Homo sapiens glutamic pyruvate transaminase (alanine aminotransferase) 2 (GPT2), transcript variant 1, mRNA. 391 2-oxoglutarate metabolic process|L-alanine metabolic process|cellular amino acid biosynthetic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding p.P391L(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TGTCGTGAACCCCCCGGTGGC 0.637000 147 7 0 0 1 0 0 GALNTL1 57452 broad.mit.edu 37 14 69805411 69805411 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:69805411C>T uc001xlb.2 + 9 1338 c.1011C>T c.(1009-1011)atC>atT p.I337I GALNTL1_uc001xla.2_Silent_p.I337I|GALNTL1_uc010aqu.2_Silent_p.I337I NM_020692 NP_065743 Q8N428 GLTL1_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA. 337 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2) 24 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) GTCTGGAGATCGTCCCCTGCA 0.582000 146 5 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50870692 50870692 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:50870692C>T uc001jhz.2 + 14 1993 c.1840_splice c.e14-1 p.A614_splice CHAT_uc001jhv.1_Splice_Site_p.A496_splice|CHAT_uc001jhx.1_Splice_Site_p.A496_splice|CHAT_uc001jhy.1_Splice_Site_p.A496_splice|CHAT_uc001jia.2_Splice_Site_p.A532_splice|CHAT_uc010qgs.1_Splice_Site_p.A496_splice NM_020549 NP_066266 P28329 CLAT_HUMAN Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA. 614 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) ACTACACAGGCCATAACAGGG 0.572000 120 13 0 0 1 0 0 CHRNA2 1135 broad.mit.edu 37 8 27319169 27319169 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:27319169G>A uc010lur.3 - 6 2176 c.1567C>T c.(1567-1569)Ccg>Tcg p.P523S CHRNA2_uc011lal.2_Missense_Mutation_p.P508S|CHRNA2_uc010lus.3_Missense_Mutation_p.P325S NM_000742 NP_000733 Q15822 ACHA2_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA. 523 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) GCTAGGAACGGAGGCAGAAAG 0.572000 109 12 0 0 1 0 0 ITGA1 3672 broad.mit.edu 37 5 52145262 52145262 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:52145262C>T uc003jou.3 + 1 539 c.125C>T c.(124-126)cCg>cTg p.P42L ITGA1_uc003jov.3_Non-coding_Transcript NM_181501 NP_852478 P56199 ITA1_HUMAN Homo sapiens integrin, alpha 1 (ITGA1), mRNA. 42 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) TTCAGCGGCCCGGTGGAAGAC 0.353000 45 3 0 0 1 0 0 IQCD 115811 broad.mit.edu 37 12 113633433 113633433 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:113633433C>T uc001tuu.3 - 2 1163 c.991G>A c.(991-993)Gac>Aac p.D331N NM_138451 NP_612460 Q96DY2 IQCD_HUMAN Homo sapiens IQ motif containing D (IQCD), mRNA. 0 endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 ttctccttgtcctttgctttg 0.592000 100 10 0 0 1 0 0 KCNC2 3747 broad.mit.edu 37 12 75444719 75444719 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:75444719G>A uc001sxg.1 - 2 1610 c.1066C>T c.(1066-1068)Ctg>Ttg p.L356L KCNC2_uc009zry.3_Silent_p.L356L|KCNC2_uc001sxe.3_Silent_p.L356L|KCNC2_uc001sxf.3_Silent_p.L356L|KCNC2_uc010stw.1_Silent_p.L356L NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA. 356 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 AAAATTCTCAGGATCCTCACA 0.458000 48 4 0 0 1 0 0 MYF6 4618 broad.mit.edu 37 12 81102690 81102690 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:81102690C>T uc001szf.2 + 2 771 c.680C>T c.(679-681)tCc>tTc p.S227F NM_002469 NP_002460 P23409 MYF6_HUMAN Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA. 227 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 GACAGTATTTCCTCGGAGGAA 0.527000 65 7 0 0 1 0 0 MLL2 8085 broad.mit.edu 37 12 49445206 49445206 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:49445206G>A uc001rta.4 - 9 2260 c.2260C>T c.(2260-2262)Ccc>Tcc p.P754S NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 754 Pro-rich. Missing (in Ref. 1; AAC51734). chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 TCAGGCCGGGGGGACAGGTGC 0.692000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 39 3 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26917712 26917712 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:26917712C>T uc001wqa.3 - 5 1397 c.611G>A c.(610-612)gGa>gAa p.G204E NOVA1_uc001wpy.3_Missense_Mutation_p.G326E|NOVA1_uc001wpz.3_Missense_Mutation_p.G302E NM_002515 NP_002506 P51513 NOVA1_HUMAN Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA. 329 KH 2. RNA splicing|locomotory behavior|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) GAGATTATATCCATAGCTGGC 0.522000 33 4 0 0 1 0 0 OR3A4P 390756 broad.mit.edu 37 17 3214566 3214566 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:3214566C>T uc002fvi.2 + 0 1028 c.962C>T c.(961-963)tCc>tTc p.S321F Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA. GTGCAGAGTTCCCTATGCTGC 0.572000 86 6 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 22078591 22078591 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:22078591T>C uc010iuc.2 - 1 653 c.195A>G c.(193-195)gaA>gaG p.E65E CDH12_uc011cno.1_Silent_p.E65E|CDH12_uc003jgk.2_Silent_p.E65E NM_004061 NP_004052 P55289 CAD12_HUMAN Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA. 65 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 CCACGTATTCTTCCAGCACAA 0.448000 HNSCC(59;0.17) 62 4 0 0 1 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148744081 148744081 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:148744081G>A uc003ilf.3 + 2 285 c.285G>A c.(283-285)aaG>aaA p.K95K ARHGAP10_uc003ile.1_Silent_p.K95K NM_024605 NP_078881 A1A4S6 RHG10_HUMAN Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA. 95 BAR. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane SH3 domain binding|cytoskeletal adaptor activity autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) ATTTTTTGAAGAATCTGGAGG 0.363000 44 4 0 0 1 0 0 ACTL9 284382 broad.mit.edu 37 19 8807924 8807924 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:8807924C>T uc002mkl.2 - 0 1249 c.1128G>A c.(1126-1128)agG>agA p.R376R NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN Homo sapiens actin-like 9 (ACTL9), mRNA. 376 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 CGGAGAAATTCCTGGTGGGCT 0.667000 40 3 0 0 1 0 0 ECM1 1893 broad.mit.edu 37 1 150482158 150482158 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:150482158C>T uc001euv.3 + 2 342 c.143C>T c.(142-144)tCc>tTc p.S48F ECM1_uc010pcf.2_5'UTR|ECM1_uc010pce.2_5'UTR|ECM1_uc001eus.3_Missense_Mutation_p.S48F|ECM1_uc001eut.3_Missense_Mutation_p.S48F|ECM1_uc009wlu.3_5'UTR NM_001202858 NP_001189787 Q16610 ECM1_HUMAN Homo sapiens extracellular matrix protein 1 (ECM1), transcript variant 3, mRNA. 48 angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1) 22 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCTCCCCCCTCCCCACCCCTA 0.597000 221 24 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12576270 12576270 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:12576270G>A uc002mtv.4 - 3 627 c.466C>T c.(466-468)Cga>Tga p.R156* ZNF709_uc002mtw.4_Nonsense_Mutation_p.R124*|ZNF709_uc002mtx.4_Nonsense_Mutation_p.R156* NM_152601 NP_689814 Q8N972 ZN709_HUMAN Homo sapiens zinc finger protein 709 (ZNF709), mRNA. 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 TCATGTATTCGAAATGAACTT 0.353000 94 10 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77775789 77775789 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:77775789G>A uc003yau.2 + 10 10226 c.9839G>A c.(9838-9840)gGa>gAa p.G3280E NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 3231 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G3264V(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGCTCCCTGGAACAGTGCAG 0.527000 HNSCC(33;0.089) 73 7 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117647417 117647417 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:117647417C>T uc003pxp.1 - 32 5726 c.5527G>A c.(5527-5529)Gga>Aga p.G1843R ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 1843 Fibronectin type-III 9. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TCACTGATTCCACTATATTCA 0.353000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 92 14 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45726195 45726195 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:45726195C>T uc003tne.4 + 13 2395 c.2377C>T c.(2377-2379)Ctc>Ttc p.L793F NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 793 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GGCCATCCTGCTCTTCTCCTG 0.627000 73 12 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32279739 32279739 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:32279739G>A uc001bts.1 - 1 1254 c.1196C>T c.(1195-1197)tCc>tTc p.S399F SPOCD1_uc001btu.3_Missense_Mutation_p.S399F|SPOCD1_uc001btv.3_Intron NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA. 399 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) ATCCAGGGAGGAGCTGAGGCC 0.632000 23 5 0 0 1 0 0 ETV3 2117 broad.mit.edu 37 1 157103991 157103991 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:157103991T>C uc001fqr.2 - 3 602 c.313A>G c.(313-315)Aaa>Gaa p.K105E ETV3_uc001fqt.3_Missense_Mutation_p.K105E NM_001145312 NP_001138784 P41162 ETV3_HUMAN Homo sapiens ets variant 3 (ETV3), transcript variant 1, mRNA. 105 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 9 Hepatocellular(266;0.158) Prostate(1639;0.174) CCTTTTGTTTTATGAAGGATC 0.368000 34 5 0 0 1 0 0 NOX5 79400 broad.mit.edu 37 15 69329397 69329397 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:69329397C>T uc002ars.2 + 7 1259 c.1218C>T c.(1216-1218)ctC>ctT p.L406L MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.L360L|NOX5_uc002arp.2_Silent_p.L388L|NOX5_uc010bid.2_Silent_p.L371L|NOX5_uc010bie.2_Silent_p.L206L|NOX5_uc002arr.2_Silent_p.L378L|NOX5_uc010bif.2_Non-coding_Transcript NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 406 Ferric oxidoreductase. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 TGTCCTACCTCCTCGTGTGGC 0.572000 247 22 0 0 1 0 0 CYP3A43 64816 broad.mit.edu 37 7 99436796 99436796 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:99436796G>A uc003ury.1 + 3 321 c.218_splice c.e3+1 p.G73_splice CYP3A43_uc003urx.1_Splice_Site_p.G73_splice|CYP3A43_uc003urz.1_Splice_Site_p.G73_splice|CYP3A43_uc003usa.1_Splice_Site|CYP3A43_uc010lgi.1_Splice_Site_p.A114_splice|CYP3A43_uc003usb.1_Splice_Site NM_022820 NP_073731 Q9HB55 CP343_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA. 73 YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) AAATGTGGGGGTGAGTATTCT 0.368000 113 6 0 0 1 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184587497 184587497 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:184587497G>A uc003ivx.3 + 2 494 c.292G>A c.(292-294)Gtt>Att p.V98I TRAPPC11_uc003ivw.3_Missense_Mutation_p.V98I|TRAPPC11_uc010isc.3_Intron NM_021942 NP_068761 Q7Z392 CD041_HUMAN Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA. 98 AGCCCTGGTGGTTGTGTTCTA 0.463000 105 7 0 0 1 0 0 DHX35 60625 broad.mit.edu 37 20 37634983 37634983 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:37634983T>C uc002xjh.3 + 11 1236 c.1206T>C c.(1204-1206)tgT>tgC p.C402C DHX35_uc010zwa.2_Silent_p.C247C|DHX35_uc010zwc.2_Silent_p.C371C|DHX35_uc010zwb.2_Silent_p.C247C NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA. 402 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) CGGGAAAATGTTATCGCCTTT 0.488000 94 13 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53186064 53186064 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:53186064G>A uc001say.3 - 4 1213 c.1147C>T c.(1147-1149)Cag>Tag p.Q383* NM_057088 NP_476429 P12035 K2C3_HUMAN Homo sapiens keratin 3 (KRT3), mRNA. 383 Coil 2.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 TTGCTTCTCTGAGCGATATCC 0.537000 37 6 0 0 1 0 0 C7orf63 79846 broad.mit.edu 37 7 89939461 89939461 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:89939461C>T uc010lep.3 + 22 2986 c.2735C>T c.(2734-2736)gCt>gTt p.A912V C7orf63_uc011khj.2_Missense_Mutation_p.A894V|C7orf63_uc011khk.2_Missense_Mutation_p.A428V NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA. 912 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 ACGGATATTGCTCTTAAAAAA 0.433000 90 6 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131671776 131671776 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:131671776C>T uc021qav.1 - 7 780 c.679G>A c.(679-681)Ggg>Agg p.G227R EBF3_uc001lki.2_Missense_Mutation_p.G241R NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN Homo sapiens early B-cell factor 3 (EBF3), mRNA. 241 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding p.A227A(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GCCCGCCTCCCGTGTTTGGAA 0.507000 69 6 0 0 1 0 0 ACAA2 10449 broad.mit.edu 37 18 47317850 47317850 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:47317850G>A uc002ldw.4 - 6 1270 c.873C>T c.(871-873)atC>atT p.I291I NM_006111 NP_006102 P42765 THIM_HUMAN Homo sapiens acetyl-CoA acyltransferase 2 (ACAA2), nuclear gene encoding mitochondrial protein, mRNA. 291 anti-apoptosis|cholesterol biosynthetic process acetyl-CoA C-acyltransferase activity|protein binding large_intestine(2)|lung(7)|ovary(1) 10 CAATACCCATGATAGAGGGAT 0.388000 94 5 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16237594 16237594 + Splice_Site SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:16237594A>G uc001axk.1 + 5 1247 c.1043_splice c.e5-2 p.D348_splice SPEN_uc010obp.1_Splice_Site_p.D307_splice NM_015001 NP_055816 Q96T58 MINT_HUMAN Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA. 348 RRM 2. Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent nucleus RNA binding|nucleotide binding|protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TTGGGAATTTAGATACAAGCC 0.303000 25 4 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92408619 92408619 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:92408619G>A uc010tif.2 + 4 1591 c.1225G>A c.(1225-1227)Gaa>Aaa p.E409K NM_004466 NP_004457 P78333 GPC5_HUMAN Homo sapiens glypican 5 (GPC5), mRNA. 409 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TTGTGCTAATGAATTAGCTGC 0.373000 64 6 0 0 1 0 0 CASP1 834 broad.mit.edu 37 11 104897586 104897586 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:104897586C>T uc001pim.4 - 7 1099 c.1099G>A c.(1099-1101)Gag>Aag p.E367K CASP1_uc001pig.3_Missense_Mutation_p.E274K|CASP1_uc021qpq.1_Missense_Mutation_p.E346K|CASP1_uc021qpr.1_Missense_Mutation_p.E226K|CASP1_uc021qps.1_Missense_Mutation_p.E51K|CASP1_uc021qpp.1_Missense_Mutation_p.E367K|CASP1_uc021qpt.1_Missense_Mutation_p.E274K|CASP1_uc010rve.2_Missense_Mutation_p.E367K|CASP1_uc010rvf.2_Missense_Mutation_p.E274K|CASP1_uc010rvg.2_Missense_Mutation_p.E346K|CASP1_uc010rvh.2_Missense_Mutation_p.E226K|CASP1_uc010rvi.2_Missense_Mutation_p.E51K|CASP1_uc009yxi.3_Missense_Mutation_p.E346K|CASP1_uc021qpu.1_Missense_Mutation_p.E274K|CASP1_uc021qpv.1_Missense_Mutation_p.E346K|CASP1_uc021qpw.1_Missense_Mutation_p.E226K|CASP1_uc021qpx.1_Missense_Mutation_p.E51K|CASP1_uc010rvj.2_Missense_Mutation_p.E367K|CASP1_uc009yxj.3_Missense_Mutation_p.E212K|CASP1_uc010rvk.2_3'UTR NM_033292 NP_150634 P29466 CASP1_HUMAN Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA. 367 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) AAAATTTCCTCCACATCACAG 0.408000 65 10 0 0 1 0 0 GDA 9615 broad.mit.edu 37 9 74828873 74828873 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:74828873G>A uc004air.3 + 4 753 c.544G>A c.(544-546)Gag>Aag p.E182K GDA_uc011lse.2_Missense_Mutation_p.E108K|GDA_uc004aiq.3_Missense_Mutation_p.E182K|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.E108K|GDA_uc004ais.3_Missense_Mutation_p.E140K|GDA_uc004ait.1_Missense_Mutation_p.E108K NM_001242505 NP_001229434 Q9Y2T3 GUAD_HUMAN Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA. 182 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) AGAATACAAGGAGACCACTGA 0.398000 83 12 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179430031 179430031 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:179430031T>A uc021vsy.1 - 274 73349 c.73124A>T c.(73123-73125)aAc>aTc p.N24375I MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.N18070I|TTN_uc021vta.1_Missense_Mutation_p.N18003I|TTN_uc021vtb.1_Missense_Mutation_p.N17878I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 25302 Fibronectin type-III 77. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.I24375M(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCATCTTTGTTACCTTCTTT 0.398000 46 8 0 0 1 0 0 KANK2 25959 broad.mit.edu 37 19 11287479 11287479 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:11287479G>A uc002mqm.3 - 4 1638 c.1559C>T c.(1558-1560)tCc>tTc p.S520F KANK2_uc021upe.1_Missense_Mutation_p.S512F|KANK2_uc002mqo.4_Missense_Mutation_p.S512F|KANK2_uc002mqp.1_Missense_Mutation_p.S321F NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA. 512 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GGAGTCCTCGGATGACGACTC 0.607000 61 8 0 0 1 0 0 SLC2A5 6518 broad.mit.edu 37 1 9097674 9097674 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:9097674C>T uc001apo.3 - 11 1769 c.1477G>A c.(1477-1479)Gag>Aag p.E493K SLC2A5_uc010nzy.2_Missense_Mutation_p.E434K|SLC2A5_uc010nzz.2_Missense_Mutation_p.E378K|SLC2A5_uc010oaa.2_Missense_Mutation_p.E449K NM_003039 NP_003030 P22732 GTR5_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA. 493 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GGTGGAAGCTCTTTCAGTTCC 0.498000 182 25 0 0 1 0 0 XCR1 2829 broad.mit.edu 37 3 46062858 46062858 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:46062858G>A uc003cpe.3 - 2 806 c.582C>T c.(580-582)ttC>ttT p.F194F AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Silent_p.F194F|XCR1_uc021wwx.1_Silent_p.F194F NM_005283 NP_005274 P46094 XCR1_HUMAN Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA. 194 G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response integral to plasma membrane chemokine receptor activity NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) GGGACAGCAGGAAGAAGAGGT 0.567000 53 4 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142573242 142573242 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142573242G>A uc003wbx.2 - 7 1330 c.1101C>T c.(1099-1101)ctC>ctT p.L367L TRPV6_uc003wbw.1_Silent_p.L153L|TRPV6_uc010lou.1_Silent_p.L238L NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA. 367 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) TCTGCTGTAAGAGGGTGTTGT 0.562000 97 22 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21174039 21174039 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:21174039G>A uc002zsz.4 - 5 766 c.505C>T c.(505-507)Cga>Tga p.R169* PI4KA_uc010gsq.2_Nonsense_Mutation_p.R255* NM_058004 NP_477352 P42356 PI4KA_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA. 169 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GAACGCCTTCGAACACCTTCA 0.517000 188 18 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248637009 248637009 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:248637009C>T uc001iel.1 + 0 358 c.358C>T c.(358-360)Ctg>Ttg p.L120L NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA. 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGTTTTCCTCCTGGCTGCCAT 0.567000 45 3 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36874065 36874065 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:36874065A>T uc003cgj.3 - 20 7125 c.6877T>A c.(6877-6879)Ttc>Atc p.F2293I NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2293 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GAGAGAAGGAAAGCTTGCATG 0.493000 34 4 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 33999493 33999493 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:33999493G>A uc001bxm.1 - 62 10071 c.9894C>T c.(9892-9894)gtC>gtT p.V3298V CSMD2_uc001bxn.1_Silent_p.V3154V NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 3154 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AACGGAAGAGGACTGTGCTTC 0.567000 43 7 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186545077 186545077 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:186545077C>T uc003iyg.3 - 12 1868 c.1836G>A c.(1834-1836)acG>acA p.T612T SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.T598T|SORBS2_uc003iyl.3_Silent_p.T498T|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.T402T|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA. 498 Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.T498T(1) endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GCACCTCCTCCGTGGAGCACT 0.572000 99 7 0 0 1 0 0 OR14J1 442191 broad.mit.edu 37 6 29274811 29274811 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:29274811G>A uc011dln.2 + 0 345 c.345G>A c.(343-345)gtG>gtA p.V115V NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA. 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 TTCTCACAGTGATGTCTTATG 0.448000 82 6 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123842714 123842714 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:123842714C>T uc001lfv.3 + 3 1059 c.699C>T c.(697-699)ggC>ggT p.G233G TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.G233G|TACC2_uc010qtv.2_Silent_p.G233G NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 233 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTGCAGGTGGCTTTCCCCCTG 0.627000 36 6 0 0 1 0 0 PUS1 80324 broad.mit.edu 37 12 132426289 132426289 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:132426289C>T uc001ujf.3 + 4 1452 c.997C>T c.(997-999)Ctg>Ttg p.L333L PUS1_uc001ujg.3_Silent_p.L305L|PUS1_uc001ujh.3_Silent_p.L305L|PUS1_uc001uji.3_Silent_p.L280L NM_025215 NP_001002020 Q9Y606 TRUA_HUMAN Homo sapiens pseudouridylate synthase 1 (PUS1), transcript variant 1, mRNA. 333 mitochondrion RNA binding|pseudouridine synthase activity|pseudouridylate synthase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 11 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07) CGGACTCGGCCTGGTCCTGGA 0.642000 55 6 0 0 1 0 0 LAMP5 24141 broad.mit.edu 37 20 9510461 9510461 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:9510461G>A uc002wni.2 + 5 1332 c.837G>A c.(835-837)atG>atA p.M279I LAMP5_uc010zrc.2_Missense_Mutation_p.M235I NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA. 279 integral to membrane ATAAGCACATGGGCTAGAGGC 0.522000 88 9 0 0 1 0 0 SF3B2 10992 broad.mit.edu 37 11 65824770 65824770 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:65824770C>T uc001ogy.1 + 6 741 c.701C>T c.(700-702)cCt>cTt p.P234L NM_006842 NP_006833 Q13435 SF3B2_HUMAN Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA. 234 interspecies interaction between organisms U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 GGCCCCACTCCTACAGTTTTG 0.537000 203 14 0 0 1 0 0 KRT82 3888 broad.mit.edu 37 12 52797502 52797502 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:52797502C>T uc001sai.1 - 1 718 c.603G>A c.(601-603)ctG>ctA p.L201L NM_033033 NP_149022 Q9NSB4 KRT82_HUMAN Homo sapiens keratin 82 (KRT82), mRNA. 201 Coil 1B.|Rod. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) tgtagccctccagtgcAGCCT 0.577000 126 15 0 0 1 0 0 DDB1 1642 broad.mit.edu 37 11 61070607 61070607 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:61070607G>A uc001nrc.4 - 22 3079 c.2853C>T c.(2851-2853)ccC>ccT p.P951P DDB1_uc010rle.1_Silent_p.P262P|DDB1_uc010rlf.1_Silent_p.P951P NM_001923 NP_001914 Q16531 DDB1_HUMAN Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA. 951 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 TCATCCAGTTGGGATTAAAGT 0.413000 Nucleotide excision repair (NER) 202 25 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124358371 124358371 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:124358371C>T uc001lgk.1 + 25 3144 c.3038C>T c.(3037-3039)tCc>tTc p.S1013F DMBT1_uc001lgl.1_Missense_Mutation_p.S1003F|DMBT1_uc001lgm.1_Missense_Mutation_p.S514F|DMBT1_uc021qaf.1_Missense_Mutation_p.S1013F|DMBT1_uc021qag.1_Missense_Mutation_p.S1003F|DMBT1_uc021qah.1_Missense_Mutation_p.S514F|DMBT1_uc009xzz.1_Missense_Mutation_p.S1013F|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1013 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TACCAAGGCTCCTGGGGCACC 0.587000 522 49 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127797356 127797356 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:127797356G>A uc003qbd.3 - 5 2680 c.1815C>T c.(1813-1815)atC>atT p.I605I KIAA0408_uc003qbc.3_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA. 605 integral to membrane CCAGTTCGACGATTTTCCTGC 0.607000 240 12 0 0 1 0 0 CXCR1 3577 broad.mit.edu 37 2 219029119 219029119 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:219029119C>T uc021vwq.1 - 0 816 c.816G>A c.(814-816)gtG>gtA p.V272V CXCR1_uc002vhc.3_Silent_p.V272V|HV303425_uc021vwr.1_5'Flank NM_000634 NP_000625 P25024 CXCR1_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA. 272 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 TCTCCTGGATCACCTGGGTCC 0.582000 80 6 0 0 1 0 0 ZNF512 84450 broad.mit.edu 37 2 27820991 27820991 + Missense_Mutation SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:27820991T>G uc002rla.3 + 2 234 c.147T>G c.(145-147)gaT>gaG p.D49E ZNF512_uc010ylw.2_Missense_Mutation_p.D48E|ZNF512_uc002rlb.3_5'UTR|ZNF512_uc010ylx.2_5'UTR|ZNF512_uc002rlc.3_5'UTR|ZNF512_uc010ylv.2_5'UTR|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_5'UTR NM_032434 NP_115810 Q96ME7 ZN512_HUMAN Homo sapiens zinc finger protein 512 (ZNF512), mRNA. 49 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) TCCCTCATGATGACTCCTTAA 0.408000 166 7 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196714990 196714990 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:196714990G>A uc001gtj.4 + 20 3594 c.3354G>A c.(3352-3354)ggG>ggA p.G1118G CFH_uc021pgt.1_Intron NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 1118 Sushi 19. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTGACAATGGGGACATTACTT 0.393000 124 5 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6125276 6125276 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:6125276C>T uc001qnn.1 - 30 5684 c.5434G>A c.(5434-5436)Gct>Act p.A1812T VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 1812 VWFA 3; main binding site for collagens type I and III. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GCGGCATCAGCTGCTGCATCC 0.527000 55 4 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9090993 9090993 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:9090993C>T uc001mhi.2 - 4 642 c.567G>A c.(565-567)aaG>aaA p.K189K SCUBE2_uc001mhj.2_Silent_p.K189K NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA. 189 EGF-like 4 (Potential). extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) TTGGGGCCTCCTTGCAGATGT 0.557000 142 13 0 0 1 0 0 GALNTL4 374378 broad.mit.edu 37 11 11354310 11354311 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:11354310_11354311GG>AA uc001mjo.2 - 7 1767_1768 c.1346_1347CC>TT c.(1345-1347)acc>aTT p.T449I NM_198516 NP_940918 Q6P9A2 GLTL4_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA. 449 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 all cancers(16;3.67e-05)|Epithelial(150;0.000184) ACCACCGGAAGGTCTTGCACTG 0.545000 84 10 0 0 1 0 0 DNAJB13 374407 broad.mit.edu 37 11 73680366 73680366 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:73680366C>T uc001ouo.3 + 7 1548 c.797_splice c.e7+1 p.H266_splice NM_153614 NP_705842 P59910 DJB13_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA. 266 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding large_intestine(3)|lung(2) 5 Breast(11;7.42e-05) TGACATCATCCAGTGAGTCCA 0.567000 92 12 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64595227 64595227 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:64595227G>A uc001obs.4 - 30 3996 c.3996C>T c.(3994-3996)ttC>ttT p.F1332F NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA. 1332 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 AGTTCTCGCTGAACACTGTCA 0.627000 94 8 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518262 108518262 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:108518262G>A uc001vql.3 - 0 1199 c.683C>T c.(682-684)tCc>tTc p.S228F NM_001080396 NP_001073865 B1AL88 F155A_HUMAN Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA. 228 integral to membrane binding p.S228A(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 AAGTGTGTAGGAATTACAAAA 0.567000 172 12 0 0 1 0 0 SDAD1 55153 broad.mit.edu 37 4 76879080 76879080 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:76879080T>C uc003hje.4 - 17 1617 c.1498A>G c.(1498-1500)Acc>Gcc p.T500A SDAD1_uc003hjf.4_Missense_Mutation_p.T403A|SDAD1_uc011cbr.2_Missense_Mutation_p.T463A NM_018115 NP_060585 Q9NVU7 SDA1_HUMAN Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA. 500 protein transport|ribosomal large subunit biogenesis nucleolus protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CTGAGACTGGTACTTTCCCAT 0.408000 166 18 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7324273 7324273 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:7324273T>A uc001mfe.3 + 1 386 c.149T>A c.(148-150)aTc>aAc p.I50N SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript NM_175733 NP_783860 Q86SS6 SYT9_HUMAN Homo sapiens synaptotagmin IX (SYT9), mRNA. 50 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.I50I(1) NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TTTGCAGATATCTCAGTGAGC 0.542000 105 5 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55269012 55269012 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:55269012C>T uc003tqk.3 + 24 3324 c.3078C>T c.(3076-3078)agC>agT p.S1026S EGFR_uc022adm.1_Silent_p.S1026S|EGFR_uc010kzg.2_Silent_p.S981S|EGFR_uc022adn.1_Silent_p.S981S|EGFR_uc011kco.2_Silent_p.S973S NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 1026 Ser-rich. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCTTCAGCAGCCCCTCCACGT 0.517000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 126 11 0 0 1 0 0 PGM5 5239 broad.mit.edu 37 9 71006540 71006540 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:71006540G>A uc004agr.3 + 4 1017 c.788G>A c.(787-789)gGa>gAa p.G263E NM_021965 NP_068800 Q15124 PGM5_HUMAN Homo sapiens phosphoglucomutase 5 (PGM5), mRNA. 263 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 GAAGACTTTGGAGGGCAGCAC 0.473000 48 7 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57591086 57591086 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:57591086G>A uc001snd.3 + 56 9547 c.9081G>A c.(9079-9081)gaG>gaA p.E3027E NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 3027 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTGCAGACGAGGAACCGTTTC 0.592000 285 17 0 0 1 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155920664 155920664 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:155920664G>A uc001fmu.2 - 23 3046 c.2791C>T c.(2791-2793)Ctc>Ttc p.L931F ARHGEF2_uc001fmq.2_Missense_Mutation_p.L125F|ARHGEF2_uc001fmr.2_Missense_Mutation_p.L859F|ARHGEF2_uc001fms.2_Missense_Mutation_p.L886F|ARHGEF2_uc001fmt.2_Missense_Mutation_p.L887F NM_004723 NP_004714 Q92974 ARHG2_HUMAN Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA. 887 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CCTGCGGGGAGGCTGCGCCGC 0.672000 131 6 0 0 1 0 0 FOXD4L3 286380 broad.mit.edu 37 9 70918873 70918873 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:70918873G>A uc004agm.1 + 0 1091 c.1006G>A c.(1006-1008)Gag>Aag p.E336K NM_199135 NP_954586 Q6VB84 FX4L3_HUMAN Homo sapiens forkhead box D4-like 3 (FOXD4L3), mRNA. 336 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18) GGGGTCAGGGGAGCGGGTACA 0.627000 284 23 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125530445 125530445 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:125530445C>T uc010flu.3 + 16 2967 c.2603C>T c.(2602-2604)tCt>tTt p.S868F CNTNAP5_uc002tno.3_Missense_Mutation_p.S867F NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 867 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CAGTCTCCTTCTCTTCTGAAT 0.527000 67 4 0 0 1 0 0 KRTAP17-1 83902 broad.mit.edu 37 17 39471596 39471596 + Missense_Mutation SNP C T T rs76002044 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:39471596C>T uc002hwj.3 - 0 352 c.307G>A c.(307-309)Gac>Aac p.D103N NM_031964 NP_114170 Q9BYP8 KR171_HUMAN Homo sapiens keratin associated protein 17-1 (KRTAP17-1), mRNA. 103 intermediate filament haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) CATTTTGTGTCGCATATAGGT 0.612000 47 5 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28935272 28935272 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:28935272G>A uc002kwp.3 + 14 3325 c.3113G>A c.(3112-3114)cGa>cAa p.R1038Q DSG1_uc010xbp.2_Missense_Mutation_p.R397Q NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 1038 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GCTCGAAGTCGAATCACAAAG 0.478000 65 5 0 0 1 0 0 OR13D1 286365 broad.mit.edu 37 9 107457101 107457101 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:107457101G>A uc011lvs.2 + 0 399 c.399G>A c.(397-399)atG>atA p.M133I NM_001004484 NP_001004484 Q8NGV5 O13D1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA. 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 CTCTGCAGATGGTTGTGTCCC 0.483000 154 20 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3239851 3239851 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:3239851G>A uc004crg.4 - 4 4032 c.3875C>T c.(3874-3876)tCc>tTc p.S1292F NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1292 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTAATCTAAGGAATCATAAGG 0.368000 40 3 0 0 1 0 0 MSH5 4439 broad.mit.edu 37 6 31711761 31711761 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:31711761C>T uc003nwu.2 + 5 624 c.496C>T c.(496-498)Ctc>Ttc p.L166F MSH5_uc003nwx.2_Missense_Mutation_p.L166F|MSH5_uc003nwv.2_Missense_Mutation_p.L166F|MSH5_uc003nww.2_Missense_Mutation_p.L166F|MSH5_uc011dof.1_5'Flank NM_172165 NP_751897 O43196 MSH5_HUMAN Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA. 166 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|ovary(2)|skin(2) 5 TGAGAAAATCCTCTTCCTCTC 0.517000 Direct reversal of damage;Mismatch excision repair (MMR) 310 31 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98763836 98763836 + Missense_Mutation SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:98763836A>C uc001kmw.2 - 33 4106 c.3854T>G c.(3853-3855)cTc>cGc p.L1285R NM_003061 NP_003052 O75093 SLIT1_HUMAN Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA. 1285 Laminin G-like. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space Roundabout binding|calcium ion 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) TCCCACATAGAGTGGCGCCTC 0.587000 121 15 0 0 1 0 0 OR10A2 341276 broad.mit.edu 37 11 6891546 6891546 + Silent SNP C T T rs144699545 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:6891546C>T uc001meu.1 + 0 561 c.561C>T c.(559-561)atC>atT p.I187I NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA. 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCTACGCCATCGTCGGAACCA 0.517000 126 12 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63256911 63256911 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:63256911C>T uc011cqt.2 - 0 636 c.636G>A c.(634-636)ctG>ctA p.L212L NM_000524 NP_000515 P08908 5HT1A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA. 212 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CATAGAGAACCAGCATGAGCA 0.567000 216 13 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150656780 150656780 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:150656780C>T uc003wic.3 - 2 753 c.352G>A c.(352-354)Gag>Aag p.E118K KCNH2_uc011kux.2_Missense_Mutation_p.E22K|KCNH2_uc003wie.3_Missense_Mutation_p.E118K NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 118 PAC. blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GCCCCATCCTCGTTCTTCACG 0.597000 101 14 0 0 1 0 0 TRA 0 broad.mit.edu 37 14 22180973 22180973 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:22180973G>A uc021roz.1 + 1 253 c.245G>A c.(244-246)cGa>cAa p.R82Q Homo sapiens mRNA for T cell receptor alpha variable 2, partial cds, clone: SEB 280. CAGCAGGGACGATACAACATG 0.512000 166 13 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152276615 152276615 + Missense_Mutation SNP C T T rs144652887 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:152276615C>T uc001ezu.1 - 2 10783 c.10747G>A c.(10747-10749)Gaa>Aaa p.E3583K NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3583 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTCTGTCTTCGTGATGGGAC 0.557000 Ichthyosis 203 35 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8660665 8660665 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:8660665G>A uc002mkj.1 - 11 1734 c.1460C>T c.(1459-1461)tCg>tTg p.S487L ADAMTS10_uc002mkk.1_Missense_Mutation_p.S119L NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 487 Disintegrin. 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 ACACTGACGCGATTTGACTCC 0.612000 284 15 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35729346 35729346 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:35729346A>T uc011axy.2 + 4 589 c.377A>T c.(376-378)gAa>gTa p.E126V ARPP21_uc003cga.3_Missense_Mutation_p.E126V|ARPP21_uc003cgb.3_Missense_Mutation_p.E126V|ARPP21_uc003cgf.3_5'Flank NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA. 126 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 AAAACCTCTGAAAAACCCAAG 0.348000 71 9 0 0 1 0 0 SLC35E2 9906 broad.mit.edu 37 1 1663939 1663939 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:1663939G>A uc001aia.2 - 5 1179 c.756C>T c.(754-756)gtC>gtT p.V252V SLC35E2B_uc001ahh.4_Intron|SLC35E2_uc001ahy.3_Intron NM_182838 NP_878258 P0CK97 S35E2_HUMAN Homo sapiens solute carrier family 35, member E2 (SLC35E2), transcript variant 1, mRNA. 252 integral to membrane endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TGGACAAGGCGACTCGGTGCA 0.617000 24 4 0 0 1 0 0 CD9 928 broad.mit.edu 37 12 6344620 6344620 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:6344620C>T uc010sev.2 + 4 758 c.574C>T c.(574-576)Cat>Tat p.H192Y CD9_uc001qnq.2_Intron P21926 CD9_HUMAN Homo sapiens CD9 molecule (CD9), mRNA. 0 cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation integral to plasma membrane|platelet alpha granule membrane endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 8 CTCTCATCCCCATCCCTGCCT 0.512000 39 6 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20388965 20388965 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:20388965C>T uc010tkw.2 + 0 200 c.200C>T c.(199-201)tCc>tTc p.S67F NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L66H(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGAAACCTTTCCTTTGTTGAC 0.433000 132 10 0 0 1 0 0 JHDM1D 80853 broad.mit.edu 37 7 139790936 139790936 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:139790936G>A uc003vvm.3 - 19 2788 c.2784C>T c.(2782-2784)atC>atT p.I928I JHDM1D_uc010lng.3_Non-coding_Transcript NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA. 928 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TCAACTTAAGGATCTTCCCAA 0.443000 96 16 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53185151 53185151 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:53185151C>T uc001say.3 - 6 1440 c.1374G>A c.(1372-1374)aaG>aaA p.K458K NM_057088 NP_476429 P12035 K2C3_HUMAN Homo sapiens keratin 3 (KRT3), mRNA. 458 Coil 2.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 CATTGGCATCCTTGAGGGCCA 0.592000 114 10 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4703814 4703814 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:4703814C>T uc003bqc.3 + 13 1605 c.1255C>T c.(1255-1257)Ccg>Tcg p.P419S ITPR1_uc021wsi.1_Missense_Mutation_p.P434S|ITPR1_uc021wsj.1_Missense_Mutation_p.P419S|ITPR1_uc011asu.2_Intron NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 434 MIR 5. activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding p.P419L(1) NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TGCCATAGTTCCGGTTTCTCC 0.507000 73 9 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2949716 2949716 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:2949716G>A uc003smv.3 - 23 3562 c.3228C>T c.(3226-3228)atC>atT p.I1076I NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 1076 Guanylate kinase-like. T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CACACACCCGGATGAAGAGCA 0.587000 Mis DLBCL 213 14 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71433891 71433891 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:71433891G>A uc010dfm.3 - 7 987 c.987C>T c.(985-987)ccC>ccT p.P329P SDK2_uc010dfn.2_Silent_p.P8P NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 329 Ig-like C2-type 4. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TGGCCTGACAGGGGATGTCCA 0.562000 168 10 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38639247 38639247 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:38639247G>A uc021wvo.1 - 12 2287 c.2235C>T c.(2233-2235)ttC>ttT p.F745F SCN5A_uc021wvk.1_Silent_p.F745F|SCN5A_uc021wvl.1_Silent_p.F745F|SCN5A_uc021wvm.1_Silent_p.F745F|SCN5A_uc021wvn.1_Silent_p.F745F|SCN5A_uc021wvp.1_Silent_p.F745F|SCN5A_uc021wvq.1_Silent_p.F745F|SCN5A_uc021wvr.1_Silent_p.F745F|SCN5A_uc021wvs.1_Silent_p.F745F|SCN5A_uc021wvt.1_Silent_p.F745F|SCN5A_uc021wvu.1_Silent_p.F745F|SCN5A_uc021wvv.1_Silent_p.F745F|SCN5A_uc021wvj.1_Silent_p.F611F|SCN5A_uc021wvi.1_Silent_p.F611F|SCN5A_uc021wvw.1_Silent_p.F356F NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 745 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GCATCTCCTCGAATTCACTTG 0.562000 92 9 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70841757 70841757 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:70841757G>A uc002ezr.3 - 85 15240 c.15089C>T c.(15088-15090)tCg>tTg p.S5030L HYDIN_uc010cfy.3_Non-coding_Transcript NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 5031 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GGCTCGGATCGAGAAGGGACC 0.532000 95 5 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92076824 92076824 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:92076824C>T uc001xzs.1 - 21 2738 c.2598_splice c.e21+1 p.P866_splice CATSPERB_uc010aub.1_Splice_Site_p.P388_splice NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 866 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TTTTTTTTACCGGCAAAGTTT 0.358000 53 3 0 0 1 0 0 SPPL2C 162540 broad.mit.edu 37 17 43922587 43922587 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:43922587G>A uc010wka.2 + 0 332 c.315G>A c.(313-315)acG>acA p.T105T MAPT-AS1_uc010wjz.2_Intron NM_175882 NP_787078 Q8IUH8 IMP5_HUMAN Homo sapiens intramembrane protease 5 (IMP5), mRNA. 105 integral to membrane aspartic-type endopeptidase activity GCTTCCACACGAAAGGCTGGC 0.667000 88 7 0 0 1 0 0 SNORD114-22 767600 broad.mit.edu 37 14 101449280 101449280 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:101449280C>T uc001yjm.3 + 0 c.18C>T Homo sapiens small nucleolar RNA, C/D box 114-22 (SNORD114-22), small nucleolar RNA. ATGATGACTACCGGTGGCGTA 0.368000 111 11 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23749924 23749924 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:23749924C>T uc003sws.4 + 0 87 c.20C>T c.(19-21)tCt>tTt p.S7F STK31_uc003swt.4_5'UTR|STK31_uc011jze.2_Missense_Mutation_p.S7F|STK31_uc010kuq.3_5'Flank NM_031414 NP_116562 Q9BXU1 STK31_HUMAN Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA. 7 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CAGGGTCACTCTTCTAGAGCT 0.582000 40 5 0 0 1 0 0 ZNF578 147660 broad.mit.edu 37 19 53015056 53015056 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:53015056G>A uc002pzp.4 + 5 1666 c.1422G>A c.(1420-1422)aaG>aaA p.K474K NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN Homo sapiens zinc finger protein 578 (ZNF578), mRNA. 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) AGAGACACAAGATAATTCATA 0.408000 67 15 0 0 1 0 0 OR2D3 120775 broad.mit.edu 37 11 6942668 6942668 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:6942668C>T uc010rav.2 + 0 436 c.436C>T c.(436-438)Ctg>Ttg p.L146L NM_001004684 NP_001004684 Q8NGH3 OR2D3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA. 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTGCAAGCCCCTGTACTACTC 0.512000 135 13 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92731123 92731123 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:92731123C>T uc003umf.3 - 2 4558 c.4288G>A c.(4288-4290)Gaa>Aaa p.E1430K SAMD9_uc003umg.3_Missense_Mutation_p.E1430K|SAMD9_uc022ahg.1_Missense_Mutation_p.E1430K NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 1430 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) AAATACGGTTCTGAAAACTGA 0.373000 131 11 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119588924 119588924 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:119588924C>T uc001txa.2 + 9 1567 c.1179C>T c.(1177-1179)tcC>tcT p.S393S NM_194286 NP_919262 A7MD48 SRRM4_HUMAN Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA. 393 Ser-rich. RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing nucleus mRNA binding p.S393F(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 CCCGCAGCTCCTCCTATGCCA 0.567000 104 4 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616379 248616379 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:248616379C>T uc001iek.1 + 0 281 c.281C>T c.(280-282)tCc>tTc p.S94F NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA. 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAGACCATTTCCTTCCTGGGC 0.522000 208 7 0 0 1 0 0 DUSP15 128853 broad.mit.edu 37 20 30451750 30451750 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:30451750G>A uc002wwu.1 - 4 291 c.214C>T c.(214-216)Cac>Tac p.H72Y DUSP15_uc002wwv.1_5'UTR|DUSP15_uc002www.1_5'UTR|DUSP15_uc002wwx.1_Missense_Mutation_p.H75Y Q9H1R2 DUS15_HUMAN Homo sapiens dual specificity phosphatase 15 (DUSP15), transcript variant 1, mRNA. 72 Tyrosine-protein phosphatase. cytoplasm|plasma membrane protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(1)|lung(4)|pancreas(1)|stomach(1) 7 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CGGCAGCAGTGGATGAAGTTG 0.552000 153 11 0 0 1 0 0 GCNT4 51301 broad.mit.edu 37 5 74325058 74325058 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:74325058G>A uc003kdn.3 - 0 1667 c.805C>T c.(805-807)Cat>Tat p.H269Y NM_016591 NP_057675 Q9P109 GCNT4_HUMAN Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA. 269 protein O-linked glycosylation Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) CTAAGTTCATGATGGTAAGTG 0.398000 133 8 0 0 1 0 0 RBM23 55147 broad.mit.edu 37 14 23371420 23371420 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:23371420G>A uc001whg.3 - 10 1301 c.1102C>T c.(1102-1104)Cag>Tag p.Q368* RBM23_uc001whh.3_Nonsense_Mutation_p.Q352*|RBM23_uc001whi.3_Nonsense_Mutation_p.Q334*|RBM23_uc010tne.2_Nonsense_Mutation_p.Q198*|RBM23_uc001whj.3_Nonsense_Mutation_p.Q118* NM_001077351 NP_001070819 Q86U06 RBM23_HUMAN Homo sapiens RNA binding motif protein 23 (RBM23), transcript variant 1, mRNA. 368 mRNA processing nucleus RNA binding|nucleotide binding endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1) 10 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.0128) GCCATGAGCTGAAAACGTCCA 0.498000 104 6 0 0 1 0 0 FAM19A1 407738 broad.mit.edu 37 3 68466432 68466432 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:68466432G>A uc003dnd.3 + 2 337 c.121G>A c.(121-123)Gga>Aga p.G41R FAM19A1_uc003dne.3_Missense_Mutation_p.G41R|FAM19A1_uc003dng.3_Missense_Mutation_p.G41R NM_001252216 NP_001239145 Q7Z5A9 F19A1_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA. 41 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) CTTGCCAGAAGGAGGGACGTG 0.468000 24 4 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68940116 68940116 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:68940116G>A uc009xpn.1 - 6 1129 c.1006C>T c.(1006-1008)Cgc>Tgc p.R336C CTNNA3_uc001jmw.2_Missense_Mutation_p.R336C|CTNNA3_uc001jmx.4_Missense_Mutation_p.R336C|CTNNA3_uc009xpo.1_Missense_Mutation_p.R196C|CTNNA3_uc001jna.2_Missense_Mutation_p.R348C NM_001127384 NP_037398 Q9UI47 CTNA3_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA. 336 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity p.R336C(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 AGAGCCTGGCGAATGGCGTTG 0.512000 48 6 0 0 1 0 0 TCP10L2 401285 broad.mit.edu 37 6 167590488 167590488 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:167590488T>C uc010kkp.3 + 3 495 c.364T>C c.(364-366)Ttg>Ctg p.L122L NM_001145121 NP_001138593 B9ZVM9 B9ZVM9_HUMAN Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA. 122 endometrium(1)|kidney(2)|lung(3) 6 CTTTTAGGCATTGGAACCTGC 0.388000 158 7 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41076964 41076964 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:41076964C>T uc002xkg.3 - 8 1640 c.1456G>A c.(1456-1458)Gga>Aga p.G486R PTPRT_uc010ggj.3_Missense_Mutation_p.G486R NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 486 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGAACAGCTCCTGGAACTACA 0.483000 49 7 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41000803 41000803 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:41000803G>A uc002ony.3 + 6 674 c.588_splice c.e6-1 p.G196_splice SPTBN4_uc002onx.3_Splice_Site_p.G196_splice|SPTBN4_uc002onz.3_Splice_Site_p.G196_splice NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 196 Actin-binding.|CH 2. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) cacccttccAGTTACCCTGAG 0.542000 60 4 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174830 150174830 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:150174830G>A uc003whj.3 + 4 2290 c.1960G>A c.(1960-1962)Gaa>Aaa p.E654K NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 654 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GTCCCAAGCCGAAAAACTCCT 0.463000 77 8 0 0 1 0 0 BIN3 55909 broad.mit.edu 37 8 22481492 22481492 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:22481492G>A uc003xcl.3 - 7 648 c.551C>T c.(550-552)cCg>cTg p.P184L BIN3_uc010ltw.3_Missense_Mutation_p.P130L NM_018688 NP_061158 Q9NQY0 BIN3_HUMAN Homo sapiens bridging integrator 3 (BIN3), mRNA. 184 BAR. actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth cytoplasm|cytoskeleton cytoskeletal adaptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 9 Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143) BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) GTAGAAGCGCGGCATCTCCTC 0.617000 23 3 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47389690 47389690 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:47389690T>C uc002leb.2 - 28 4139 c.3851A>G c.(3850-3852)aAc>aGc p.N1284S MYO5B_uc002lea.2_Missense_Mutation_p.N425S NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 1284 protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GGCATTAATGTTCGGCTCCTA 0.428000 83 5 0 0 1 0 0 ODZ1 10178 broad.mit.edu 37 X 123518537 123518537 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:123518537C>T uc010nqy.3 - 29 6308 c.6244G>A c.(6244-6246)Gag>Aag p.E2082K ODZ1_uc011muj.2_Missense_Mutation_p.E2081K|ODZ1_uc004euj.3_Missense_Mutation_p.E2075K NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 2075 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding p.F2082F(1) NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 CCAAACTGCTCTGTTCTGCCA 0.383000 51 4 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122002610 122002610 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:122002610C>T uc003eew.4 + 6 2277 c.1839C>T c.(1837-1839)atC>atT p.I613I CASR_uc003eev.4_Silent_p.I603I NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 603 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity p.G613W(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CCAAGGAGATCGAGTTTCTGT 0.517000 78 6 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 120385879 120385879 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:120385879G>A uc003vjj.1 + 4 2478 c.1513G>A c.(1513-1515)Gaa>Aaa p.E505K NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA. 505 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) AAGCTGCATGGAAGTTGCAAC 0.408000 30 3 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46847631 46847631 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:46847631C>T uc003oyo.3 - 8 1249 c.960G>A c.(958-960)tcG>tcA p.S320S GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Silent_p.S320S|GPR116_uc010jzi.1_5'UTR|GPR116_uc003oyr.2_Silent_p.S320S NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 320 Ig-like 1. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CGGTGTAAATCGAGAATCTGC 0.463000 98 9 0 0 1 0 0 KRT27 342574 broad.mit.edu 37 17 38933310 38933310 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:38933310T>A uc002hvg.3 - 7 1362 c.1321A>T c.(1321-1323)Act>Tct p.T441S NM_181537 NP_853515 Q7Z3Y8 K1C27_HUMAN Homo sapiens keratin 27 (KRT27), mRNA. 441 Tail. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) TCTTCCACAGTGTGAACTCTG 0.413000 68 7 0 0 1 0 0 SV2C 22987 broad.mit.edu 37 5 75505590 75505590 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:75505590C>T uc003kei.1 + 3 925 c.791C>T c.(790-792)tCg>tTg p.S264L NM_014979 NP_055794 Q496J9 SV2C_HUMAN Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA. 264 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.S264*(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) ACTGTGTTCTCGTACTTTGCT 0.557000 100 6 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82763711 82763711 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:82763711G>A uc003uhx.2 - 2 3444 c.3155C>T c.(3154-3156)tCg>tTg p.S1052L PCLO_uc003uhv.2_Missense_Mutation_p.S1052L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 998 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGGTTTGGGCGATTTCTCCAG 0.408000 42 7 0 0 1 0 0 HPS4 89781 broad.mit.edu 37 22 26860447 26860447 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:26860447G>A uc003acl.3 - 10 1808 c.1149C>T c.(1147-1149)gcC>gcT p.A383A HPS4_uc003aci.3_Silent_p.A378A|HPS4_uc003acj.3_Silent_p.A247A|HPS4_uc003ack.3_Silent_p.A174A|HPS4_uc003acn.3_Silent_p.A229A|HPS4_uc010gvd.1_Silent_p.A401A|HPS4_uc003ach.3_Silent_p.A118A NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA. 383 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 AATGACCTGAGGCCATTTCCA 0.547000 Hermansky-Pudlak syndrome 52 7 0 0 1 0 0 BC071797 0 broad.mit.edu 37 21 9769119 9769119 + RNA SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:9769119G>A uc011abu.2 + 9 c.1094G>A Homo sapiens, clone IMAGE:4720764, mRNA. GCTCAATTCCGATCTGTTGAA 0.373000 11 3 0 0 1 0 0 ESPNL 339768 broad.mit.edu 37 2 239040037 239040037 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:239040037G>A uc002vxq.4 + 8 2792 c.2682G>A c.(2680-2682)tgG>tgA p.W894* ESPNL_uc010fyw.3_Nonsense_Mutation_p.W590* NM_194312 NP_919288 Q6ZVH7 ESPNL_HUMAN Homo sapiens espin-like (ESPNL), mRNA. 894 p.G893C(2) endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) CCCACGGCTGGGAGGCTGTGC 0.687000 12 3 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56320319 56320319 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:56320319G>A uc010ygf.2 - 4 2368 c.1657C>T c.(1657-1659)Cgg>Tgg p.R553W NLRP11_uc002qlz.3_Missense_Mutation_p.R454W|NLRP11_uc002qmb.3_Missense_Mutation_p.R454W|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 553 ATP binding p.N552N(1)|p.R553L(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TCTTCTTCCCGATTCTCATAG 0.433000 87 11 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102338566 102338566 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:102338566C>T uc004eju.3 - 3 477 c.406G>A c.(406-408)Gaa>Aaa p.E136K NXF3_uc010noi.1_5'UTR|NXF3_uc011mrw.1_Missense_Mutation_p.E136K|NXF3_uc011mrx.1_Missense_Mutation_p.E47K NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA. 136 RRM. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 ACACTGCATTCATTCTGAATC 0.463000 85 18 0 0 1 0 0 TRIM29 23650 broad.mit.edu 37 11 119986103 119986103 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:119986103C>T uc001pwz.3 - 7 1771 c.1647G>A c.(1645-1647)cgG>cgA p.R549R TRIM29_uc001pwx.3_Non-coding_Transcript|TRIM29_uc010rzi.2_Silent_p.R288R|TRIM29_uc010rzj.2_Silent_p.R282R|TRIM29_uc001pxa.3_Non-coding_Transcript NM_012101 NP_036233 Q14134 TRI29_HUMAN Homo sapiens tripartite motif containing 29 (TRIM29), mRNA. 549 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) GGCTTTGGCTCCGCATGAGGG 0.622000 43 5 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60687892 60687892 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:60687892C>T uc002sae.1 - 3 2383 c.2155G>A c.(2155-2157)Gga>Aga p.G719R BCL11A_uc002sab.3_Missense_Mutation_p.G719R|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.G388R|BCL11A_uc010ypj.2_Missense_Mutation_p.G685R|BCL11A_uc002sad.1_Missense_Mutation_p.G567R|BCL11A_uc002saf.1_Missense_Mutation_p.G685R NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 719 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GTGCTCCCTCCACTTCCCGTG 0.647000 T IGH@ B-CLL 75 8 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153035405 153035405 + Silent SNP C T T rs147489207 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:153035405C>T uc011dcy.2 + 4 729 c.702C>T c.(700-702)atC>atT p.I234I GRIA1_uc003lva.4_Silent_p.I224I|GRIA1_uc003luy.4_Silent_p.I224I|GRIA1_uc003luz.4_Silent_p.I129I|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.I144I|GRIA1_uc011dcx.2_Silent_p.I155I|GRIA1_uc011dcz.2_Silent_p.I234I|GRIA1_uc010jia.1_Silent_p.I204I NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 224 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGAATGGCATCGGCTACCACT 0.443000 59 8 0 0 1 0 0 TAAR6 319100 broad.mit.edu 37 6 132891930 132891930 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:132891930G>A uc011eck.2 + 0 470 c.470G>A c.(469-471)tGg>tAg p.W157* NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA. 157 plasma membrane G-protein coupled receptor activity p.S156Y(1) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) AGCGTGTCCTGGATCCTGCCC 0.502000 226 17 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174967 63174967 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:63174967C>T uc001xfx.3 - 10 2277 c.2226G>A c.(2224-2226)caG>caA p.Q742Q KCNH5_uc001xfy.3_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 742 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) AGGCTCCATTCTGTAAGGAGC 0.532000 62 9 0 0 1 0 0 CSNK1D 1453 broad.mit.edu 37 17 80213452 80213452 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:80213452C>T uc002kej.3 - 3 525 c.188_splice c.e3-1 p.V63_splice CSNK1D_uc002kei.3_Splice_Site_p.V63_splice|CSNK1D_uc010wvj.2_Splice_Site|CSNK1D_uc002keh.3_5'Flank|CSNK1D_uc010dim.1_5'Flank NM_001893 NP_001884 P48730 KC1D_HUMAN Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA. 63 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|circadian regulation of gene expression|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|large_intestine(2)|lung(7) 11 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) TGGGGATGCCCACTAGGCAAG 0.572000 229 17 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52541961 52541961 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:52541961G>A uc003dej.3 + 19 2141 c.2067G>A c.(2065-2067)aaG>aaA p.K689K STAB1_uc003dei.1_Silent_p.K689K NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 689 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.P688R(1) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TCTTCCCCAAGGAGTGTGTCT 0.577000 166 12 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76417031 76417031 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:76417031C>T uc021rkq.1 + 24 4411 c.4076C>T c.(4075-4077)tCa>tTa p.S1359L LMO7_uc010thv.2_Missense_Mutation_p.S1077L|LMO7_uc001vjt.1_Missense_Mutation_p.S1025L|LMO7_uc001vjv.3_Missense_Mutation_p.S1126L|LMO7_uc010thw.2_Missense_Mutation_p.S1003L|LMO7_uc001vjw.1_Missense_Mutation_p.S1032L NM_005358 NP_005349 Q8WWI1 LMO7_HUMAN Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA. 1411 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) GAAGCATCTTCAGGTTTTCTT 0.353000 70 6 0 0 1 0 0 PRKG2 5593 broad.mit.edu 37 4 82031727 82031727 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:82031727C>T uc003hmh.2 - 13 1828 c.1815G>A c.(1813-1815)caG>caA p.Q605Q PRKG2_uc011ccf.1_Silent_p.Q185Q|PRKG2_uc011ccg.1_Silent_p.Q185Q|PRKG2_uc011cch.1_Silent_p.Q576Q NM_006259 NP_006250 Q13237 KGP2_HUMAN Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA. 605 Protein kinase. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 TCCATGTTTTCTGTCCAGACC 0.418000 37 4 0 0 1 0 0 ZER1 10444 broad.mit.edu 37 9 131502360 131502360 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:131502360G>A uc004bwa.1 - 12 2325 c.1892C>T c.(1891-1893)tCc>tTc p.S631F NM_006336 NP_006327 Q7Z7L7 ZER1_HUMAN Homo sapiens zer-1 homolog (C. elegans) (ZER1), mRNA. 631 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 15 GGCATTGTAGGAAACCTCGAT 0.582000 20 3 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186670558 186670558 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:186670558G>A uc002upl.3 + 16 16792 c.16792G>A c.(16792-16794)Ggg>Agg p.G5598R FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CCTAACATCAGGGTTGGCTAC 0.348000 41 4 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141722237 141722237 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141722237G>A uc003vwy.3 + 6 934 c.880G>A c.(880-882)Gga>Aga p.G294R NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 294 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AACTCCCAATGGAGTAAGCTT 0.433000 60 7 0 0 1 0 0 TRIM37 4591 broad.mit.edu 37 17 57168659 57168660 + Splice_Site DNP AC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:57168659_57168660AC>TT uc002iwy.4 - 3 608 c.164_splice c.e3+1 p.R55_splice TRIM37_uc002iwz.4_Splice_Site_p.R55_splice|TRIM37_uc002ixa.4_Splice_Site|TRIM37_uc010woc.2_Splice_Site_p.R21_splice NM_001005207 NP_056109 O94972 TRI37_HUMAN Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA. 55 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) GGAAACACTTACCGGCAATGAG 0.381000 Mulibrey Nanism 72 7 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21230629 21230629 + Silent SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:21230629A>T uc002red.3 - 25 9239 c.9111T>A c.(9109-9111)ctT>ctA p.L3037L NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3037 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.S3036Y(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTGAAAAGAAAAGAGAATTTT 0.408000 38 7 0 0 1 0 0 ZC3H12D 340152 broad.mit.edu 37 6 149777980 149777980 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:149777980G>A uc010kid.3 - 3 772 c.502C>T c.(502-504)Cgc>Tgc p.R168C ZC3H12D_uc003qmn.1_Missense_Mutation_p.R168C NM_207360 NP_997243 A2A288 ZC12D_HUMAN Homo sapiens zinc finger CCCH-type containing 12D (ZC3H12D), mRNA. 168 cytoplasm|nucleus endonuclease activity|nucleic acid binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 6 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921) TGCACCTTGCGGGACGGCGTG 0.682000 89 7 0 0 1 0 0 CCDC87 55231 broad.mit.edu 37 11 66359357 66359357 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:66359357C>T uc001oiq.4 - 0 1198 c.1130G>A c.(1129-1131)gGc>gAc p.G377D CCS_uc001oir.3_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA. 377 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 AGGAGGCAGGCCTGAGTCCAG 0.582000 90 9 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105410406 105410406 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:105410406C>T uc010axc.1 - 6 11502 c.11382G>A c.(11380-11382)aaG>aaA p.K3794K AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.K3694K NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 3794 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CAGTCACATCCTTGTCGGCCA 0.582000 511 87 0 0 1 0 0 ITGB2 3689 broad.mit.edu 37 21 46308786 46308786 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:46308786G>A uc002zgd.2 - 12 1946 c.1902C>T c.(1900-1902)ttC>ttT p.F634F ITGB2_uc002zgf.3_Silent_p.F634F|ITGB2_uc011afl.1_Silent_p.F556F|ITGB2_uc010gpw.2_Silent_p.F577F|ITGB2_uc002zgg.2_Silent_p.F634F NM_001127491 NP_001120963 P05107 ITB2_HUMAN Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA. 634 apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) GGCCCTTTTCGAACTTCAGGC 0.677000 41 5 0 0 1 0 0 BPIFB6 128859 broad.mit.edu 37 20 31627275 31627275 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:31627275C>T uc010zuc.2 + 9 1023 c.1023C>T c.(1021-1023)ttC>ttT p.F341F BPIFB6_uc010zud.2_Silent_p.F280F NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA. 341 extracellular region lipid binding TGGAGATGTTCGCAGCTCGGT 0.522000 154 13 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101477456 101477456 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:101477456G>A uc010svm.1 + 16 1968 c.1396_splice c.e16-1 p.E466_splice ANO4_uc001thw.2_Splice_Site_p.E431_splice|ANO4_uc001thx.2_Splice_Site_p.E466_splice|ANO4_uc001thy.2_Intron NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 466 Poly-Glu. 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 TGTCCTTTAGGAAGAAATACG 0.378000 HNSCC(74;0.22) 70 13 0 0 1 0 0 GRHL2 79977 broad.mit.edu 37 8 102555576 102555577 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:102555576_102555577CC>TT uc010mbu.3 + 1 458_459 c.128_129CC>TT c.(127-129)ccc>cTT p.P43L GRHL2_uc010mbt.1_Missense_Mutation_p.P43L|GRHL2_uc011lhi.1_Missense_Mutation_p.P43L NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA. 43 Transcription activation. cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TTGGAGAATCCCCTGACAGCAG 0.545000 96 8 0 0 1 0 0 OR7A17 26333 broad.mit.edu 37 19 14991700 14991700 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:14991700G>A uc010xob.2 - 0 468 c.468C>T c.(466-468)tcC>tcT p.S156S NM_030901 NP_112163 O14581 OR7AH_HUMAN Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA. 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Ovarian(108;0.203) TTTGTGACAAGGAATTCAGGG 0.488000 109 11 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82431795 82431795 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:82431795C>T uc001dit.4 + 10 2201 c.2020C>T c.(2020-2022)Cct>Tct p.P674S LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.P674S|LPHN2_uc001div.3_Missense_Mutation_p.P674S|LPHN2_uc009wcd.3_Missense_Mutation_p.P674S|LPHN2_uc001diw.3_Missense_Mutation_p.P258S NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 687 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.P674S(2) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CTTTAAATTTCCTCTGGGCAT 0.438000 94 13 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963707 73963707 + Missense_Mutation SNP C T T rs139459124 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:73963707C>T uc004eby.3 - 2 1302 c.685G>A c.(685-687)Gat>Aat p.D229N NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 229 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity p.E228D(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TGAGCCGGATCCTCCAAGTCA 0.478000 69 14 0 0 1 0 0 GTF2IP1 2970 broad.mit.edu 37 7 72606585 72606585 + Silent SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:72606585A>T uc003txo.4 + 10 1460 c.579A>T c.(577-579)atA>atT p.I193I FKBP6_uc003twz.2_Intron|GTF2IP1_uc011keq.1_Silent_p.I193I Homo sapiens general transcription factor IIi, pseudogene 1 (GTF2IP1), non-coding RNA. CTAGTAAAATAAACACTAAAG 0.418000 45 9 0 0 1 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49973716 49973716 + Missense_Mutation SNP G C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:49973716G>C uc002pnt.3 + 16 2517 c.2401G>C c.(2401-2403)Ggg>Cgg p.G801R ALDH16A1_uc010yar.2_Missense_Mutation_p.G750R|ALDH16A1_uc010yas.2_Missense_Mutation_p.G636R|ALDH16A1_uc010yat.2_Missense_Mutation_p.G638R NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA. 801 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) GCTGCCTATGGGGGACTGATG 0.672000 10 3 0 0 1 0 0 SIM2 6493 broad.mit.edu 37 21 38103386 38103386 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:38103386G>A uc002yvr.2 + 6 840 c.784G>A c.(784-786)Gag>Aag p.E262K SIM2_uc002yvq.3_Missense_Mutation_p.E262K NM_005069 NP_005060 Q14190 SIM2_HUMAN Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA. 262 PAS 2. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 GGACCTGATCGAGAAGACCCT 0.612000 124 13 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64665636 64665636 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:64665636G>A uc001obx.3 - 33 4895 c.4780C>T c.(4780-4782)Ctc>Ttc p.L1594F ATG2A_uc001obw.3_Missense_Mutation_p.L359F NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA. 1594 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 AGGAAGAAGAGGGCATCCTGC 0.622000 OREG0004029 type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 107 8 0 0 1 0 0 ABTB2 25841 broad.mit.edu 37 11 34192558 34192558 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:34192558G>A uc001mvl.2 - 4 1883 c.1458C>T c.(1456-1458)ttC>ttT p.F486F NM_145804 NP_665803 A8K6S9 A8K6S9_HUMAN Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA. 300 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) GGTCCTGGTTGAATTTTTCAG 0.557000 58 6 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39823112 39823112 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:39823112C>T uc021olw.1 + 8 6810 c.6810C>T c.(6808-6810)gcC>gcT p.A2270A MACF1_uc021ols.1_Silent_p.A1768A|MACF1_uc001cdc.2_Silent_p.A1768A|MACF1_uc021olt.1_Silent_p.A1768A|MACF1_uc001cda.1_Silent_p.A1676A|MACF1_uc001cdb.1_Silent_p.A855A NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 3835 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAGCTCAGGCCTTCTTGGATC 0.502000 67 8 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82388008 82388008 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:82388008C>T uc003uhx.2 - 24 15601 c.15312G>A c.(15310-15312)ggG>ggA p.G5104G NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 5027 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCATAAACTTCCCTCCATTGG 0.323000 38 4 0 0 1 0 0 TGFB3 7043 broad.mit.edu 37 14 76429781 76429781 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:76429781C>T uc001xsc.2 - 4 1660 c.804G>A c.(802-804)aaG>aaA p.K268K TGFB3_uc001xsd.3_Silent_p.K266K NM_003239 NP_003230 P10600 TGFB3_HUMAN Homo sapiens transforming growth factor, beta 3 (TGFB3), mRNA. 268 cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of DNA replication|negative regulation of cell proliferation|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway extracellular matrix|platelet alpha granule lumen growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.0169) CCTTCTGCTTCTTGAGGCGCC 0.572000 136 15 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146741093 146741093 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:146741093G>A uc003weu.2 + 3 1013 c.497G>A c.(496-498)tGg>tAg p.W166* NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 166 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCTCTGGATTGGAATGGAGAA 0.433000 HNSCC(39;0.1) 188 12 0 0 1 0 0 PYGO2 90780 broad.mit.edu 37 1 154931799 154931799 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:154931799G>A uc001fft.3 - 2 883 c.677C>T c.(676-678)cCt>cTt p.P226L NM_138300 NP_612157 Q9BRQ0 PYGO2_HUMAN Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA. 226 Pro-rich. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1) 10 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TCTCTGGAGAGGAGAAGGGCC 0.627000 33 4 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64167478 64167478 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:64167478C>T uc003ttd.3 + 6 1582 c.796C>T c.(796-798)Cat>Tat p.H266Y ZNF107_uc003tte.3_Missense_Mutation_p.H266Y NM_016220 NP_057304 Q9UII5 ZN107_HUMAN Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA. 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) TAAGAGAATTCATGCTGGGGA 0.358000 32 6 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38843385 38843385 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:38843385G>A uc021yzh.1 + 52 7748 c.7639G>A c.(7639-7641)Ggg>Agg p.G2547R DNAH8_uc003ooe.2_Missense_Mutation_p.G2330R NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCTTCTGGAAGGGTTAATTCC 0.299000 35 4 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96826983 96826983 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:96826983C>T uc001kkb.3 - 2 558 c.463G>A c.(463-465)Gag>Aag p.E155K CYP2C8_uc010qoa.2_Missense_Mutation_p.E85K|CYP2C8_uc010qoc.2_Missense_Mutation_p.E53K|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.E69K|CYP2C8_uc021pwl.1_Missense_Mutation_p.E85K|CYP2C8_uc010qod.1_Missense_Mutation_p.E69K NM_000770 NP_000761 P10632 CP2C8_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA. 155 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) TTTCTCAACTCCTCCACAAGG 0.512000 148 9 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380580 147380580 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:147380580C>T uc021ovm.1 + 0 498 c.498C>T c.(496-498)atC>atT p.I166I GJA8_uc001epu.2_Silent_p.I166I NM_005267 NP_005258 P48165 CXA8_HUMAN Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA. 166 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) TGGGCTTCATCGTGGGCCACT 0.607000 189 22 0 0 1 0 0 RIPPLY2 134701 broad.mit.edu 37 6 84567050 84567050 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:84567050C>T uc003pke.3 + 3 480 c.329C>T c.(328-330)tCa>tTa p.S110L CYB5R4_uc003pkf.3_5'Flank NM_001009994 NP_001009994 Q5TAB7 RIPP2_HUMAN Homo sapiens ripply2 homolog (zebrafish) (RIPPLY2), mRNA. 110 Ripply homology domain. somite rostral/caudal axis specification nucleus large_intestine(2)|lung(4)|urinary_tract(1) 7 GCCACAATTTCATTTTATGAA 0.323000 102 9 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152426609 152426609 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:152426609C>T uc021vrb.1 - 79 12342 c.12313G>A c.(12313-12315)Gaa>Aaa p.E4105K NEB_uc002txr.3_Missense_Mutation_p.E571K|NEB_uc002txu.3_Missense_Mutation_p.E5806K|NEB_uc021vrc.1_Missense_Mutation_p.E5806K|NEB_uc010fnx.3_Missense_Mutation_p.E4093K|NEB_uc021vrd.1_Missense_Mutation_p.E4105K NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 4105 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTCTGCAGTTCGTAGGCCTTC 0.512000 13 3 0 0 1 0 0 GNB1 2782 broad.mit.edu 37 1 1721867 1721867 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:1721867G>A uc001aif.3 - 8 1029 c.666C>T c.(664-666)ttC>ttT p.F222F GNB1_uc009vky.3_Silent_p.F122F NM_002074 NP_002065 P62873 GBB1_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1 (GNB1), mRNA. 222 Ras protein signal transduction|cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|synaptic transmission heterotrimeric G-protein complex GTPase activity|GTPase binding|signal transducer activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 12 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236) CGTGGCCAGTGAAGGTCTGCC 0.557000 111 10 0 0 1 0 0 TMEM176A 55365 broad.mit.edu 37 7 150501559 150501559 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:150501559G>A uc003whx.1 + 6 744 c.666_splice c.e6+1 p.G222_splice NM_018487 NP_060957 Q96HP8 T176A_HUMAN Homo sapiens transmembrane protein 176A (TMEM176A), mRNA. 222 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCAACCAAAGGGGTGAGTCCC 0.552000 89 8 0 0 1 0 0 C15orf42 90381 broad.mit.edu 37 15 90152080 90152080 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:90152080C>T uc002boe.3 + 14 2769 c.2769C>T c.(2767-2769)tcC>tcT p.S923S C15orf42_uc021sug.1_Silent_p.S922S NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA. 923 S -> C (in dbSNP:rs16943377). DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 59 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) AATTGCTTTCCCCTTCAAAGA 0.378000 46 5 0 0 1 0 0 WRAP53 55135 broad.mit.edu 37 17 7604846 7604846 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:7604846C>T uc010vuh.2 + 5 956 c.801C>T c.(799-801)tcC>tcT p.S267S WRAP53_uc010vui.2_Silent_p.S267S|WRAP53_uc002gip.3_Silent_p.S267S|WRAP53_uc002gir.3_Silent_p.S267S|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Silent_p.S234S|WRAP53_uc010vuj.2_Silent_p.S48S NM_001143990 NP_060551 Q9BUR4 WAP53_HUMAN Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA. 267 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex RNA binding|protein binding p.A266T(1) endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 TCCGGGCTTCCTTTCGCGCCT 0.607000 151 13 0 0 1 0 0 HNRNPM 4670 broad.mit.edu 37 19 8550627 8550627 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:8550627C>T uc010dwe.3 + 13 1395 c.1315C>T c.(1315-1317)Ctg>Ttg p.L439L HNRNPM_uc010xke.1_Silent_p.L385L|HNRNPM_uc010dwd.3_Silent_p.L400L|HNRNPM_uc002mka.3_Silent_p.L304L|HNRNPM_uc002mkb.1_5'Flank NM_005968 NP_005959 P52272 HNRPM_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA. 439 27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV]. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles RNA binding|nucleotide binding|protein domain specific binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 GCGCATGGGCCTGGTCATGGA 0.701000 136 11 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47865836 47865836 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:47865836C>T uc010xyn.2 + 5 1828 c.1479C>T c.(1477-1479)ggC>ggT p.G493G DHX34_uc010elc.1_Silent_p.G408G NM_014681 NP_055496 Q14147 DHX34_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA. 493 Helicase C-terminal. intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) GCCGGGCGGGCCGCACGGGCC 0.647000 27 7 0 0 1 0 0 MST1P9 11223 broad.mit.edu 37 1 17085795 17085795 + Silent SNP G T T rs1057379 by1000genomes TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:17085795G>T uc010ock.2 - 7 1026 c.1026C>A c.(1024-1026)atC>atA p.I342I CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA. p.I332I(2)|p.I342I(2) breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1) 34 TACAACGCCGGATCTGGTAGC 0.687000 32 6 2.17888e-05 2.19448e-05 1 1 0 GCNT4 51301 broad.mit.edu 37 5 74324860 74324860 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:74324860C>T uc003kdn.3 - 0 1865 c.1003G>A c.(1003-1005)Gat>Aat p.D335N NM_016591 NP_057675 Q9P109 GCNT4_HUMAN Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA. 335 protein O-linked glycosylation Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) AAGTGCTCATCAGGAGAGTAT 0.423000 55 5 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480786 140480786 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140480786C>T uc003lio.3 + 0 553 c.553C>T c.(553-555)Cgt>Tgt p.R185C BC016751_uc003lin.3_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 185 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACTCGCAGTCGTAGGGACGG 0.542000 98 14 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140176515 140176515 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140176515G>A uc003lhd.2 + 0 2072 c.1966G>A c.(1966-1968)Gaa>Aaa p.E656K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E656K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E656K NM_018905 NP_061728 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA. 667 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACCACGGCGAACCAGCGTT 0.672000 106 6 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1443229 1443229 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:1443229C>T uc003jck.3 - 1 210 c.84G>A c.(82-84)gaG>gaA p.E28E NM_001044 NP_001035 Q01959 SC6A3_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA. 28 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) TGAGCTCCACCTCCTTCGGGC 0.632000 67 4 0 0 1 0 0 CAMK4 814 broad.mit.edu 37 5 110730439 110730439 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:110730439G>A uc003kpf.3 + 4 653 c.418G>A c.(418-420)Gat>Aat p.D140N CAMK4_uc010jbv.3_5'UTR NM_001744 NP_001735 Q16566 KCC4_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA. 140 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity p.R139*(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) CAGTGAGCGAGATGCTGCAGA 0.388000 56 4 0 0 1 0 0 LACTB2 51110 broad.mit.edu 37 8 71574071 71574071 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:71574071C>T uc003xyp.3 - 1 276 c.184G>A c.(184-186)Gct>Act p.A62T LOC286190_uc022avq.1_Non-coding_Transcript NM_016027 NP_057111 Q53H82 LACB2_HUMAN Homo sapiens lactamase, beta 2 (LACTB2), mRNA. 62 hydrolase activity|metal ion binding endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1) 10 Breast(64;0.0716) Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166) TCAGTTAGAGCCTGCTTTAAA 0.388000 90 10 0 0 1 0 0 CHRNA4 1137 broad.mit.edu 37 20 61982226 61982226 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:61982226G>A uc002yes.2 - 4 715 c.537C>T c.(535-537)ttC>ttT p.F179F CHRNA4_uc002yet.1_Silent_p.F3F|CHRNA4_uc010gke.1_Silent_p.F108F|CHRNA4_uc002yev.1_Silent_p.F3F|CHRNA4_uc010gkf.1_Silent_p.F3F NM_000744 NP_000735 P43681 ACHA4_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA. 179 B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) TCCAGGAGCCGAATTTCATGG 0.602000 134 14 0 0 1 0 0 AIPL1 23746 broad.mit.edu 37 17 6330369 6330369 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:6330369G>A uc002gcp.3 - 3 569 c.474C>T c.(472-474)gcC>gcT p.A158A AIPL1_uc021toq.1_Silent_p.A119A|AIPL1_uc002gcq.3_Silent_p.A98A|AIPL1_uc002gcr.3_Silent_p.A95A|AIPL1_uc010clk.3_Silent_p.A136A|AIPL1_uc010cll.3_Silent_p.A158A|AIPL1_uc021tor.1_Intron|AIPL1_uc002gcs.3_Silent_p.A158A NM_014336 NP_055151 Q9NZN9 AIPL1_HUMAN Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA. 158 protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 12 COAD - Colon adenocarcinoma(228;0.141) AATCACTCGGGGCATCAACCT 0.607000 117 13 0 0 1 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133930886 133930886 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:133930886C>T uc001lkx.4 + 1 441 c.441C>T c.(439-441)ttC>ttT p.F147F NM_001105521 NP_001098991 Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA. breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) AGAAGGGGTTCGAGGTGGAGA 0.627000 110 10 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150349133 150349133 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:150349133G>A uc010ntg.2 + 1 1216 c.1078G>A c.(1078-1080)Gaa>Aaa p.E360K NM_004224 NP_004215 Q13585 MTR1L_HUMAN Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA. 360 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) TGCTGTGGAGGAAACCCCGAT 0.632000 111 20 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55340883 55340883 + Silent SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:55340883C>A uc021vbm.1 + 6 1101 c.1068C>A c.(1066-1068)ctC>ctA p.L356L KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc010esf.3_Silent_p.L261L|KIR3DL2_uc021vbo.1_Silent_p.L339L|KIR3DL2_uc002qhk.4_Silent_p.L356L|KIR3DL2_uc002qhl.4_Intron NM_013289 NP_037421 P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA. 356 cellular defense response|regulation of immune response integral to plasma membrane receptor activity p.L356F(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) tcctcctcctcttctttctcc 0.522000 87 11 0.00010058 0.000101171 1 1 0 ZBTB7C 201501 broad.mit.edu 37 18 45566609 45566609 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:45566609C>T uc010dnv.3 - 2 1372 c.936G>A c.(934-936)aaG>aaA p.K312K ZBTB7C_uc002ldb.3_Silent_p.K290K|ZBTB7C_uc010dnu.3_Silent_p.K299K|ZBTB7C_uc010dnw.3_Silent_p.K290K|ZBTB7C_uc010dnx.1_Silent_p.K290K|ZBTB7C_uc010dny.1_Silent_p.K290K|ZBTB7C_uc010dnz.1_Silent_p.K312K|ZBTB7C_uc010doi.1_Silent_p.K290K|ZBTB7C_uc010doj.1_Silent_p.K299K|ZBTB7C_uc010dok.1_Silent_p.K339K|ZBTB7C_uc010dol.1_Silent_p.K299K|ZBTB7C_uc010doa.1_Silent_p.K312K|ZBTB7C_uc010dob.1_Silent_p.K290K|ZBTB7C_uc010doc.1_Silent_p.K299K|ZBTB7C_uc010dod.1_Silent_p.K312K|ZBTB7C_uc010doe.1_Silent_p.K290K|ZBTB7C_uc010dof.1_Silent_p.K290K|ZBTB7C_uc010dog.1_Silent_p.K290K|ZBTB7C_uc010doh.1_Silent_p.K299K|ZBTB7C_uc010dom.1_Silent_p.K299K|ZBTB7C_uc010don.1_Silent_p.K298K|ZBTB7C_uc010dop.1_Silent_p.K290K|ZBTB7C_uc010doq.1_Silent_p.K299K|ZBTB7C_uc010dor.1_Silent_p.K312K|ZBTB7C_uc010dos.1_Silent_p.K290K|ZBTB7C_uc010dot.1_Silent_p.K290K|ZBTB7C_uc010doo.1_Silent_p.K290K|ZBTB7C_uc010dou.1_Silent_p.K299K NM_001039360 NP_001034449 A1YPR0 ZBT7C_HUMAN Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA. 290 Pro-rich. intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 TCTCCTCCTCCTTGATCTTCC 0.622000 83 5 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158590148 158590148 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:158590148C>T uc001fst.1 - 43 6428 c.6229G>A c.(6229-6231)Gaa>Aaa p.E2077K NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 2077 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGCCGAATTTCATTCAGGGAG 0.473000 42 4 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15784425 15784425 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:15784425G>A uc002nbl.3 + 1 205 c.86G>A c.(85-87)tGg>tAg p.W29* CYP4F12_uc010xoo.2_Nonsense_Mutation_p.W29*|CYP4F12_uc010xop.2_Nonsense_Mutation_p.W29* NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GTGGGCTCCTGGCTACTCGCC 0.627000 152 18 0 0 1 0 0 ORAI1 84876 broad.mit.edu 37 12 122079087 122079087 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:122079087C>T uc021rff.1 + 1 643 c.450C>T c.(448-450)atC>atT p.I150I NM_032790 NP_116179 Q96D31 CRCM1_HUMAN Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA. 148 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) TGCCCAACATCGAGGCGGTGA 0.622000 87 5 0 0 1 0 0 STAC 6769 broad.mit.edu 37 3 36587747 36587747 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:36587747G>A uc003cgh.1 + 10 1214 c.1175G>A c.(1174-1176)gGc>gAc p.G392D STAC_uc011aya.1_Missense_Mutation_p.G331D NM_003149 NP_003140 Q99469 STAC_HUMAN Homo sapiens SH3 and cysteine rich domain (STAC), mRNA. 392 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 AAAAAGAAAGGCCTCATCCCC 0.443000 61 5 0 0 1 0 0 XXYLT1 152002 broad.mit.edu 37 3 194877306 194877306 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:194877306G>A uc003fum.4 - 2 765 c.657C>T c.(655-657)atC>atT p.I219I XXYLT1_uc003ful.3_Silent_p.I16I|XXYLT1_uc011bsw.1_Silent_p.I73I NM_152531 NP_689744 Q8NBI6 CC021_HUMAN Homo sapiens xyloside xylosyltransferase 1 (XXYLT1), mRNA. 219 integral to membrane transferase activity, transferring glycosyl groups TGATCTGCAGGATCTCTGCGG 0.522000 98 6 0 0 1 0 0 IGF2 3481 broad.mit.edu 37 11 2156695 2156695 + Missense_Mutation SNP G A A rs142012621 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:2156695G>A uc009yde.3 - 1 162 c.59C>T c.(58-60)tCg>tTg p.S20L IGF2_uc001lvf.3_5'Flank|IGF2_uc001lvg.3_Missense_Mutation_p.S20L|IGF2_uc009ydf.3_Missense_Mutation_p.S76L|IGF2_uc021qcb.1_Missense_Mutation_p.S20L|IGF2_uc001lvh.3_Missense_Mutation_p.S20L|IGF2_uc001lvi.3_Non-coding_Transcript|MIR483_uc021qcc.1_5'Flank|IGF2_uc001lvj.1_Non-coding_Transcript NM_001007139 NP_001007140 P01344 IGF2_HUMAN Homo sapiens insulin-like growth factor 2 (somatomedin A) (IGF2), transcript variant 2, mRNA. 20 glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of MAPKKK cascade|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) AATGCAGCACGAGGCGAAGGC 0.632000 73 5 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717043 13717043 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:13717043G>A uc001rbt.2 - 12 3308 c.3129C>T c.(3127-3129)tcC>tcT p.S1043S NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 1043 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CGCTCTTGAAGGAGAATTTGC 0.582000 37 4 0 0 1 0 0 WDR16 146845 broad.mit.edu 37 17 9538775 9538775 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:9538775G>A uc010coc.3 + 11 1633 c.1404G>A c.(1402-1404)aaG>aaA p.K468K WDR16_uc002gly.3_Silent_p.K458K|WDR16_uc002glz.3_Silent_p.K390K Q8N1V2 WDR16_HUMAN Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA. 458 cytoplasm|intracellular membrane-bounded organelle protein binding p.K458K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 AGGCCCTGAAGGAACACAAGT 0.532000 82 8 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45567101 45567101 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:45567101G>A uc010dnv.3 - 2 880 c.444C>T c.(442-444)atC>atT p.I148I ZBTB7C_uc002ldb.3_Silent_p.I126I|ZBTB7C_uc010dnu.3_Silent_p.I135I|ZBTB7C_uc010dnw.3_Silent_p.I126I|ZBTB7C_uc010dnx.1_Silent_p.I126I|ZBTB7C_uc010dny.1_Silent_p.I126I|ZBTB7C_uc010dnz.1_Silent_p.I148I|ZBTB7C_uc010doi.1_Silent_p.I126I|ZBTB7C_uc010doj.1_Silent_p.I135I|ZBTB7C_uc010dok.1_Silent_p.I175I|ZBTB7C_uc010dol.1_Silent_p.I135I|ZBTB7C_uc010doa.1_Silent_p.I148I|ZBTB7C_uc010dob.1_Silent_p.I126I|ZBTB7C_uc010doc.1_Silent_p.I135I|ZBTB7C_uc010dod.1_Silent_p.I148I|ZBTB7C_uc010doe.1_Silent_p.I126I|ZBTB7C_uc010dof.1_Silent_p.I126I|ZBTB7C_uc010dog.1_Silent_p.I126I|ZBTB7C_uc010doh.1_Silent_p.I135I|ZBTB7C_uc010dom.1_Silent_p.I135I|ZBTB7C_uc010don.1_Silent_p.I134I|ZBTB7C_uc010dop.1_Silent_p.I126I|ZBTB7C_uc010doq.1_Silent_p.I135I|ZBTB7C_uc010dor.1_Silent_p.I148I|ZBTB7C_uc010dos.1_Silent_p.I126I|ZBTB7C_uc010dot.1_Silent_p.I126I|ZBTB7C_uc010doo.1_Silent_p.I126I|ZBTB7C_uc010dou.1_Silent_p.I135I NM_001039360 NP_001034449 A1YPR0 ZBT7C_HUMAN Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA. 126 Asp-rich.|Glu-rich. intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 CAGGCTCCATGATCTCCAGGC 0.587000 32 5 0 0 1 0 0 OR1S2 219958 broad.mit.edu 37 11 57970729 57970729 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:57970729C>T uc010rkb.2 - 0 925 c.925G>A c.(925-927)Gat>Aat p.D309N NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA. 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) CCTTTCATATCCTTATTCCTC 0.428000 114 13 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128477266 128477266 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:128477266C>T uc003vnz.4 + 2 863 c.654C>T c.(652-654)gcC>gcT p.A218A FLNC_uc003voa.4_Silent_p.A218A NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 218 Actin-binding.|CH 2. A -> S (in Ref. 1; AAD12245 and 2; AAF68195). cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGGAGAACGCCCGGGAGGCCA 0.701000 30 3 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101603377 101603377 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:101603377T>C uc001thz.4 - 0 640 c.250A>G c.(250-252)Att>Gtt p.I84V NM_145913 NP_666018 Q8N695 SC5A8_HUMAN Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA. 84 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ATGCTAAAAATGGCCCCAAAA 0.567000 64 7 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10356177 10356177 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:10356177C>T uc002gmn.3 - 24 3295 c.3184G>A c.(3184-3186)Gac>Aac p.D1062N AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1062 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 AATTTTAGGTCACCCTCCAGT 0.338000 98 12 0 0 1 0 0 SLC22A11 55867 broad.mit.edu 37 11 64326684 64326684 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:64326684C>T uc001oai.3 + 1 845 c.471C>T c.(469-471)tcC>tcT p.S157S SLC22A11_uc001oah.1_Intron|SLC22A11_uc009ypq.3_Silent_p.S157S|SLC22A11_uc001oak.1_5'Flank NM_018484 NP_060954 Q9NSA0 S22AB_HUMAN Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA. 157 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) TGGTGGGCTCCTTTATCTGGG 0.602000 74 8 0 0 1 0 0 PIP5KL1 138429 broad.mit.edu 37 9 130688200 130688200 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:130688200G>A uc011mao.2 - 7 754 c.709C>T c.(709-711)Ccc>Tcc p.P237S PIP5KL1_uc004bsu.3_Missense_Mutation_p.P34S NM_001135219 NP_001128691 Q5T9C9 PI5L1_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase-like 1 (PIP5KL1), transcript variant 1, mRNA. 237 PIPK. cytoplasm|membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1) 8 AGAACAAGGGGGCTGCCCTCA 0.582000 82 23 0 0 1 0 0 OR52N5 390075 broad.mit.edu 37 11 5798961 5798961 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:5798961A>G uc010qzn.2 - 0 937 c.904T>C c.(904-906)Tat>Cat p.Y302H TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001001922 NP_001001922 Q8NH56 O52N5_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA. 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) TTTACTCCATAAACAATAGGG 0.423000 42 4 0 0 1 0 0 PROL1 58503 broad.mit.edu 37 4 71275788 71275788 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:71275788G>A uc003hfi.3 + 2 917 c.743G>A c.(742-744)gGt>gAt p.G248D NM_021225 NP_067048 Q99935 PROL1_HUMAN Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA. 248 regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) GCCATTTTTGGTTGAACATGC 0.368000 35 7 0 0 1 0 0 PDHA2 5161 broad.mit.edu 37 4 96762131 96762131 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:96762131C>T uc003htr.4 + 0 893 c.830C>T c.(829-831)cCc>cTc p.P277L NM_005390 NP_005381 P29803 ODPAT_HUMAN Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA. 277 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GGAAAGGGGCCCATACTGATG 0.448000 72 6 0 0 1 0 0 CDX2 1045 broad.mit.edu 37 13 28543051 28543051 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:28543051G>A uc001urv.3 - 0 267 c.93C>T c.(91-93)ttC>ttT p.F31F NM_001265 NP_001256 Q99626 CDX2_HUMAN Homo sapiens caudal type homeobox 2 (CDX2), mRNA. 31 organ morphogenesis|transcription from RNA polymerase II promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(1)|lung(6) 9 all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199) GGGGGCTGACGAAGTTCTGCG 0.672000 T ETV6 AML 21 3 0 0 1 0 0 OR13C2 392376 broad.mit.edu 37 9 107367195 107367195 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:107367195G>A uc011lvq.2 - 0 714 c.714C>T c.(712-714)tcC>tcT p.S238S NM_001004481 NP_001004481 Q8NGS9 O13C2_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA. 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 AACAGGTAGAGGAAGCTTTGC 0.403000 45 7 0 0 1 0 0 PIP5KL1 138429 broad.mit.edu 37 9 130687429 130687429 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:130687429C>T uc011mao.2 - 8 919 c.874G>A c.(874-876)Gat>Aat p.D292N PIP5KL1_uc004bsu.3_Missense_Mutation_p.D89N NM_001135219 NP_001128691 Q5T9C9 PI5L1_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase-like 1 (PIP5KL1), transcript variant 1, mRNA. 292 PIPK. cytoplasm|membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1) 8 CCCCTCTCATCCTCGTGGAGA 0.602000 109 9 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28465727 28465727 + Missense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:28465727C>A uc001zbj.3 - 36 5822 c.5716G>T c.(5716-5718)Gtc>Ttc p.V1906F NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 1906 MIB/HERC2. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TCCCACTGGACTCTTATCCAT 0.582000 150 16 3.99206e-14 4.04237e-14 1 1 0 ATP2A2 488 broad.mit.edu 37 12 110778504 110778504 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:110778504C>T uc001tqk.4 + 13 2365 c.1802C>T c.(1801-1803)cCt>cTt p.P601L ATP2A2_uc001tql.4_Missense_Mutation_p.P601L|ATP2A2_uc021rdt.1_Missense_Mutation_p.P449L NM_170665 NP_733765 P16615 AT2A2_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA. 601 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 ATGCTGGATCCTCCGAGAATC 0.517000 211 15 0 0 1 0 0 CNN1 1264 broad.mit.edu 37 19 11651946 11651947 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:11651946_11651947GG>AA uc002msc.1 + 1 283_284 c.119_120GG>AA c.(118-120)ggg>gAA p.G40E CNN1_uc010xmb.1_5'UTR|CNN1_uc010xmc.1_5'UTR NM_001299 NP_001290 P51911 CNN1_HUMAN Homo sapiens calponin 1, basic, smooth muscle (CNN1), mRNA. 40 CH. actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding breast(1)|endometrium(2)|large_intestine(4)|lung(2) 9 TGGATCGAGGGGGTGACAGGCC 0.609000 34 8 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228169719 228169719 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:228169719G>A uc002vom.2 + 46 4334 c.4172G>A c.(4171-4173)gGt>gAt p.G1391D BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron|COL4A3_uc010fxf.2_5'Flank|COL4A3_uc021vxt.1_5'Flank NM_000091 NP_000082 Q01955 CO4A3_HUMAN Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA. 1391 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGGCCAAGAGGTAAGCCAGGC 0.478000 23 4 0 0 1 0 0 HOXB1 3211 broad.mit.edu 37 17 46607085 46607085 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:46607085C>T uc002ink.1 - 1 736 c.730G>A c.(730-732)Gaa>Aaa p.E244K HOXB1_uc021tzf.1_3'UTR NM_002144 NP_002135 P14653 HXB1_HUMAN Homo sapiens homeobox B1 (HOXB1), mRNA. 244 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 ACCTGTGTTTCATTGAGCTCC 0.582000 300 27 0 0 1 0 0 MDH2 4191 broad.mit.edu 37 7 75693679 75693679 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:75693679C>T uc003ueo.3 + 6 742 c.656C>T c.(655-657)cCc>cTc p.P219L MDH2_uc011kgh.2_Missense_Mutation_p.P177L|MDH2_uc003uep.3_Missense_Mutation_p.P112L NM_005918 NP_005909 P40926 MDHM_HUMAN Homo sapiens malate dehydrogenase 2, NAD (mitochondrial) (MDH2), nuclear gene encoding mitochondrial protein, mRNA. 219 gluconeogenesis|malate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus|plasma membrane L-malate dehydrogenase activity|binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2) 14 NADH(DB00157) GTGGACTTTCCCCAGGACCAG 0.647000 40 4 0 0 1 0 0 PKP1 5317 broad.mit.edu 37 1 201263115 201263115 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:201263115C>T uc001gwd.3 + 1 499 c.248C>T c.(247-249)aCc>aTc p.T83I PKP1_uc001gwe.3_Missense_Mutation_p.T83I|PKP1_uc009wzm.3_5'UTR NM_000299 NP_000290 Q13835 PKP1_HUMAN Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA. 83 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 TATGGGACCACCAGCAGGAGC 0.512000 39 3 0 0 1 0 0 MOGAT2 80168 broad.mit.edu 37 11 75440017 75440017 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:75440017G>A uc010rru.2 + 4 833 c.833G>A c.(832-834)cGg>cAg p.R278Q MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.2_Missense_Mutation_p.R196Q NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA. 278 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) CCCTACCGCCGGCCCATCACC 0.562000 108 8 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138603198 138603198 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:138603198C>T uc011kql.2 - 1 1223 c.1174G>A c.(1174-1176)Gaa>Aaa p.E392K KIAA1549_uc011kqj.2_Missense_Mutation_p.E392K NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 392 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CTATGCAATTCGGATGTTTTG 0.512000 O BRAF pilocytic astrocytoma 87 10 0 0 1 0 0 PHF21B 112885 broad.mit.edu 37 22 45309722 45309722 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:45309722G>A uc003bfn.3 - 4 962 c.811C>T c.(811-813)Ccg>Tcg p.P271S PHF21B_uc011aqk.2_Missense_Mutation_p.P217S|PHF21B_uc003bfm.3_Missense_Mutation_p.P67S|PHF21B_uc011aql.2_Missense_Mutation_p.P229S|PHF21B_uc011aqm.1_Missense_Mutation_p.P217S NM_138415 NP_612424 Q96EK2 PF21B_HUMAN Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA. 271 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) TCCTGGGTCGGGGGCCGGTCT 0.662000 67 15 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47991372 47991372 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:47991372A>G uc002xur.1 - 1 891 c.725T>C c.(724-726)aTg>aCg p.M242T KCNB1_uc002xus.1_Missense_Mutation_p.M242T NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 242 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CAGGTACTCCATGGTGAACCA 0.567000 67 6 0 0 1 0 0 GRK1 6011 broad.mit.edu 37 13 114321934 114321934 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:114321934C>T uc010tkf.2 + 0 338 c.233C>T c.(232-234)tCg>tTg p.S78L NM_002929 NP_002920 Q15835 RK_HUMAN Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA. 78 N-terminal.|RGS. regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) TTCCTACAATCGGCAGAGAAG 0.577000 69 10 0 0 1 0 0 RP11-165H20.1 149620 broad.mit.edu 37 1 111826748 111826748 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:111826748C>T uc009wgb.3 + 5 c.1432C>T Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA. ATGTTGGATTCCCAGCCTATG 0.542000 26 4 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56098188 56098188 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:56098188T>C uc010giw.1 - 2 801 c.690A>G c.(688-690)caA>caG p.Q230Q CTCFL_uc010gix.1_Silent_p.Q230Q|CTCFL_uc002xym.2_Silent_p.Q230Q|CTCFL_uc010gjb.1_Silent_p.Q230Q|CTCFL_uc010gja.1_Silent_p.Q230Q|CTCFL_uc010gjc.1_Silent_p.Q230Q|CTCFL_uc010gjd.1_Silent_p.Q230Q|CTCFL_uc010gje.3_Silent_p.Q230Q|CTCFL_uc010gjg.3_Intron|CTCFL_uc010gjf.3_Silent_p.Q25Q|CTCFL_uc010gjh.2_Silent_p.Q230Q|CTCFL_uc010gji.2_Silent_p.Q25Q|CTCFL_uc010gjj.2_Silent_p.Q230Q|CTCFL_uc021wfe.1_Silent_p.Q230Q|CTCFL_uc021wff.1_Intron|CTCFL_uc021wfg.1_Intron|CTCFL_uc010gjk.1_Silent_p.Q230Q|CTCFL_uc010gjl.1_Silent_p.Q230Q NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA. 230 DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CAGCTGTAGGTTGATCCTCTT 0.393000 169 11 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43173647 43173647 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:43173647G>A uc003xpz.1 + 8 1112 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K POTEA_uc003xqa.1_Missense_Mutation_p.E311K NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA. 357 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GGGATTATCAGAAAACCTGAC 0.378000 101 8 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93836151 93836151 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:93836151C>T uc001pep.2 + 14 2804 c.2647C>T c.(2647-2649)Cca>Tca p.P883S AF086184_uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 883 Plastocyanin-like 5. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CAATTGTATTCCATGGGTTTA 0.348000 59 5 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51901477 51901477 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:51901477G>A uc002iua.2 + 0 1239 c.1083G>A c.(1081-1083)ggG>ggA p.G361G KIF2B_uc010wna.1_Non-coding_Transcript NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN Homo sapiens kinesin family member 2B (KIF2B), mRNA. 361 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.G361G(2)|p.G361E(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AGATTTATGGGGGCAAGGTGT 0.463000 89 8 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3686412 3686412 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:3686412C>T uc002wja.3 - 2 685 c.685G>A c.(685-687)Gag>Aag p.E229K SIGLEC1_uc002wiz.4_Missense_Mutation_p.E229K|SIGLEC1_uc002wjc.3_Missense_Mutation_p.E140K NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 229 Ig-like C2-type 1. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 AGGTGAATCTCGCTCTGAGCC 0.622000 108 17 0 0 1 0 0 CACNG6 59285 broad.mit.edu 37 19 54515271 54515271 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:54515271G>A uc002qct.3 + 3 1201 c.611G>A c.(610-612)aGc>aAc p.S204N CACNG6_uc002qcu.3_Missense_Mutation_p.S158N|CACNG6_uc002qcv.3_Missense_Mutation_p.S133N NM_145814 NP_665813 Q9BXT2 CCG6_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA. 204 voltage-gated calcium channel complex voltage-gated calcium channel activity p.V203A(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) CAGAGAGTCAGCCCGGAGCCT 0.706000 75 18 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248730 20248730 + Silent SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:20248730A>T uc010tku.2 + 0 249 c.249A>T c.(247-249)atA>atT p.I83I NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA. 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AAATGCTCATAGACTTCTTTG 0.448000 211 23 0 0 1 0 0 TCF12 6938 broad.mit.edu 37 15 57543590 57543590 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:57543590C>T uc002aec.3 + 13 1441 c.1157C>T c.(1156-1158)tCc>tTc p.S386F TCF12_uc010ugm.1_Missense_Mutation_p.S438F|TCF12_uc010ugn.1_Missense_Mutation_p.S382F|TCF12_uc002aea.3_Missense_Mutation_p.S386F|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Missense_Mutation_p.S386F|TCF12_uc002aed.3_Missense_Mutation_p.S386F|TCF12_uc010ugo.2_Missense_Mutation_p.S150F|TCF12_uc002aee.3_Missense_Mutation_p.S216F|TCF12_uc010bft.3_Missense_Mutation_p.S216F|TCF12_uc010ugp.2_Missense_Mutation_p.S20F|TCF12_uc010ugq.2_Missense_Mutation_p.S20F|TCF12_uc010ugr.1_5'Flank NM_207038 NP_996921 Q99081 HTF4_HUMAN Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA. 386 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.S386S(1) TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) GCACCTTCATCCCCAAGCTAT 0.438000 T TEC extraskeletal myxoid chondrosarcoma 40 3 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140348599 140348599 + Missense_Mutation SNP G A A rs141580195 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140348599G>A uc003lii.3 + 0 2853 c.2248G>A c.(2248-2250)Gaa>Aaa p.E750K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.E750K NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA. 750 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAGTAAGGGAAAGGTCCCC 0.458000 70 4 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152276186 152276186 + Missense_Mutation SNP G A A rs145171931 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:152276186G>A uc001ezu.1 - 2 11212 c.11176C>T c.(11176-11178)Cgg>Tgg p.R3726W NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3726 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCCCAGCCCGTCCATGGGCA 0.607000 Ichthyosis 316 14 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 141016329 141016329 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:141016329C>T uc004cog.3 + 45 7037 c.6892C>T c.(6892-6894)Ctg>Ttg p.L2298L CACNA1B_uc022bqn.1_Silent_p.P2235P|CACNA1B_uc004coi.3_Silent_p.L1512L NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 2300 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CGTGTCCTCCCTGACCTCCCA 0.662000 140 15 0 0 1 0 0 OTOL1 131149 broad.mit.edu 37 3 161216977 161216977 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:161216977G>A uc011bpb.2 + 1 383 c.383G>A c.(382-384)gGa>gAa p.G128E NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN Homo sapiens otolin 1 (OTOL1), mRNA. 128 Collagen-like 1. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 GGAGAGGCTGGAAATTTGGGG 0.393000 10 3 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142178392 142178392 + Missense_Mutation SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:142178392A>C uc003yvy.3 + 12 2081 c.1803A>C c.(1801-1803)gaA>gaC p.E601D DENND3_uc010mep.3_Missense_Mutation_p.E562D|DENND3_uc003yvz.1_Missense_Mutation_p.E285D NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 601 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GGACGGTGGAATCCATGTCTG 0.572000 124 13 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389984 150389984 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:150389984G>A uc003who.3 + 2 698 c.610G>A c.(610-612)Gat>Aat p.D204N NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA. 204 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGTATTGAGGATCTGTTGAT 0.453000 179 6 0 0 1 0 0 PHTF1 10745 broad.mit.edu 37 1 114280858 114280858 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:114280858G>A uc009wgp.1 - 3 657 c.205C>T c.(205-207)Cca>Tca p.P69S PHTF1_uc001edn.3_Missense_Mutation_p.P69S NM_006608 NP_006599 Q9UMS5 PHTF1_HUMAN Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA. 69 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGTCCATGGAATTTCAGGT 0.373000 69 12 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126372585 126372585 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:126372585A>G uc003ifj.4 + 8 10414 c.10414A>G c.(10414-10416)Acc>Gcc p.T3472A FAT4_uc011cgp.2_Missense_Mutation_p.T1770A|FAT4_uc003ifi.1_Missense_Mutation_p.T950A NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 3472 Cadherin 33. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGATCGAGAAACCCTTCCCAT 0.433000 62 7 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70949651 70949651 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:70949651G>A uc001swb.4 - 17 4369 c.4339_splice c.e17+1 p.R1447_splice PTPRB_uc010sto.2_Splice_Site_p.R1357_splice|PTPRB_uc010stp.2_Splice_Site_p.R1357_splice|PTPRB_uc001swc.4_Splice_Site_p.R1665_splice|PTPRB_uc001swa.4_Splice_Site_p.R1577_splice NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1447 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GACACTTACGGTCTATCATTG 0.522000 21 5 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390814 197390814 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:197390814G>A uc001gtz.3 + 5 2065 c.1856G>A c.(1855-1857)gGa>gAa p.G619E CRB1_uc010poz.2_Missense_Mutation_p.G550E|CRB1_uc009wza.3_Missense_Mutation_p.G507E|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Missense_Mutation_p.G619E|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.G100E|CRB1_uc001gub.1_Missense_Mutation_p.G268E NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 619 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTACCAGTGGGAATGACCAGC 0.418000 122 14 0 0 1 0 0 PRKAR1B 5575 broad.mit.edu 37 7 751023 751023 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:751023G>A uc003siu.2 - 1 253 c.120C>T c.(118-120)atC>atT p.I40I PRKAR1B_uc021zyi.1_Silent_p.I40I|PRKAR1B_uc003siv.3_Silent_p.I40I|PRKAR1B_uc021zyj.1_Silent_p.I40I|PRKAR1B_uc021zyk.1_Silent_p.I40I|PRKAR1B_uc003siw.2_Silent_p.I40I NM_002735 NP_002726 P31321 KAP1_HUMAN Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA. 40 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1) 17 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) CGGGCTTGGAGATGCAGAGGT 0.637000 129 12 0 0 1 0 0 TSGA13 114960 broad.mit.edu 37 7 130363994 130363994 + Splice_Site SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:130363994A>G uc003vqi.3 - 5 844 c.387_splice c.e5+1 p.M129_splice TSGA13_uc003vqj.3_Splice_Site_p.M129_splice NM_052933 NP_443165 Q96PP4 TSG13_HUMAN Homo sapiens testis specific, 13 (TSGA13), mRNA. 129 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(18;0.0435) TCTGCTTACCATGACCTTGAG 0.428000 108 27 0 0 1 0 0 AK302694 0 broad.mit.edu 37 10 30998294 30998294 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:30998294C>T uc010qdx.1 + 7 1382 c.840C>T c.(838-840)gcC>gcT p.A280A SubName: Full=cDNA FLJ59642, highly similar to Supervillin; ATTTCGCAGCCACGGAGTTCG 0.557000 65 9 0 0 1 0 0 KIF9 64147 broad.mit.edu 37 3 47284733 47284733 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:47284733G>A uc010hjp.3 - 16 2121 c.1517C>T c.(1516-1518)tCc>tTc p.S506F KIF9_uc003cqx.3_Missense_Mutation_p.S506F|KIF9_uc003cqy.3_Intron|KIF9_uc011bat.1_Intron|FLJ39534_uc003cqw.2_Non-coding_Transcript NM_001134878 NP_878905 Q9HAQ2 KIF9_HUMAN Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA. 506 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TCTTGCCAAGGAGCTGGAAGA 0.542000 19 3 0 0 1 0 0 MSRB3 253827 broad.mit.edu 37 12 65722340 65722340 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:65722340C>T uc001ssn.3 + 2 367 c.241C>T c.(241-243)Cct>Tct p.P81S MSRB3_uc009zqp.3_Missense_Mutation_p.P74S|MSRB3_uc001ssm.3_Missense_Mutation_p.P74S|MSRB3_uc021qzy.1_Missense_Mutation_p.P74S NM_198080 NP_932346 Q8IXL7 MSRB3_HUMAN Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA. 81 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) TCACAAAGATCCTGGAATATA 0.308000 75 10 0 0 1 0 0 SLC6A7 6534 broad.mit.edu 37 5 149583553 149583553 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:149583553G>A uc003lrr.3 + 9 1655 c.1284G>A c.(1282-1284)ggG>ggA p.G428G NM_014228 NP_055043 Q99884 SC6A7_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA. 428 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) TGTTCTCAGGGCTCATCTGCG 0.587000 26 4 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68526136 68526136 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:68526136G>A uc009xpn.1 - 8 1290 c.1167C>T c.(1165-1167)ttC>ttT p.F389F CTNNA3_uc001jmw.2_Silent_p.F389F|CTNNA3_uc001jmx.4_Silent_p.F389F NM_001127384 NP_037398 Q9UI47 CTNA3_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA. 389 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TCGTATCCAGGAAAGAGTCTG 0.388000 41 9 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24324428 24324428 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:24324428C>T uc003xeb.3 + 5 619 c.506C>T c.(505-507)tCc>tTc p.S169F ADAM7_uc003xea.1_Missense_Mutation_p.S169F NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 169 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GCCAATTATTCCTGTACAGAG 0.373000 123 5 0 0 1 0 0 TNFRSF10C 8794 broad.mit.edu 37 8 22972231 22972231 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:22972231C>T uc003xcy.3 + 2 536 c.228C>T c.(226-228)acC>acT p.T76T TNFRSF10C_uc011kzr.2_Non-coding_Transcript NM_003841 NP_003832 O14798 TR10C_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA. 76 apoptosis anchored to membrane|integral to plasma membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) TGGATTACACCAACGCTTCCA 0.483000 141 17 0 0 1 0 0 PHF23 79142 broad.mit.edu 37 17 7139346 7139346 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:7139346G>A uc002gfa.3 - 3 1127 c.900C>T c.(898-900)agC>agT p.S300S DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Silent_p.S233S|PHF23_uc010cma.3_Silent_p.S170S NM_024297 NP_077273 Q9BUL5 PHF23_HUMAN Homo sapiens PHD finger protein 23 (PHF23), mRNA. 300 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 CCACCTCCTTGCTTTCACTGT 0.602000 293 34 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87037538 87037538 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:87037538C>T uc003uiv.1 - 24 3170 c.3094G>A c.(3094-3096)Gga>Aga p.G1032R ABCB4_uc003uiw.1_Missense_Mutation_p.G1032R|ABCB4_uc003uix.1_Missense_Mutation_p.G985R NM_018849 NP_061337 P21439 MDR3_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA. 1032 cellular lipid metabolic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GTTATATTTCCTTCAAATTTA 0.368000 44 8 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038462 75038462 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:75038462C>T uc001dgg.3 - 13 3151 c.2932G>A c.(2932-2934)Gag>Aag p.E978K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 978 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GCTGGTTCCTCTCCCCCAAGA 0.527000 55 10 0 0 1 0 0 TMEM161A 54929 broad.mit.edu 37 19 19243266 19243266 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:19243266G>A uc002nlg.3 - 4 368 c.338C>T c.(337-339)tCg>tTg p.S113L TMEM161A_uc002nli.3_Intron NM_017814 NP_060284 Q9NX61 T161A_HUMAN Homo sapiens transmembrane protein 161A (TMEM161A), mRNA. 113 cellular response to UV|cellular response to oxidative stress|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011) CACGCCGCCCGAGTACACAGC 0.597000 184 22 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111474497 111474497 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:111474497A>G uc003iab.4 + 17 2870 c.2528A>G c.(2527-2529)aAc>aGc p.N843S NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 843 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) AAGGACACGAACCTTATTAAA 0.363000 76 5 0 0 1 0 0 RDH11 51109 broad.mit.edu 37 14 68157131 68157131 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:68157131G>A uc001xjv.4 - 4 552 c.462C>T c.(460-462)ttC>ttT p.F154F RDH11_uc001xjx.4_Intron|RDH11_uc001xjw.4_Silent_p.F141F NM_016026 NP_057110 Q8TC12 RDH11_HUMAN Homo sapiens retinol dehydrogenase 11 (all-trans/9-cis/11-cis) (RDH11), transcript variant 1, mRNA. 154 retinol metabolic process|steroid metabolic process endoplasmic reticulum membrane|integral to membrane NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1) 12 all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924) Vitamin A(DB00162) GGGTTAGGAGGAAGTGACCTG 0.478000 111 7 0 0 1 0 0 CDH15 1013 broad.mit.edu 37 16 89254618 89254618 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:89254618G>A uc002fmt.3 + 6 980 c.903G>A c.(901-903)ctG>ctA p.L301L NM_004933 NP_004924 P55291 CAD15_HUMAN Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA. 301 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) TCACCATCCTGGAAGGCGACC 0.642000 29 3 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37681010 37681010 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:37681010C>T uc010cvv.3 + 11 3765 c.3179C>T c.(3178-3180)cCa>cTa p.P1060L CDK12_uc010wef.1_Missense_Mutation_p.P1059L|CDK12_uc002hrw.4_Missense_Mutation_p.P1060L NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA. 1060 RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 GTCGAAGAGCCACCTCCATCC 0.532000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 116 11 0 0 1 0 0 DSPP 1834 broad.mit.edu 37 4 88535103 88535103 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:88535103C>T uc003hqu.3 + 4 1409 c.1289C>T c.(1288-1290)tCa>tTa p.S430L NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN Homo sapiens dentin sialophosphoprotein (DSPP), mRNA. 430 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) GGCCAAAAATCAGAACCAGGA 0.408000 45 8 0 0 1 0 0 SLC12A3 6559 broad.mit.edu 37 16 56904115 56904115 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:56904115G>A uc002ekd.4 + 4 738 c.709G>A c.(709-711)Ggc>Agc p.G237S SLC12A3_uc010ccm.3_Missense_Mutation_p.G237S|SLC12A3_uc010ccn.3_Missense_Mutation_p.G236S NM_000339 NP_000330 P55017 S12A3_HUMAN Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA. 237 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GCACACGGTGGGCTTTGCAGA 0.657000 55 4 0 0 1 0 0 RBP5 83758 broad.mit.edu 37 12 7276770 7276770 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:7276770C>T uc001qsq.3 - 4 450 c.355_splice c.e4-1 p.E119_splice NM_031491 NP_113679 P82980 RET5_HUMAN Homo sapiens retinol binding protein 5, cellular (RBP5), mRNA. 119 cytoplasm retinal binding|retinol binding|transporter activity autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1) 10 Vitamin A(DB00162) GCAGTCAGTTCCTGGGGAGAG 0.577000 67 6 0 0 1 0 0 BEND4 389206 broad.mit.edu 37 4 42145696 42145696 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:42145696G>A uc003gwn.3 - 2 1383 c.803C>T c.(802-804)tCg>tTg p.S268L BEND4_uc003gwm.3_Missense_Mutation_p.S268L|BEND4_uc011byy.1_Missense_Mutation_p.S268L NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA. 268 NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 ACTGGCTGACGAGGGGTTTGG 0.493000 42 4 0 0 1 0 0 KIAA0913 23053 broad.mit.edu 37 10 75552346 75552346 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:75552346A>G uc001jvj.3 + 9 2304 c.2049A>G c.(2047-2049)acA>acG p.T683T KIAA0913_uc001jve.3_Silent_p.T683T|KIAA0913_uc009xrl.3_Silent_p.T683T|KIAA0913_uc001jvf.3_Silent_p.T683T|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Silent_p.T106T|KIAA0913_uc010qkr.2_Silent_p.T106T NM_001242488 NP_001229417 A7E2V4 K0913_HUMAN Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA. 683 zinc ion binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6) 19 Prostate(51;0.0112) AGCCTCCCACAGCCTCTGTTG 0.582000 62 4 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 67726433 67726433 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:67726433C>T uc009xpn.1 - 16 2460 c.2337G>A c.(2335-2337)ctG>ctA p.L779L CTNNA3_uc001jmw.2_Silent_p.L779L NM_001127384 NP_037398 Q9UI47 CTNA3_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA. 779 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TGCAGATTTTCAGTTGGTGGG 0.428000 70 4 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20486981 20486981 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:20486981C>T uc010bwe.3 + 8 1223 c.984C>T c.(982-984)ttC>ttT p.F328F ACSM2A_uc010vax.1_Silent_p.F249F|ACSM2A_uc002dhf.4_Silent_p.F328F|ACSM2A_uc002dhg.4_Silent_p.F328F|ACSM2A_uc010vay.2_Silent_p.F249F|ACSM2A_uc002dhh.4_5'UTR NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA. 328 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GTTACAAGTTCCCCCATCTAC 0.512000 112 9 0 0 1 0 0 ZNF251 90987 broad.mit.edu 37 8 145948186 145948186 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:145948186G>A uc003zdv.4 - 4 1115 c.859C>T c.(859-861)Cac>Tac p.H287Y NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN Homo sapiens zinc finger protein 251 (ZNF251), mRNA. 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) TCTCCAGTGTGAATTCTCCGA 0.433000 80 8 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152534673 152534673 + Missense_Mutation SNP G C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:152534673G>C uc021vrb.1 - 30 3313 c.3284C>G c.(3283-3285)gCt>gGt p.A1095G NEB_uc002txu.3_Missense_Mutation_p.A1095G|NEB_uc021vrc.1_Missense_Mutation_p.A1095G|NEB_uc010fnx.3_Missense_Mutation_p.A1095G|NEB_uc021vrd.1_Missense_Mutation_p.A1095G NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 1095 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle p.K1094N(1) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTTCCCTTTAGCCTTTTCATA 0.358000 25 4 0 0 1 0 0 PTCD3 55037 broad.mit.edu 37 2 86355108 86355108 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:86355108C>T uc002sqw.2 + 13 1207 c.1141C>T c.(1141-1143)Caa>Taa p.Q381* PTCD3_uc002sqx.1_5'UTR NM_017952 NP_060422 Q96EY7 PTCD3_HUMAN Homo sapiens Pentatricopeptide repeat domain 3 (PTCD3), nuclear gene encoding mitochondrial protein, mRNA. 381 mitochondrion protein binding NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 22 CCTGTTTGATCAACCTGGTAT 0.338000 149 13 0 0 1 0 0 MSTN 2660 broad.mit.edu 37 2 190924966 190924966 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:190924966C>T uc002urp.3 - 1 702 c.569G>A c.(568-570)cGa>cAa p.R190Q NM_005259 NP_005250 O14793 GDF8_HUMAN Homo sapiens myostatin (MSTN), mRNA. 190 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) TTTCAGAGATCGGATTCCAGT 0.428000 102 14 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140481408 140481408 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:140481408G>A uc003vwc.4 - 10 1461 c.1400C>T c.(1399-1401)tCa>tTa p.S467L NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 467 Protein kinase. S -> A (in CFC syndrome). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.G466V(20)|p.G466E(7)|p.G466A(4)|p.G466R(3)|p.S467L(2) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TGTTCCAAATGATCCAGATCC 0.383000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 163 31 0 0 1 0 0 CYP17A1 1586 broad.mit.edu 37 10 104593873 104593873 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:104593873G>A uc001kwg.3 - 3 845 c.673C>T c.(673-675)Ccc>Tcc p.P225S NM_000102 NP_000093 P05093 CP17A_HUMAN Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA. 225 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) GTTTTGTTGGGGAAAATCTGG 0.383000 28 4 0 0 1 0 0 RDH8 50700 broad.mit.edu 37 19 10129507 10129507 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:10129507C>T uc002mmr.3 + 2 612 c.363C>T c.(361-363)ctC>ctT p.L121L NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA. 121 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) CTGTCCGTCTCGTCAAAGCTG 0.592000 105 11 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2817437 2817437 + Missense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:2817437C>A uc002crk.3 + 10 7457 c.6908C>A c.(6907-6909)cCa>cAa p.P2303Q SRRM2_uc002crj.1_Missense_Mutation_p.P2207Q|SRRM2_uc002crl.1_Missense_Mutation_p.P2303Q|SRRM2_uc010bsu.1_Missense_Mutation_p.P2207Q NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 2303 Ala-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus 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 GCCAGAACCCCAGCTGCCTTG 0.627000 308 34 6.45866e-13 6.53669e-13 1 1 0 MGAM 8972 broad.mit.edu 37 7 141794428 141794428 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141794428G>A uc003vwy.3 + 38 4681 c.4627G>A c.(4627-4629)Gag>Aag p.E1543K NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1543 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGGCATGATGGAGTTCAGCCT 0.547000 74 11 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228886431 228886431 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:228886431C>T uc002vpq.2 - 5 740 c.693G>A c.(691-693)agG>agA p.R231R SPHKAP_uc002vpp.2_Silent_p.R231R|SPHKAP_uc010zlx.1_Silent_p.R231R NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 231 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TCTCACCGTTCCTAGATTCAT 0.453000 52 5 0 0 1 0 0 APOC4 346 broad.mit.edu 37 19 45448490 45448490 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:45448490C>T uc002pah.3 + 2 c.352C>T NM_001646 P55056 APOC4_HUMAN Homo sapiens apolipoprotein C-IV (APOC4), mRNA. lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis high-density lipoprotein particle|very-low-density lipoprotein particle lipid transporter activity breast(1)|endometrium(1)|lung(2) 4 Lung NSC(12;0.00858)|all_lung(12;0.0197) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178) TCCTCGAATCCAAAGACAGCC 0.567000 356 52 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40421295 40421295 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:40421295C>T uc002omp.4 - 4 2634 c.2626G>A c.(2626-2628)Gac>Aac p.D876N NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 876 VWFD 2. extracellular region protein binding p.D876D(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CGCCGGCCGTCGAAGCTCACA 0.677000 6 4 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57188335 57188335 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:57188335G>A uc010kzo.3 - 4 1058 c.787C>T c.(787-789)Cat>Tat p.H263Y NM_033273 NP_150376 Q96JC4 ZN479_HUMAN Homo sapiens zinc finger protein 479 (ZNF479), mRNA. 263 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H263Q(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TCTCCAGTATGAGTTCTCTTA 0.428000 28 3 0 0 1 0 0 MGMT 4255 broad.mit.edu 37 10 131506165 131506165 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:131506165G>A uc001lkh.2 + 2 251 c.225G>A c.(223-225)gtG>gtA p.V75V NM_002412 NP_002403 B4DEE8 B4DEE8_HUMAN Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA. 75 breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) GCAGTGCCGTGGAGGTCCCAG 0.587000 Direct reversal of damage 62 9 0 0 1 0 0 FAM211B 388886 broad.mit.edu 37 22 24985893 24985893 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:24985893G>A uc003aaq.2 - 1 231 c.202C>T c.(202-204)Ctt>Ttt p.L68F GGT1_uc003aan.1_Intron|FAM211B_uc003aao.2_5'Flank NM_207644 NP_997527 Q2VPJ9 LRC6X_HUMAN Homo sapiens family with sequence similarity 211, member B (FAM211B), mRNA. 68 ATATCAGGAAGGAGGGTCCTC 0.607000 23 3 0 0 1 0 0 FAM26E 254228 broad.mit.edu 37 6 116836885 116836885 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:116836885G>A uc003pwy.3 + 1 715 c.663G>A c.(661-663)aaG>aaA p.K221K BET3L_uc011ebh.2_Intron NM_153711 NP_714922 Q8N5C1 FA26E_HUMAN Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA. 221 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212) ATGCACAAAAGGAGAAGGAGC 0.433000 61 6 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81211533 81211533 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:81211533G>A uc002fgh.1 - 13 2316 c.2316C>T c.(2314-2316)ccC>ccT p.P772P PKD1L2_uc002fgg.1_Non-coding_Transcript|PKD1L2_uc002fgi.3_Silent_p.P87P|PKD1L2_uc002fgj.3_Silent_p.P772P|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Intron NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 772 REJ. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GCACCTCACGGGGAGGCACAG 0.612000 83 5 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157545494 157545494 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:157545494C>T uc001fqw.3 - 10 1592 c.1456G>A c.(1456-1458)Gat>Aat p.D486N FCRL4_uc010phy.2_Non-coding_Transcript NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Homo sapiens Fc receptor-like 4 (FCRL4), mRNA. 486 integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) CTCACCTTATCCTCTAGAAGT 0.458000 144 6 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39553645 39553645 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:39553645C>T uc002hwn.3 - 0 200 c.147G>A c.(145-147)gaG>gaA p.E49E KRT31_uc010cxn.3_Silent_p.E49E NM_002277 NP_002268 Q15323 K1H1_HUMAN Homo sapiens keratin 31 (KRT31), mRNA. 49 Head. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) TGAAGGAGCCCTCGCAGAACC 0.647000 171 7 0 0 1 0 0 ARID5A 10865 broad.mit.edu 37 2 97215090 97215090 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:97215090G>A uc002swe.3 + 2 253 c.153G>A c.(151-153)gaG>gaA p.E51E ARID5A_uc010yuq.2_5'UTR|ARID5A_uc002swf.3_Intron|ARID5A_uc002swg.3_Intron NM_212481 NP_997646 Q03989 ARI5A_HUMAN Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA. 51 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 agcgggaggaggagcaggagc 0.647000 104 10 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56171324 56171324 + Missense_Mutation SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:56171324A>C uc002lhj.4 - 10 6300 c.6086T>G c.(6085-6087)gTg>gGg p.V2029G NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 2029 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CTCCTCCTCCACTGTAGCATA 0.448000 200 23 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94776174 94776174 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:94776174C>T uc001ycv.3 - 2 887 c.783G>A c.(781-783)ggG>ggA p.G261G SERPINA6_uc010auv.3_Non-coding_Transcript NM_001756 NP_001747 P08185 CBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA. 261 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) AGAAGACAGTCCCATTGCCCA 0.562000 125 8 0 0 1 0 0 KLRG2 346689 broad.mit.edu 37 7 139168326 139168326 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:139168326G>A uc003vvb.3 - 0 132 c.63C>T c.(61-63)ccC>ccT p.P21P KLRG2_uc010lnc.3_Silent_p.P21P NM_198508 NP_940910 A4D1S0 KLRG2_HUMAN Homo sapiens killer cell lectin-like receptor subfamily G, member 2 (KLRG2), mRNA. 21 Pro-rich. integral to membrane sugar binding central_nervous_system(1)|large_intestine(2)|lung(3) 6 Melanoma(164;0.233) GGCTTCCCACGGGCTCCATTG 0.726000 27 4 0 0 1 0 0 SERPINB12 89777 broad.mit.edu 37 18 61225599 61225599 + Missense_Mutation SNP C G G rs144275600 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:61225599C>G uc010xeo.2 + 1 183 c.183C>G c.(181-183)aaC>aaG p.N61K SERPINB12_uc010xen.2_Missense_Mutation_p.N61K NM_080474 NP_536722 Q96P63 SPB12_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA. 61 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 TACACTTCAACGAATTTTCCC 0.413000 82 12 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238287622 238287622 + Missense_Mutation SNP G C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:238287622G>C uc002vwl.2 - 5 2439 c.2154C>G c.(2152-2154)aaC>aaG p.N718K COL6A3_uc002vwo.2_Missense_Mutation_p.N512K|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Missense_Mutation_p.N512K|COL6A3_uc002vwr.3_Missense_Mutation_p.N311K|COL6A3_uc010znk.1_Intron NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 718 Nonhelical region.|VWFA 4. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTGAGCCTGTGTTCAGGCCCG 0.552000 29 7 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19051629 19051629 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:19051629T>C uc002dfp.2 + 8 1328 c.1198T>C c.(1198-1200)Ttt>Ctt p.F400L TMC7_uc010vao.1_Missense_Mutation_p.F394S|TMC7_uc002dfq.3_Missense_Mutation_p.F400L|TMC7_uc010vap.2_Missense_Mutation_p.F290L NM_024847 NP_079123 Q7Z402 TMC7_HUMAN Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA. 400 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 CAAGATGGTTTTTGGAGAGAA 0.383000 86 13 0 0 1 0 0 RBM28 55131 broad.mit.edu 37 7 127961426 127961427 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:127961426_127961427GG>AA uc003vmp.2 - 13 1570_1571 c.1455_1456CC>TT c.(1453-1458)tcccga>tcTTga p.R486* RBM28_uc011koj.1_Nonsense_Mutation_p.R345* NM_018077 NP_060547 Q9NW13 RBM28_HUMAN Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA. 486 RNA splicing|mRNA processing Golgi apparatus|nucleolus|spliceosomal complex RNA binding|nucleotide binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 AGCCTGGTTCGGGAGACAAAGA 0.470000 71 5 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990276 990276 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:990276C>T uc003zgw.1 + 1 728 c.690C>T c.(688-690)ctC>ctT p.L230L NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA. 230 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) AGAATCACCTCCTGATTGAGG 0.567000 87 9 0 0 1 0 0 TTC5 91875 broad.mit.edu 37 14 20763873 20763873 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:20763873C>T uc001vwt.3 - 6 894 c.837G>A c.(835-837)gaG>gaA p.E279E TTC5_uc001vwu.3_Silent_p.E136E NM_138376 NP_612385 Q8N0Z6 TTC5_HUMAN Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA. 279 DNA repair cytoplasm|nucleus binding endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_cancers(95;0.00092) Epithelial(56;1.1e-06)|all cancers(55;8.07e-06) GBM - Glioblastoma multiforme(265;0.0106) TTACCTTACTCTCAAGGAGGC 0.453000 87 5 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189585687 189585687 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:189585687G>A uc003fry.2 + 6 1037 c.948G>A c.(946-948)atG>atA p.M316I TP63_uc003frx.2_Missense_Mutation_p.M316I|TP63_uc003frz.2_Missense_Mutation_p.M316I|TP63_uc010hzc.1_Missense_Mutation_p.M316I|TP63_uc003fsa.2_Missense_Mutation_p.M222I|TP63_uc003fsb.2_Missense_Mutation_p.M222I|TP63_uc003fsc.2_Missense_Mutation_p.M222I|TP63_uc003fsd.2_Missense_Mutation_p.M222I|TP63_uc021xir.1_Missense_Mutation_p.M222I|TP63_uc010hzd.1_Missense_Mutation_p.M137I|TP63_uc003fse.1_Missense_Mutation_p.M197I NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 316 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TTGGAGGGATGAACCGCCGTC 0.403000 HNSCC(45;0.13) 54 4 0 0 1 0 0 TMEM26 219623 broad.mit.edu 37 10 63188777 63188777 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:63188777C>T uc001jlo.2 - 3 881 c.512G>A c.(511-513)cGa>cAa p.R171Q TMEM26_uc001jlq.3_Non-coding_Transcript NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN Homo sapiens transmembrane protein 26 (TMEM26), mRNA. 171 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) GAGTTGATCTCGAGTGATCCC 0.443000 39 4 0 0 1 0 0 CAMK4 814 broad.mit.edu 37 5 110809049 110809049 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:110809049G>A uc003kpf.3 + 7 901 c.666G>A c.(664-666)gtG>gtA p.V222V CAMK4_uc010jbv.3_Silent_p.V25V NM_001744 NP_001735 Q16566 KCC4_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA. 222 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) GACCTGAGGTGGACATGTGGT 0.333000 84 10 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027582 37027582 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:37027582C>T uc004ddl.2 + 0 1151 c.1099C>T c.(1099-1101)Cgc>Tgc p.R367C NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 367 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 ATCTCCTCTCCGCCAGCTGCC 0.637000 67 10 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8416954 8416954 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:8416954C>T uc002glm.3 - 22 2743 c.2647G>A c.(2647-2649)Gaa>Aaa p.E883K MYH10_uc002gll.3_Missense_Mutation_p.E852K|MYH10_uc010cnx.3_Missense_Mutation_p.E861K NM_005964 NP_005955 P35580 MYH10_HUMAN Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA. 852 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TGAAGTTCTTCCTCCTGGCGA 0.463000 182 17 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64675564 64675564 + Missense_Mutation SNP G C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:64675564G>C uc001xgl.3 + 100 18520 c.18290G>C c.(18289-18291)tGt>tCt p.C6097S SYNE2_uc001xgm.3_Missense_Mutation_p.C6097S|SYNE2_uc010apy.3_Missense_Mutation_p.C2482S|SYNE2_uc001xgn.3_Missense_Mutation_p.C1059S|SYNE2_uc021rui.1_Missense_Mutation_p.C1104S|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.C67S|SYNE2_uc001xgq.3_Missense_Mutation_p.C462S|SYNE2_uc001xgr.3_5'Flank NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 6097 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCCGATGCCTGTGCAAATGAG 0.537000 49 3 0 0 1 0 0 KRT86 3892 broad.mit.edu 37 12 52699473 52699473 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:52699473C>T uc010snq.2 + 6 1060 c.927C>T c.(925-927)atC>atT p.I309I KRT86_uc009zmg.3_Silent_p.I309I|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Silent_p.I309I NM_002284 NP_002275 O43790 KRT86_HUMAN Homo sapiens keratin 86 (KRT86), mRNA. 309 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(357;0.189) CCACGGTGATCAGGCACGGGG 0.587000 71 6 0 0 1 0 0 TAS2R5 54429 broad.mit.edu 37 7 141490278 141490278 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141490278C>T uc003vwr.1 + 0 262 c.117C>T c.(115-117)ttC>ttT p.F39F NM_018980 NP_061853 Q9NYW4 TA2R5_HUMAN Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA. 39 chemosensory behavior|sensory perception of taste taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 Melanoma(164;0.0171) TCAGAAAATTCAACTGGTCCT 0.458000 89 8 0 0 1 0 0 HEATR8 374977 broad.mit.edu 37 1 55168407 55168407 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:55168407T>C uc010ooe.1 + 20 3877 c.3553T>C c.(3553-3555)Tgc>Cgc p.C1185R HEATR8_uc001cxq.3_Intron|HEATR8_uc010ood.1_Missense_Mutation_p.C703R|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.C386R NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA. 1185 integral to membrane binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GGCCAAAATTTGCAAGTGCCT 0.502000 105 17 0 0 1 0 0 STARD6 147323 broad.mit.edu 37 18 51851172 51851172 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:51851172C>T uc010xdt.2 - 5 553 c.553G>A c.(553-555)Gaa>Aaa p.E185K NM_139171 NP_631910 P59095 STAR6_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA. 185 START. lipid transport lipid binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2) 8 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) ATGGTTTTTTCAATTATTGAT 0.358000 36 5 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71501554 71501554 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:71501554C>T uc011caw.1 + 6 758 c.477C>T c.(475-477)ttC>ttT p.F159F NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN Homo sapiens enamelin (ENAM), mRNA. 159 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) TCTAGGCATTCCCACCATTTG 0.338000 159 8 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142281277 142281277 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:142281277C>T uc003eux.4 - 3 1089 c.967G>A c.(967-969)Gaa>Aaa p.E323K NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 323 DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CAGAGTTTTTCCAGCAGCATA 0.368000 Other conserved DNA damage response genes 102 11 0 0 1 0 0 CELA1 1990 broad.mit.edu 37 12 51733669 51733669 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:51733669C>T uc001ryi.1 - 5 625 c.584G>A c.(583-585)gGa>gAa p.G195E NM_001971 NP_001962 Q9UNI1 CELA1_HUMAN Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA. 195 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 AACTCCATCTCCACCAGCACA 0.612000 66 8 0 0 1 0 0 SLC37A3 84255 broad.mit.edu 37 7 140055487 140055487 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:140055487A>G uc003vvo.3 - 6 765 c.599T>C c.(598-600)gTt>gCt p.V200A SLC37A3_uc003vvp.3_Missense_Mutation_p.V200A|SLC37A3_uc010lnh.3_Missense_Mutation_p.V200A|SLC37A3_uc011kqz.2_Non-coding_Transcript|SLC37A3_uc011kra.1_Missense_Mutation_p.V200A|SLC37A3_uc011krb.1_Missense_Mutation_p.V172A NM_207113 NP_996996 Q8NCC5 SPX3_HUMAN Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 3 (SLC37A3), transcript variant 1, mRNA. 200 carbohydrate transport|transmembrane transport integral to membrane endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) ATACTGAAGAACAGAAGAAGC 0.433000 124 8 0 0 1 0 0 P2RY10 27334 broad.mit.edu 37 X 78217001 78217001 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:78217001C>T uc022bzl.1 + 0 984 c.984C>T c.(982-984)ctC>ctT p.L328L P2RY10_uc004ede.3_Silent_p.L328L|P2RY10_uc004edf.3_Silent_p.L328L NM_198333 NP_938147 O00398 P2Y10_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA. 328 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 GCTCCCGCCTCATGAGCAAGG 0.438000 53 10 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 78131015 78131015 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:78131015C>T uc003ugx.3 - 4 1098 c.844G>A c.(844-846)Gag>Aag p.E282K MAGI2_uc003ugy.3_Missense_Mutation_p.E282K|MAGI2_uc011kgr.1_Missense_Mutation_p.E114K|MAGI2_uc011kgs.1_Missense_Mutation_p.E119K NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA. 282 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TCCTTCAGCTCCTCAGGCTGA 0.488000 84 5 0 0 1 0 0 ZNF730 100129543 broad.mit.edu 37 19 23328734 23328734 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:23328734C>T uc002nrb.1 + 3 c.1087C>T Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system. endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 TTAACCAGTCCTCAAACCTTA 0.348000 56 4 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200880585 200880585 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:200880585G>A uc001gvo.3 + 8 1261 c.1219G>A c.(1219-1221)Gat>Aat p.D407N C1orf106_uc010ppm.2_Missense_Mutation_p.D322N NM_018265 NP_001136041 Q3KP66 CA106_HUMAN Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA. 407 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CTTCAGGGTGGATTCCTTCCG 0.632000 267 24 0 0 1 0 0 SLC25A44 9673 broad.mit.edu 37 1 156170037 156170037 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:156170037C>T uc009wrr.3 + 1 721 c.399C>T c.(397-399)gtC>gtT p.V133V SLC25A44_uc001fnp.3_Silent_p.V133V|SLC25A44_uc010phc.2_Intron|SLC25A44_uc010phd.2_Intron|SLC25A44_uc010phe.2_Intron NM_014655 NP_055470 Q96H78 S2544_HUMAN Homo sapiens solute carrier family 25, member 44 (SLC25A44), mRNA. 133 transmembrane transport integral to membrane|mitochondrial inner membrane binding breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Hepatocellular(266;0.158) TTGATGTAGTCTCCCAGCACC 0.557000 71 5 0 0 1 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23049444 23049444 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:23049444C>T uc003xda.3 - 9 1276 c.1170G>A c.(1168-1170)acG>acA p.T390T NM_003844 NP_003835 O00220 TR10A_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA. 390 Death. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) TCTCATTTTTCGTGAGGTCCA 0.522000 89 7 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7649692 7649692 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:7649692G>A uc001qsz.3 - 4 944 c.816C>T c.(814-816)gtC>gtT p.V272V CD163_uc001qta.3_Silent_p.V272V|CD163_uc009zfw.2_Silent_p.V272V NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 272 SRCR 3. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AACATTCAGTGACTCCATCTA 0.473000 129 6 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39453094 39453094 + Missense_Mutation SNP G C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:39453094G>C uc001uwv.3 + 22 9295 c.8986G>C c.(8986-8988)Gac>Cac p.D2996H NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 2996 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.V2995V(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ATTTAAAGTCGACTCAACACC 0.418000 90 5 0 0 1 0 0 OR2T11 127077 broad.mit.edu 37 1 248790184 248790184 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:248790184C>T uc001ier.1 - 0 246 c.246G>A c.(244-246)atG>atA p.M82I NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA. 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M82I(2) breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTTTAGAAACCATGTCTGCCA 0.502000 25 6 0 0 1 0 0 SLC17A6 57084 broad.mit.edu 37 11 22382474 22382474 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:22382474G>A uc001mqk.3 + 4 1018 c.605G>A c.(604-606)tGg>tAg p.W202* NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA. 202 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 CATGGGATATGGAGCAAATGG 0.478000 63 5 0 0 1 0 0 ATG9A 79065 broad.mit.edu 37 2 220088624 220088625 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:220088624_220088625CC>TT uc002vke.1 - 8 1571_1572 c.1385_1386GG>AA c.(1384-1386)cgg>cAA p.R462Q ATG9A_uc002vkd.1_Intron|ATG9A_uc002vkf.1_Missense_Mutation_p.R462Q NM_001077198 NP_076990 Q7Z3C6 ATG9A_HUMAN Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA. 462 autophagic vacuole assembly|protein transport Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1) 13 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAAACTCGTCCCGGGTCTGCGA 0.614000 156 13 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83926503 83926503 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:83926503C>T uc002bjt.1 - 4 2764 c.2676G>A c.(2674-2676)ggG>ggA p.G892G BNC1_uc010uos.1_Silent_p.G880G NM_001717 NP_001708 Q01954 BNC1_HUMAN Homo sapiens basonuclin 1 (BNC1), mRNA. 892 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 CTTCACAGTTCCCATCACTGT 0.562000 113 6 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5045710 5045710 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:5045710G>A uc002gau.1 + 24 3961 c.1731G>A c.(1729-1731)atG>atA p.M577I USP6_uc002gav.1_Missense_Mutation_p.M577I|USP6_uc010ckz.1_Missense_Mutation_p.M260I NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 577 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CCATTGGTATGAAGGGGCATA 0.423000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 75 9 0 0 1 0 0 RAG2 5897 broad.mit.edu 37 11 36614248 36614248 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:36614248G>A uc021qge.1 - 0 1471 c.1471C>T c.(1471-1473)Ccc>Tcc p.P491S RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Missense_Mutation_p.P491S|RAG2_uc021qgd.1_Missense_Mutation_p.P491S|RAG2_uc001mwv.4_Missense_Mutation_p.P491S|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank NM_001243786 NP_001230715 P55895 RAG2_HUMAN Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA. 491 T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins nucleus DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) ACTCTTTGGGGAGTGTGTAGA 0.448000 Familial Hemophagocytic Lymphohistiocytosis 98 11 0 0 1 0 0 ZNF585A 199704 broad.mit.edu 37 19 37644219 37644219 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:37644219G>A uc002ofo.1 - 4 813 c.582C>T c.(580-582)tcC>tcT p.S194S ZNF585A_uc002ofm.1_Silent_p.S139S|ZNF585A_uc002ofn.1_Silent_p.S139S NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA. 194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTTGAAAAAAGGATTTTCCAC 0.403000 94 13 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31023914 31023914 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:31023914C>T uc021wbw.1 + 12 3831 c.3399C>T c.(3397-3399)tcC>tcT p.S1133S ASXL1_uc002wxs.3_Silent_p.S1132S|ASXL1_uc010geb.3_Silent_p.S1024S NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA. 1133 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.(574_1542)fs*?(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 TGTCAGAATCCCCACAAGTAC 0.522000 """F, N, Mis""" """MDS, CMML""" 71 5 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95670765 95670765 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:95670765G>A uc001yef.2 - 8 1037 c.921C>T c.(919-921)atC>atT p.I307I NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA. 307 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) AAGTGGATTCGATAGGAACTT 0.348000 52 7 0 0 1 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111540173 111540173 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:111540173A>G uc003kpv.1 - 14 1549 c.1275T>C c.(1273-1275)aaT>aaC p.N425N EPB41L4A_uc003kpp.1_Silent_p.N52N NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA. 425 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) CACTGGGAGAATTGTAGAGTC 0.507000 78 6 0 0 1 0 0 MYL1 4632 broad.mit.edu 37 2 211158520 211158520 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:211158520T>A uc002vec.3 - 4 612 c.483A>T c.(481-483)gaA>gaT p.E161D MYL1_uc002veb.3_Missense_Mutation_p.E117D NM_079420 NP_524144 P05976 MYL1_HUMAN Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA. 161 EF-hand 2. muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) CTTTCATCTTTTCACCTGATG 0.438000 109 7 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168233490 168233490 + Missense_Mutation SNP A T T rs140643965 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:168233490A>T uc010jjg.3 - 8 1316 c.896T>A c.(895-897)aTg>aAg p.M299K SLIT3_uc003mab.3_Missense_Mutation_p.M299K|SLIT3_uc010jji.2_Missense_Mutation_p.M299K|SLIT3_uc003mac.1_Missense_Mutation_p.M96K NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 299 LRRNT 2. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGGAATCTCCATCAAGCCCTT 0.582000 127 9 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126370866 126370866 + Missense_Mutation SNP C T T rs139451014 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:126370866C>T uc003ifj.4 + 8 8695 c.8695C>T c.(8695-8697)Cct>Tct p.P2899S FAT4_uc011cgp.2_Missense_Mutation_p.P1197S|FAT4_uc003ifi.1_Missense_Mutation_p.P377S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 2899 Cadherin 28. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P2899S(3) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGCAACAGATCCTGATGAGGG 0.363000 99 7 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36491997 36491997 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:36491997C>T uc002hpz.3 - 4 1279 c.1258G>A c.(1258-1260)Gaa>Aaa p.E420K NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA. 420 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) AGGACAGTTTCCAGCAGGACC 0.552000 127 12 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47172397 47172397 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:47172397G>A uc001rpi.2 - 10 1279 c.880C>T c.(880-882)Cct>Tct p.P294S SLC38A4_uc001rpj.2_Missense_Mutation_p.P294S NM_018018 NP_060488 Q969I6 S38A4_HUMAN Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA. 294 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) AGCCCTGCAGGATTGCGGTGG 0.453000 63 5 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 107022096 107022096 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:107022096C>T uc001kyi.1 + 25 3678 c.3451C>T c.(3451-3453)Cct>Tct p.P1151S NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 1151 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TAGGAAAATCCCTTGGATTAA 0.488000 66 6 0 0 1 0 0 ZNF793 390927 broad.mit.edu 37 19 38027945 38027945 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:38027945C>T uc010efm.3 + 7 827 c.385C>T c.(385-387)Ctt>Ttt p.L129F ZNF793_uc010xts.2_Missense_Mutation_p.L129F NM_001013659 NP_001013681 Q6ZN11 ZN793_HUMAN Homo sapiens zinc finger protein 793 (ZNF793), mRNA. 129 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAGCACTGATCTTTTTTCTTC 0.383000 27 3 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123097505 123097505 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:123097505G>A uc003vkn.3 - 11 2700 c.2123C>T c.(2122-2124)tCc>tTc p.S708F IQUB_uc011kny.2_Missense_Mutation_p.S41F|IQUB_uc003vko.3_Missense_Mutation_p.S708F|IQUB_uc010lkt.3_Non-coding_Transcript NM_178827 NP_849149 Q8NA54 IQUB_HUMAN Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA. 708 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 GTTCCAGGGGGACCACTCCAG 0.453000 198 7 0 0 1 0 0 OR11H12 440153 broad.mit.edu 37 14 19378008 19378008 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:19378008C>T uc010tkp.2 + 0 415 c.415C>T c.(415-417)Ctt>Ttt p.L139F NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA. 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGATCAGTACCTTGCTATCTG 0.438000 115 8 0 0 1 0 0 ASB15 142685 broad.mit.edu 37 7 123269153 123269153 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:123269153C>T uc003vku.1 + 9 1397 c.1105C>T c.(1105-1107)Ctt>Ttt p.L369F ASB15_uc003vkw.1_Missense_Mutation_p.L369F NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA. 369 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 CACAGAAGTCCTTCTGGCTGC 0.468000 97 6 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810344 123810344 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:123810344C>T uc001pzk.1 + 0 21 c.21C>T c.(19-21)tcC>tcT p.S7S NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA. 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CAAATCATTCCCAGGTGGCAG 0.418000 90 14 0 0 1 0 0 GPR4 2828 broad.mit.edu 37 19 46094974 46094974 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:46094974C>T uc002pcm.3 - 1 1096 c.151G>A c.(151-153)Gag>Aag p.E51K OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.E51K NM_005282 NP_005273 P46093 GPR4_HUMAN Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA. 51 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) ACGCCCAGCTCGTTGCGCTGT 0.617000 71 19 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520680 33520680 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:33520680G>A uc002hjd.2 - 0 733 c.647C>T c.(646-648)cCc>cTc p.P216L NM_152462 NP_689675 Q8N808 AMAC1_HUMAN Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA. 216 integral to membrane GAGGCAGGGGGGAAAGTGCAG 0.642000 100 9 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064199 9064199 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9064199G>A uc002mkp.3 - 2 23451 c.23247C>T c.(23245-23247)acC>acT p.T7749T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7751 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTCATGGGAGGTGGTGCTCA 0.517000 152 19 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166764 19166764 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:19166764C>T uc001bba.1 - 5 1850 c.1849G>A c.(1849-1851)Gtg>Atg p.V617M NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA. 617 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity p.M616T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) ACCGGGACCACCATGTATGCC 0.612000 97 14 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45135121 45135121 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:45135121C>T uc003com.3 - 5 1410 c.1275G>A c.(1273-1275)agG>agA p.R425R NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA. 425 CUB. extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) AGTAGGATTTCCTTTGGCAGT 0.597000 272 18 0 0 1 0 0 SERPINA9 327657 broad.mit.edu 37 14 94935675 94935675 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:94935675G>A uc001ydf.3 - 1 718 c.557C>T c.(556-558)cCc>cTc p.P186L SERPINA9_uc001yde.3_Intron|SERPINA9_uc010avc.3_Missense_Mutation_p.P37L|SERPINA9_uc001ydg.3_Missense_Mutation_p.P150L|SERPINA9_uc001ydh.1_Missense_Mutation_p.P186L|SERPINA9_uc001ydi.1_Missense_Mutation_p.P150L NM_175739 NP_783866 Q86WD7 SPA9_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA. 168 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity p.P186T(1)|p.N185S(1) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GGCAATGGAGGGGTTGGAGAA 0.498000 182 29 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113765467 113765467 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:113765467A>G uc003eax.3 - 2 389 c.242T>C c.(241-243)aTa>aCa p.I81T KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Intron|KIAA1407_uc011bip.1_Missense_Mutation_p.I68T NM_020817 NP_065868 Q8NCU4 K1407_HUMAN Homo sapiens KIAA1407 (KIAA1407), mRNA. 81 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 ATGATCCTCTATTTGCTCAGA 0.373000 56 6 0 0 1 0 0 RGS18 64407 broad.mit.edu 37 1 192127853 192127853 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:192127853G>A uc001gsg.3 + 0 262 c.86G>A c.(85-87)gGa>gAa p.G29E NM_130782 NP_570138 Q9NS28 RGS18_HUMAN Homo sapiens regulator of G-protein signaling 18 (RGS18), mRNA. 29 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.S28*(1) kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CATGGTTCAGGAAAAGAAGAA 0.279000 62 5 0 0 1 0 0 SLC25A52 147407 broad.mit.edu 37 18 29339949 29339949 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:29339949C>T uc002kxa.2 - 0 895 c.676G>A c.(676-678)Gga>Aga p.G226R NM_001034172 NP_001029344 Q3SY17 MCAR2_HUMAN Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA. 226 transport integral to membrane|mitochondrial inner membrane CACAAGAATCCCAACATGGCA 0.448000 76 7 0 0 1 0 0 INTS2 57508 broad.mit.edu 37 17 59968924 59968924 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:59968924G>A uc002izn.3 - 13 1925 c.1849C>T c.(1849-1851)Cag>Tag p.Q617* INTS2_uc002izm.3_Nonsense_Mutation_p.Q609* NM_020748 NP_065799 Q9H0H0 INT2_HUMAN Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA. 617 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 GTGACTGGCTGATTTGTGGCT 0.348000 165 12 0 0 1 0 0 OR5A2 219981 broad.mit.edu 37 11 59190014 59190014 + Missense_Mutation SNP G C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:59190014G>C uc010rkt.2 - 0 413 c.413C>G c.(412-414)tCc>tGc p.S138C NM_001001954 NP_001001954 Q8NGI9 OR5A2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA. 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 21 AAGTGTATGGGATATGAGGAC 0.468000 40 5 0 0 1 0 0 SLC22A11 55867 broad.mit.edu 37 11 64337275 64337275 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:64337275C>T uc001oai.3 + 8 1908 c.1534C>T c.(1534-1536)Ctc>Ttc p.L512F SLC22A11_uc009ypq.3_Missense_Mutation_p.L404F NM_018484 NP_060954 Q9NSA0 S22AB_HUMAN Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA. 512 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) GCTGTTCTTCCTCCCGGAGAC 0.622000 148 10 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52661316 52661316 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:52661316G>A uc003des.2 - 12 1526 c.1514C>T c.(1513-1515)tCt>tTt p.S505F PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.S505F|PBRM1_uc003der.2_Missense_Mutation_p.S473F|PBRM1_uc003det.2_Missense_Mutation_p.S505F|PBRM1_uc003deu.2_Missense_Mutation_p.S505F|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.S505F|PBRM1_uc010hmk.1_Missense_Mutation_p.S505F|PBRM1_uc003dey.2_Missense_Mutation_p.S505F|PBRM1_uc003dez.1_Missense_Mutation_p.S505F|PBRM1_uc003dfb.1_Missense_Mutation_p.S403F NM_181042 NP_060635 Q86U86 PB1_HUMAN Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA. 505 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome DNA binding|chromatin binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) ACCAGTATCAGAGGTGGCTGA 0.413000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 59 3 0 0 1 0 0 GCM2 9247 broad.mit.edu 37 6 10876135 10876135 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:10876135G>A uc003mzn.4 - 3 643 c.571C>T c.(571-573)Cga>Tga p.R191* SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 O75603 GCM2_HUMAN Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA. 191 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) TCGGATTCTCGAATTCTCTTT 0.448000 78 8 0 0 1 0 0 C7orf34 135927 broad.mit.edu 37 7 142636842 142636842 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142636842C>T uc003wca.2 + 0 240 c.199C>T c.(199-201)Ccc>Tcc p.P67S NM_178829 NP_849151 Q96L11 CG034_HUMAN Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA. 42 extracellular region large_intestine(1)|lung(4) 5 Melanoma(164;0.059) AGAGAAAACGCCCTCTGCAGG 0.547000 48 3 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143092430 143092431 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:143092430_143092431CC>TT uc003wcz.3 - 11 2151_2152 c.2064_2065GG>AA c.(2062-2067)ctggaa>ctAAaa p.E689K NM_005232 NP_005223 P21709 EPHA1_HUMAN Homo sapiens EPH receptor A1 (EPHA1), mRNA. 689 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) ACGACGCCTTCCAGATGCAGAA 0.545000 OREG0018405 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 669 43 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122623075 122623075 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:122623075C>T uc001ubq.3 + 13 2469 c.2361C>T c.(2359-2361)atC>atT p.I787I MLXIP_uc001ubt.3_Silent_p.I394I NM_014938 NP_055753 Q9HAP2 MLXIP_HUMAN Homo sapiens MLX interacting protein (MLXIP), mRNA. 787 Leucine-zipper. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) GGGAGGAGATCGAGGAGCTCA 0.632000 23 6 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115751004 115751004 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:115751004C>T uc003ibu.3 - 12 3120 c.2441G>A c.(2440-2442)gGa>gAa p.G814E NDST4_uc010imw.3_Non-coding_Transcript NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 814 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TTTTGTCTTTCCTCCTTCCAG 0.333000 60 5 0 0 1 0 0 CHFR 55743 broad.mit.edu 37 12 133418169 133418169 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:133418169T>A uc001ulf.2 - 17 2050 c.1966A>T c.(1966-1968)Atc>Ttc p.I656F CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Missense_Mutation_p.I615F|CHFR_uc001ule.2_Missense_Mutation_p.I644F|CHFR_uc010tbs.1_Missense_Mutation_p.I655F|CHFR_uc010tbt.1_Missense_Mutation_p.I564F NM_001161344 NP_001154816 Q96EP1 CHFR_HUMAN Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA. 656 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) TGTTCACAGATATGATTGAAT 0.418000 143 15 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72164190 72164190 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:72164190C>T uc002fcc.4 - 11 1891 c.1719G>A c.(1717-1719)aaG>aaA p.K573K PMFBP1_uc002fcd.3_Silent_p.K568K|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Silent_p.K423K|PMFBP1_uc010cgo.1_5'Flank NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 573 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) GCCTCTTTTCCTTGTCTGAAT 0.473000 68 6 0 0 1 0 0 DNAJC25 548645 broad.mit.edu 37 9 114429186 114429186 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:114429186C>T uc004bfn.3 + 1 484 c.428C>T c.(427-429)cCc>cTc p.P143L DNAJC25_uc004bfp.3_Missense_Mutation_p.P58L|DNAJC25_uc011lws.2_Missense_Mutation_p.P58L NM_004125 NP_004116 Q9H1X3 DJC25_HUMAN Homo sapiens DNAJC25-GNG10 readthrough (DNAJC25-GNG10), mRNA. 0 protein folding integral to membrane heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1)|skin(4) 8 GGAAGTAACCCCTTCCGGGAG 0.512000 32 15 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129904176 129904176 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:129904176G>A uc001lke.3 - 12 6123 c.5928C>T c.(5926-5928)atC>atT p.I1976I MKI67_uc001lkf.3_Silent_p.I1616I|MKI67_uc009yav.1_Silent_p.I1551I|MKI67_uc009yaw.1_Silent_p.I1126I NM_002417 NP_002408 P46013 KI67_HUMAN Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA. 1976 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) ATACTTCTGTGATTTTGTCAT 0.473000 204 12 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15378342 15378342 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:15378342T>C uc002nar.3 - 3 666 c.444A>G c.(442-444)ttA>ttG p.L148L BRD4_uc002nas.3_Silent_p.L148L|BRD4_uc002nat.3_Silent_p.L148L|BRD4_uc002nau.4_Silent_p.L148L NM_058243 NP_490597 O60885 BRD4_HUMAN Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA. 148 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) CTTCTGCCATTAAGACTATGT 0.517000 T C15orf55 lethal midline carcinoma of young people 141 10 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111482565 111482565 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:111482565G>A uc003iab.4 + 19 3067 c.2725G>A c.(2725-2727)Gag>Aag p.E909K NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 909 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TTTCTAGATGGAGAGCTTTTT 0.368000 40 3 0 0 1 0 0 SLC17A6 57084 broad.mit.edu 37 11 22398151 22398151 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:22398151C>T uc001mqk.3 + 10 1759 c.1346C>T c.(1345-1347)tCg>tTg p.S449L NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA. 449 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 ATGGGCATTTCGAATGGTGTT 0.383000 78 11 0 0 1 0 0 AIF1L 83543 broad.mit.edu 37 9 133993169 133993169 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:133993169G>A uc004cab.2 + 4 383 c.229G>A c.(229-231)Gag>Aag p.E77K AIF1L_uc004cad.2_Missense_Mutation_p.E103K|AIF1L_uc004cae.2_Missense_Mutation_p.E77K|AIF1L_uc004cac.2_Non-coding_Transcript|AIF1L_uc011mce.1_Missense_Mutation_p.E82K NM_031426 NP_113614 Q9BQI0 AIF1L_HUMAN Homo sapiens allograft inflammatory factor 1-like (AIF1L), transcript variant 1, mRNA. 77 EF-hand 1. actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane actin filament binding|calcium ion binding lung(2) 2 GAGGATGATGGAGAAGCTTGG 0.517000 71 15 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7621349 7621349 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:7621349C>T uc010xjq.2 + 26 3374 c.3134C>T c.(3133-3135)tCg>tTg p.S1045L PNPLA6_uc002mgq.2_Missense_Mutation_p.S997L|PNPLA6_uc010xjp.2_Missense_Mutation_p.S970L|PNPLA6_uc002mgr.2_Missense_Mutation_p.S997L|PNPLA6_uc002mgs.3_Missense_Mutation_p.S1035L NM_001166111 NP_001159583 Q8IY17 PLPL6_HUMAN Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA. 1036 Patatin. cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 AGCATGACTTCGGTGCTGGAA 0.532000 337 29 0 0 1 0 0 OGT 8473 broad.mit.edu 37 X 70775855 70775855 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:70775855C>T uc004eaa.2 + 7 1214 c.976C>T c.(976-978)Cat>Tat p.H326Y BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.H316Y|OGT_uc004eac.3_Missense_Mutation_p.H187Y|OGT_uc004ead.3_5'UTR NM_181672 NP_858058 O15294 OGT1_HUMAN Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA. 326 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction MLL5-L complex|cytosol enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) GTGTCCCACCCATGCAGACTC 0.408000 90 17 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162719559 162719559 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:162719559C>T uc002ubx.4 + 5 937 c.753C>T c.(751-753)tcC>tcT p.S251S SLC4A10_uc010fpa.1_Silent_p.S263S|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Silent_p.S262S|SLC4A10_uc002uby.4_Silent_p.S251S NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 251 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AACCAAATTCCATGGACAAAA 0.338000 49 3 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98220343 98220343 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:98220343G>A uc004avk.4 - 17 3308 c.3120C>T c.(3118-3120)ttC>ttT p.F1040F PTCH1_uc010mro.3_Silent_p.F889F|PTCH1_uc010mrp.3_Silent_p.F889F|PTCH1_uc010mrq.3_Silent_p.F889F|PTCH1_uc004avl.4_Silent_p.F889F|PTCH1_uc004avm.4_Silent_p.F1039F|PTCH1_uc010mrr.3_Silent_p.F974F NM_000264 NP_001077076 Q13635 PTC1_HUMAN Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA. 1040 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.L1041fs*104(2)|p.I963fs*2(1)|p.L1040fs*104(1) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CGCACACGAGGAATGTGCAGG 0.552000 72 14 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35654684 35654684 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:35654684C>T uc003jjo.3 + 6 945 c.834C>T c.(832-834)acC>acT p.T278T SPEF2_uc003jjn.1_Silent_p.T278T|SPEF2_uc003jjq.4_Silent_p.T278T NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 278 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGACAACCACCGATTTGTTAA 0.368000 56 7 0 0 1 0 0 MAP3K6 9064 broad.mit.edu 37 1 27683576 27683576 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:27683576G>A uc001bny.1 - 23 3537 c.3288C>T c.(3286-3288)atC>atT p.I1096I MAP3K6_uc009vsw.1_Silent_p.I1088I NM_004672 NP_004663 O95382 M3K6_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA. 1096 activation of JUN kinase activity ATP binding|MAP kinase kinase kinase activity|magnesium ion binding breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AGTGTGGACGGATCTGGCGCT 0.642000 87 12 0 0 1 0 0 TRIM24 8805 broad.mit.edu 37 7 138235855 138235855 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:138235855C>T uc003vuc.3 + 7 1406 c.1191C>T c.(1189-1191)tcC>tcT p.S397S TRIM24_uc003vub.3_Silent_p.S397S|TRIM24_uc022amn.1_Silent_p.S355S NM_015905 NP_056989 O15164 TIF1A_HUMAN Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA. 397 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 GTGATGCATCCCCAGTGACCA 0.403000 90 11 0 0 1 0 0 HOXA1 3198 broad.mit.edu 37 7 27134281 27134281 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:27134281G>A uc003sye.3 - 1 880 c.786C>T c.(784-786)atC>atT p.I262I HOXA1_uc003syd.3_3'UTR|HOXA1_uc022aao.1_3'UTR|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA. 262 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GGGATGCAGCGATCTCCACCC 0.562000 135 15 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70841627 70841627 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:70841627G>A uc002ezr.3 - 85 15370 c.15219C>T c.(15217-15219)atC>atT p.I5073I HYDIN_uc010cfy.3_Non-coding_Transcript NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 5074 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGATGTTGTTGATCTTCTTGG 0.522000 115 14 0 0 1 0 0 IL12RB1 3594 broad.mit.edu 37 19 18192971 18192971 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:18192971G>A uc002nhx.1 - 3 399 c.348C>T c.(346-348)ttC>ttT p.F116F IL12RB1_uc002nhw.1_Silent_p.F76F|IL12RB1_uc010xqb.1_Silent_p.F76F|IL12RB1_uc002nhy.3_Silent_p.F76F NM_005535 NP_005526 P42701 I12R1_HUMAN Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA. 76 Fibronectin type-III 1. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 AACACCGCAGGAAGTGGCTGA 0.602000 47 6 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40368830 40368830 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:40368830C>T uc002omp.4 - 27 12526 c.12518G>A c.(12517-12519)cGg>cAg p.R4173Q NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 4173 VWFD 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CACTGAAATCCGCCCGTCGGC 0.622000 327 31 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81111188 81111188 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:81111188C>T uc001szg.2 + 0 481 c.346C>T c.(346-348)Cag>Tag p.Q116* NM_005593 NP_005584 P13349 MYF5_HUMAN Homo sapiens myogenic factor 5 (MYF5), mRNA. 116 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 CAACCCCAACCAGAGGCTGCC 0.592000 118 8 0 0 1 0 0 PARK2 5071 broad.mit.edu 37 6 161771215 161771215 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:161771215C>T uc021zhu.1 - 12 1546 c.1455G>A c.(1453-1455)caG>caA p.Q485Q PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_3'UTR|PARK2_uc010kkd.3_Silent_p.Q247Q|PARK2_uc003qtx.4_Silent_p.Q438Q|PARK2_uc021zhs.1_Silent_p.Q360Q|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Silent_p.Q410Q|PARK2_uc003qtz.4_Silent_p.Q289Q|PARK2_uc021zhv.1_Silent_p.Q359Q|PARK2_uc021zhw.1_Silent_p.Q247Q|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Silent_p.Q388Q|PARK2_uc011egf.2_Silent_p.Q112Q NM_004562 NP_004553 O60260 PRKN2_HUMAN Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA. 438 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) TGCACTGGGGCTGCGGACACT 0.617000 34 6 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56815553 56815553 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:56815553A>G uc001slf.2 - 21 2851 c.2683T>C c.(2683-2685)Ttg>Ctg p.L895L NM_003920 NP_003911 Q9UNS1 TIM_HUMAN Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA. 895 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 TGCAGCTCCAACTCCTGATCC 0.507000 155 14 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232650684 232650684 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:232650684G>A uc001hvg.3 - 0 560 c.402C>T c.(400-402)ttC>ttT p.F134F NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA. 134 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TGGCCTCCACGAAGTCCAGAT 0.502000 138 7 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152755059 152755059 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:152755059C>T uc021zhb.1 - 31 4555 c.4332G>A c.(4330-4332)gtG>gtA p.V1444V SYNE1_uc003qot.4_Silent_p.V1451V|SYNE1_uc003qou.4_Silent_p.V1444V|SYNE1_uc010kjb.1_Silent_p.V1427V|SYNE1_uc003qow.3_Silent_p.V739V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 1444 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere 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) ACTTGGTTTTCACCATTTCCA 0.338000 HNSCC(10;0.0054) 13 4 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49323748 49323748 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:49323748C>T uc003cwq.2 - 15 2062 c.1983G>A c.(1981-1983)gaG>gaA p.E661E USP4_uc003cwp.2_Silent_p.E391E|USP4_uc003cwr.2_Silent_p.E614E NM_003363 NP_003354 Q13107 UBP4_HUMAN Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA. 661 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) CCATTTCTTCCTCATCTTCTC 0.383000 39 4 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247587615 247587615 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:247587615C>T uc001icr.3 + 4 1008 c.870C>T c.(868-870)atC>atT p.I290I NLRP3_uc001ics.3_Silent_p.I290I|NLRP3_uc001icu.3_Silent_p.I290I|NLRP3_uc001icw.3_Silent_p.I290I|NLRP3_uc001icv.3_Silent_p.I290I|NLRP3_uc010pyw.2_Silent_p.I288I|NLRP3_uc001ict.1_Silent_p.I288I NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 290 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCCACAAGATCGTGAGAAAAC 0.562000 108 5 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174368 51174368 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:51174368C>T uc021tif.1 - 1 1796 c.1474G>A c.(1474-1476)Ggc>Agc p.G492S SALL1_uc021tid.1_Missense_Mutation_p.G492S|SALL1_uc021tie.1_Missense_Mutation_p.G589S|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 589 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TTGACTGAGCCTGGGGGGCTG 0.637000 63 7 0 0 1 0 0 DBC1 1620 broad.mit.edu 37 9 121976369 121976369 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:121976369G>A uc004bkc.2 - 5 1206 c.750C>T c.(748-750)atC>atT p.I250I DBC1_uc004bkd.2_Silent_p.I250I NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 250 MACPF. cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CATTGCACATGATATAGCTCA 0.512000 59 9 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140812573 140812573 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140812573C>T uc003lkt.2 + 0 2416 c.2247C>T c.(2245-2247)ttC>ttT p.F749F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.F749F NM_003735 NP_003726 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA. 759 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGGCTTTCCTGCAGACCT 0.637000 166 11 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746658 77746658 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:77746658C>T uc002snr.3 - 2 752 c.337G>A c.(337-339)Gaa>Aaa p.E113K LRRTM4_uc002snq.3_Missense_Mutation_p.E113K|LRRTM4_uc002sns.2_Missense_Mutation_p.E113K|LRRTM4_uc002snt.2_Missense_Mutation_p.E114K NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA. 113 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) AGAATTAATTCTTTCAGTCTA 0.393000 25 6 0 0 1 0 0 TACO1 51204 broad.mit.edu 37 17 61685284 61685285 + Silent DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:61685284_61685285CC>TT uc002jbd.3 + 4 1028_1029 c.816_817CC>TT c.(814-819)gacctg>gaTTtg p.272_273DL>DL NM_016360 NP_057444 Q9BSH4 TACO1_HUMAN Homo sapiens translational activator of mitochondrially encoded cytochrome c oxidase I (TACO1), nuclear gene encoding mitochondrial protein, mRNA. 272 regulation of translation mitochondrion breast(2)|endometrium(1)|lung(1) 4 CTGAGCCCGACCTGGAACAGGC 0.545000 99 7 0 0 1 0 0 HTR3E 285242 broad.mit.edu 37 3 183823664 183823664 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:183823664C>T uc010hxr.3 + 4 1104 c.910C>T c.(910-912)Cgt>Tgt p.R304C HTR3E_uc010hxq.3_Missense_Mutation_p.R278C|HTR3E_uc003fml.4_Missense_Mutation_p.R263C|HTR3E_uc003fmm.3_Missense_Mutation_p.R293C|HTR3E_uc003fmn.3_Missense_Mutation_p.R278C NM_182589 NP_872395 A5X5Y0 5HT3E_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA. 278 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) AAGTGGGAATCGTGTCCCATT 0.557000 166 20 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101587405 101587405 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:101587405C>T uc001thz.4 - 4 1080 c.690G>A c.(688-690)tgG>tgA p.W230* NM_145913 NP_666018 Q8N695 SC5A8_HUMAN Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA. 230 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ACACTTACTTCCAGAAATTTA 0.338000 134 12 0 0 1 0 0 RG9MTD2 93587 broad.mit.edu 37 4 100470360 100470360 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:100470360G>A uc003huy.3 - 7 1218 c.905C>T c.(904-906)tCg>tTg p.S302L RG9MTD2_uc003huz.4_Missense_Mutation_p.S302L|RG9MTD2_uc003hva.4_Missense_Mutation_p.S302L NM_152292 NP_689505 Q8TBZ6 RG9D2_HUMAN Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA. 302 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(123;1.7e-08) ATCACTGTCCGATCCACCTTC 0.443000 116 11 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8420028 8420028 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:8420028G>A uc001ape.3 - 19 4224 c.3414C>T c.(3412-3414)gaC>gaT p.D1138D RERE_uc001apf.3_Silent_p.D1138D|RERE_uc001apd.3_Silent_p.D584D NM_012102 NP_036234 Q9P2R6 RERE_HUMAN Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA. 1138 NLS-bearing substrate import into nucleus|multicellular organismal development mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TGTAGCCCCGGTCCAGGTGTT 0.617000 103 14 0 0 1 0 0 FGFBP2 83888 broad.mit.edu 37 4 15964460 15964460 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:15964460T>A uc003gon.3 - 0 400 c.293A>T c.(292-294)gAg>gTg p.E98V FGFBP2_uc021xmm.1_Missense_Mutation_p.E98V NM_031950 NP_114156 Q9BYJ0 FGFP2_HUMAN Homo sapiens fibroblast growth factor binding protein 2 (FGFBP2), mRNA. 98 extracellular space growth factor binding central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 9 GCGCCTCAGCTCCTGCAGGGC 0.627000 39 7 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178942523 178942523 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:178942523G>A uc003fjk.3 + 15 2487 c.2330G>A c.(2329-2331)aGg>aAg p.R777K NM_006218 NP_006209 P42336 PK3CA_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA. 777 T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R777M(3) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCTGCAAAAAGGCCACTGTGG 0.348000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 57 6 0 0 1 0 0 ADARB2 105 broad.mit.edu 37 10 1313163 1313163 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:1313163G>A uc009xhq.3 - 3 1505 c.1179C>T c.(1177-1179)atC>atT p.I393I NM_018702 NP_061172 Q9NS39 RED2_HUMAN Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA. 393 mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) TGGTCATGACGATTCCTGCCA 0.532000 21 4 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42718559 42718559 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:42718559G>A uc021xxv.1 + 9 1108 c.971G>A c.(970-972)gGa>gAa p.G324E GHR_uc003jmt.3_Missense_Mutation_p.G317E|GHR_uc003jmu.3_Missense_Mutation_p.G317E|GHR_uc003jmv.2_Missense_Mutation_p.G317E|GHR_uc021xxw.1_Missense_Mutation_p.G317E|GHR_uc021xxx.1_Missense_Mutation_p.G317E|GHR_uc021xxy.1_Missense_Mutation_p.G317E|GHR_uc021xxz.1_Missense_Mutation_p.G317E|GHR_uc021xya.1_Missense_Mutation_p.G317E|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_Missense_Mutation_p.E294K|GHR_uc011cpq.2_Missense_Mutation_p.G130E|GHR_uc021xyd.1_Missense_Mutation_p.G295E NM_001242399 NP_001229328 P10912 GHR_HUMAN Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA. 317 2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TTCTAGGAAGGAAAATTAGAG 0.299000 129 8 0 0 1 0 0 DEPDC4 120863 broad.mit.edu 37 12 100649877 100649877 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:100649877G>A uc009ztv.1 - 3 831 c.828C>T c.(826-828)atC>atT p.I276I DEPDC4_uc001thh.1_Non-coding_Transcript|DEPDC4_uc001thi.3_Silent_p.I276I|DEPDC4_uc001thj.1_Silent_p.I222I|DEPDC4_uc001thk.1_Silent_p.I87I|DEPDC4_uc001thl.1_Non-coding_Transcript NM_152317 NP_689530 Q8N2C3 DEPD4_HUMAN Homo sapiens DEP domain containing 4 (DEPDC4), mRNA. 276 intracellular signal transduction p.I276I(2)|p.V275F(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1) 15 AAGTGTTAGTGATAACAAGAT 0.333000 82 5 0 0 1 0 0 C1orf65 164127 broad.mit.edu 37 1 223567889 223567889 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:223567889C>T uc001hoa.2 + 0 1175 c.1072C>T c.(1072-1074)Cag>Tag p.Q358* NM_152610 NP_689823 Q8N715 CA065_HUMAN Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA. 358 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) GAGCCCGCGCCAGGAGAAGCT 0.692000 14 3 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123779751 123779751 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:123779751G>A uc004bkv.3 - 13 1785 c.1755C>T c.(1753-1755)ggC>ggT p.G585G C5_uc010mvm.1_Silent_p.G585G|C5_uc010mvn.1_Silent_p.G585G NM_001735 NP_001726 P01031 CO5_HUMAN Homo sapiens complement component 5 (C5), mRNA. 585 G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|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) ACACAGTTTGGCCTGGAGAAT 0.418000 44 8 0 0 1 0 0 WDR52 55779 broad.mit.edu 37 3 113146154 113146154 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:113146154C>T uc003ead.2 - 2 200 c.133G>A c.(133-135)Gat>Aat p.D45N WDR52_uc003eae.2_Missense_Mutation_p.D45N NM_001164496 NP_001157968 Q96MT7 WDR52_HUMAN Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA. 45 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 TCTGTGTCATCTTCTAAAAAT 0.299000 28 3 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52817097 52817097 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:52817097T>C uc003dfs.3 + 8 1085 c.1055T>C c.(1054-1056)cTa>cCa p.L352P ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.L210P|ITIH1_uc021wzg.1_Missense_Mutation_p.L64P|ITIH1_uc021wzh.1_Missense_Mutation_p.L64P|ITIH1_uc003dft.3_5'Flank NM_002215 NP_002206 P19827 ITIH1_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA. 352 VWFA. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GAGGCCAACCTACAAGCAGCT 0.562000 63 5 0 0 1 0 0 LILRB3 11025 broad.mit.edu 37 19 54803035 54803035 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:54803035G>A uc002qfd.3 - 3 734 c.642C>T c.(640-642)ctC>ctT p.L214L LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron NM_006865 NP_006856 O75022 LIRB3_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA. 213 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGAGCCCCAGGAGATCACTGG 0.617000 140 25 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38950548 38950548 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:38950548C>T uc021wvy.1 - 8 1438 c.1239G>A c.(1237-1239)gaG>gaA p.E413E NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 413 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TGGCCTCTATCTCTGCAGCTA 0.488000 112 17 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107323769 107323769 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:107323769C>T uc003vep.3 + 6 1112 c.888C>T c.(886-888)atC>atT p.I296I NM_000441 NP_000432 O43511 S26A4_HUMAN Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA. 296 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity p.I296I(2) central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GACACAAAATCCCAGTCCCTA 0.353000 Pendred syndrome 111 6 0 0 1 0 0 OR51M1 390059 broad.mit.edu 37 11 5411211 5411211 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:5411211G>A uc010qzc.2 + 0 605 c.583G>A c.(583-585)Gaa>Aaa p.E195K HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA. 195 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTGCACCAGGAAGTGATACA 0.517000 117 13 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141732659 141732659 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141732659C>T uc003vwy.3 + 13 1673 c.1619C>T c.(1618-1620)tCg>tTg p.S540L NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 540 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GTTGATGGTTCGGTCTCAGGA 0.368000 25 3 0 0 1 0 0 L32131 0 broad.mit.edu 37 17 58511257 58511257 + RNA SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:58511257G>A uc002iyr.1 - 0 c.2101C>T Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12. CAAGGTTGACGATCTCATCAA 0.473000 57 3 0 0 1 0 0 JHDM1D 80853 broad.mit.edu 37 7 139819010 139819010 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:139819010C>T uc003vvm.3 - 8 1153 c.1149G>A c.(1147-1149)gaG>gaA p.E383E JHDM1D_uc010lng.3_Non-coding_Transcript NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA. 383 JmjC. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TTTTCTCCATCTCATAACACC 0.313000 102 13 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7092468 7092468 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:7092468C>T uc001mfb.1 + 11 3534 c.3211C>T c.(3211-3213)Cca>Tca p.P1071S NM_176822 NP_789792 Q86W24 NAL14_HUMAN Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA. 1071 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AGTTAGCAATCCACACTTAAT 0.403000 65 11 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95720901 95720901 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:95720901G>A uc009xuj.2 - 0 772 c.253C>T c.(253-255)Cgt>Tgt p.R85C Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA. GTCTTGAAACGAAAGGCATTG 0.498000 125 10 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209190193 209190193 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:209190193C>T uc002vcz.3 + 19 2816 c.2658C>T c.(2656-2658)aaC>aaT p.N886N PIKFYVE_uc010fun.1_Silent_p.N567N|PIKFYVE_uc002vcy.1_Silent_p.N830N NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA. 886 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 TAATGCAAAACCCTTCATTCC 0.468000 65 7 0 0 1 0 0 AP2B1 163 broad.mit.edu 37 17 33984729 33984729 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:33984729C>T uc002hjr.3 + 13 2097 c.1908C>T c.(1906-1908)ctC>ctT p.L636L AP2B1_uc002hjq.3_Silent_p.L636L|AP2B1_uc010wci.2_Silent_p.L598L|AP2B1_uc002hjs.3_Silent_p.L579L|AP2B1_uc002hjt.3_Silent_p.L636L|AP2B1_uc010ctv.3_Silent_p.L636L|AP2B1_uc010wcj.2_Silent_p.L373L NM_001282 NP_001273 P63010 AP2B1_HUMAN Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA. 636 Pro-rich (stalk region). axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) ACCTTGACCTCGGTCCCCCAG 0.527000 108 9 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579382 82579382 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:82579382T>C uc003uhx.2 - 5 10811 c.10522A>G c.(10522-10524)Aaa>Gaa p.K3508E PCLO_uc003uhv.2_Missense_Mutation_p.K3508E|PCLO_uc010lec.3_Missense_Mutation_p.K473E NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3439 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GAAAGGGGTTTGGTCTTGTCA 0.473000 37 6 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76023945 76023945 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:76023945C>T uc010kbe.3 - 5 2142 c.1612G>A c.(1612-1614)Gtg>Atg p.V538M FILIP1_uc003phy.1_Missense_Mutation_p.V535M|FILIP1_uc003phz.3_Missense_Mutation_p.V436M|FILIP1_uc003pia.3_Missense_Mutation_p.V535M|FILIP1_uc003pib.1_Missense_Mutation_p.V287M NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 535 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 CCTTGTTCCACCTTAAAATTT 0.294000 23 3 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993283 140993283 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:140993283C>T uc004fbt.3 + 3 417 c.93C>T c.(91-93)tcC>tcT p.S31S MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_5'Flank NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 31 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GGGAGGACTCCCAGTCTCCTC 0.582000 HNSCC(15;0.026) 71 12 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39496021 39496021 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:39496021C>T uc003xni.3 + 9 920 c.865C>T c.(865-867)Cct>Tct p.P289S ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.P265S NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 289 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding p.P289S(2)|p.P289F(2)|p.P289L(1) NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) AGCAACATTTCCTGGCACTGT 0.274000 47 3 0 0 1 0 0 SEPP1 6414 broad.mit.edu 37 5 42801031 42801031 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:42801031C>T uc011cps.2 - 5 1125 c.1027G>A c.(1027-1029)Ggg>Agg p.G343R CCDC152_uc003jmx.3_3'UTR|CCDC152_uc011cpr.1_3'UTR|SEPP1_uc011cpt.2_Missense_Mutation_p.G313R|SEPP1_uc011cpu.2_Missense_Mutation_p.G313R|SEPP1_uc003jna.3_Non-coding_Transcript NM_001093726 P49908 SEPP1_HUMAN Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA. 313 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 ATTGCAGACCCTGTTTTTTCA 0.433000 98 4 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394618 233394618 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:233394618G>A uc001hvl.2 - 4 1225 c.990C>T c.(988-990)tcC>tcT p.S330S PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 330 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CTACCTGACAGGATGTGTCTG 0.557000 74 4 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299509 125299509 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:125299509G>A uc004euk.2 - 0 572 c.399C>T c.(397-399)atC>atT p.I133I NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA. 133 p.R132L(1) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 GCATGAGGGGGATGCGCGTGA 0.642000 63 11 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87082366 87082366 + Nonsense_Mutation SNP G A A rs72552780 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:87082366G>A uc003uiv.1 - 5 506 c.430C>T c.(430-432)Cga>Tga p.R144* ABCB4_uc003uiw.1_Nonsense_Mutation_p.R144*|ABCB4_uc003uix.1_Nonsense_Mutation_p.R144*|ABCB4_uc003uiy.3_Nonsense_Mutation_p.R144* NM_018849 NP_061337 P21439 MDR3_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA. 144 ABC transmembrane type-1 1. cellular lipid metabolic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CTGATCTGTCGACCAGCTGCC 0.408000 74 9 0 0 1 0 0 MAML2 84441 broad.mit.edu 37 11 95826438 95826438 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:95826438G>A uc001pfw.1 - 1 2042 c.757C>T c.(757-759)Cct>Tct p.P253S NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA. 253 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CCATTGCCAGGAGAATGTGTA 0.478000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 55 5 0 0 1 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555239 44555239 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:44555239G>A uc010xdb.2 - 0 1211 c.975C>T c.(973-975)ggC>ggT p.G325G KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA. 325 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding p.S324S(1) NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 CAGGCCTGGAGCCCGAGTACA 0.672000 301 8 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3937374 3937374 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:3937374G>A uc002fxe.3 - 39 6583 c.6519C>T c.(6517-6519)tcC>tcT p.S2173S ZZEF1_uc002fxh.3_Silent_p.S487S|ZZEF1_uc002fxi.3_Silent_p.S408S|ZZEF1_uc002fxj.1_Silent_p.S786S NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 2173 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CTGGCACAATGGAACTGTCCC 0.552000 230 29 0 0 1 0 0 OR5K1 26339 broad.mit.edu 37 3 98188459 98188459 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:98188459C>T uc003dsm.3 + 0 39 c.39C>T c.(37-39)atC>atT p.I13I NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA. 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATGAGTTTATCCTCACAGGAT 0.398000 66 6 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72047535 72047535 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:72047535G>A uc004ahh.2 - 11 2635 c.2359C>T c.(2359-2361)Cgg>Tgg p.R787W NM_001163 NP_001154 Q02410 APBA1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA. 787 PDZ 2. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TCAATGATCCGGTGCCCCACA 0.582000 88 14 0 0 1 0 0 CYP7B1 9420 broad.mit.edu 37 8 65517261 65517261 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:65517261G>A uc003xvj.2 - 4 1415 c.1211C>T c.(1210-1212)cCt>cTt p.P404L NM_004820 NP_004811 O75881 CP7B1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA. 404 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AAAGATTTCAGGGTCACCATG 0.473000 98 5 0 0 1 0 0 STAC 6769 broad.mit.edu 37 3 36547238 36547239 + Splice_Site DNP GG AT AT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:36547238_36547239GG>AT uc003cgh.1 + 8 871 c.832_splice c.e8-1 p.G278_splice STAC_uc010hgd.1_Splice_Site|STAC_uc011aya.1_Splice_Site_p.G217_splice NM_003149 NP_003140 Q99469 STAC_HUMAN Homo sapiens SH3 and cysteine rich domain (STAC), mRNA. 278 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 tctctttcAGGGATCTCTTTCC 0.337000 26 5 0 0 1 0 0 ESX1 80712 broad.mit.edu 37 X 103499527 103499528 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:103499527_103499528CC>TT uc004ely.3 - 0 72_73 c.3_4GG>AA c.(1-6)atggag>atAAag p.1_2ME>IK NM_153448 NP_703149 Q8N693 ESX1_HUMAN Homo sapiens ESX homeobox 1 (ESX1), mRNA. 1 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 CGAAGAGACTCCATGCTTCAAG 0.589000 143 32 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5456813 5456813 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:5456813G>A uc002gci.3 - 4 2976 c.2421C>T c.(2419-2421)acC>acT p.T807T NLRP1_uc002gcg.1_Silent_p.T807T|NLRP1_uc002gch.4_Silent_p.T807T|NLRP1_uc002gck.3_Silent_p.T807T|NLRP1_uc002gcj.3_Silent_p.T807T|NLRP1_uc002gcl.3_Silent_p.T807T|NLRP1_uc010clh.3_Silent_p.T807T NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 807 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|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) TCAGGTTTCTGGTGACCTTGA 0.547000 54 4 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21457393 21457393 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:21457393A>G uc001rer.3 - 4 808 c.557T>C c.(556-558)tTt>tCt p.F186S SLCO1A2_uc010siq.2_Missense_Mutation_p.F54S|SLCO1A2_uc001res.3_Missense_Mutation_p.F186S|SLCO1A2_uc010sio.2_Missense_Mutation_p.F54S|SLCO1A2_uc010sip.2_Missense_Mutation_p.F54S|SLCO1A2_uc001ret.3_Missense_Mutation_p.F184S|SLCO1A2_uc001reu.2_Missense_Mutation_p.F166S NM_021094 NP_602307 P46721 SO1A2_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA. 186 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 AAATTTGGCAAAATCTTCTAT 0.353000 52 3 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138566304 138566304 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:138566304G>A uc011kql.2 - 10 4108 c.4059C>T c.(4057-4059)ttC>ttT p.F1353F KIAA1549_uc011kqi.2_Silent_p.F137F|KIAA1549_uc011kqk.2_Silent_p.F137F|KIAA1549_uc011kqj.2_Silent_p.F1353F NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 1353 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TAGCAAAATCGAAGCCCTTCA 0.488000 O BRAF pilocytic astrocytoma 24 4 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53419612 53419612 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:53419612G>A uc001vhi.3 - 1 2991 c.2787C>T c.(2785-2787)tcC>tcT p.S929S PCDH8_uc001vhj.3_Silent_p.S832S NM_002590 NP_002581 O95206 PCDH8_HUMAN Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA. 929 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CGCTGATGTCGGAATCGCTGT 0.522000 105 11 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56468631 56468631 + Silent SNP G A A rs141688594 by1000genomes TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:56468631G>A uc021wzo.1 - 0 545 c.405C>T c.(403-405)gtC>gtT p.V135V ERC2_uc003dhr.1_Silent_p.V135V NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 135 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) ACATGGAGGGGACCTGGTGGT 0.507000 146 15 0 0 1 0 0 ISLR 3671 broad.mit.edu 37 15 74468048 74468048 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:74468048C>T uc002axg.1 + 1 1131 c.849C>T c.(847-849)ccC>ccT p.P283P ISLR_uc002axh.1_Silent_p.P283P|ISLR_uc021sqf.1_Silent_p.P283P NM_005545 NP_958934 O14498 ISLR_HUMAN Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA. 283 Ig-like. cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 TCACCAGCCCCAACGTGGGCA 0.637000 188 14 0 0 1 0 0 ANKFY1 51479 broad.mit.edu 37 17 4088262 4088262 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:4088262G>A uc002fxn.3 - 11 1793 c.1676C>T c.(1675-1677)cCa>cTa p.P559L ANKFY1_uc002fxo.3_Missense_Mutation_p.P517L|ANKFY1_uc002fxp.3_Missense_Mutation_p.P516L|ANKFY1_uc010ckp.3_Missense_Mutation_p.P458L|ANKFY1_uc002fxq.1_Missense_Mutation_p.P517L NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA. 517 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 CTGCAGGTTTGGGTTGGCGCC 0.627000 87 8 0 0 1 0 0 SERPINA11 256394 broad.mit.edu 37 14 94912840 94912840 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:94912840C>T uc001ydd.1 - 2 805 c.745G>A c.(745-747)Gaa>Aaa p.E249K NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA. 249 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.A248V(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) CTGTGCATTTCCTTTTGGTGC 0.527000 91 9 0 0 1 0 0 EPHX2 2053 broad.mit.edu 37 8 27399008 27399008 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:27399008C>T uc003xfu.3 + 15 1479 c.1398C>T c.(1396-1398)taC>taT p.Y466Y EPHX2_uc010luv.3_Silent_p.Y400Y|EPHX2_uc003xfv.3_Silent_p.Y413Y|EPHX2_uc010luw.3_Silent_p.Y400Y NM_001979 NP_001970 P34913 HYES_HUMAN Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA. 466 Epoxide hydrolase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) TAAACTGGTACCGAAACATGG 0.537000 92 8 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42236751 42236751 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:42236751G>A uc003ose.2 - 4 1141 c.578C>T c.(577-579)cCa>cTa p.P193L TRERF1_uc011duq.1_Missense_Mutation_p.P193L|TRERF1_uc003osb.2_Missense_Mutation_p.P32L|TRERF1_uc003osc.2_Missense_Mutation_p.P32L|TRERF1_uc003osd.2_Missense_Mutation_p.P193L NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 193 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding p.P192L(1) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGCCGGTGCTGGGGGCTCCAT 0.622000 71 13 0 0 1 0 0 CENPE 1062 broad.mit.edu 37 4 104080213 104080213 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:104080213T>A uc003hxb.1 - 21 2645 c.2555A>T c.(2554-2556)aAa>aTa p.K852I CENPE_uc003hxc.1_Missense_Mutation_p.K827I NM_001813 NP_001804 Q02224 CENPE_HUMAN Homo sapiens centromere protein E, 312kDa (CENPE), mRNA. 852 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTGGGCTTCTTTAGAGAGATT 0.378000 35 4 0 0 1 0 0 LOC100101266 100101266 broad.mit.edu 37 19 24346135 24346135 + RNA SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:24346135T>G uc010edb.1 - 0 c.115A>C Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA. AGTGGCAGGGTAGCGTGATAG 0.488000 9 3 0 0 1 0 0 DCST2 127579 broad.mit.edu 37 1 154996433 154996433 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:154996433C>T uc001fgm.3 - 11 1825 c.1745G>A c.(1744-1746)tGc>tAc p.C582Y DCST2_uc009wpb.3_Non-coding_Transcript NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA. 582 integral to membrane p.R581W(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TAGGCAGGGGCACCTGAGAAA 0.592000 25 3 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29562747 29562747 + Missense_Mutation SNP G A A rs137854556 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:29562747G>A uc002hgg.3 + 27 4210 c.3827G>A c.(3826-3828)cGa>cAa p.R1276Q NF1_uc002hgh.3_Missense_Mutation_p.R1276Q|NF1_uc010csn.2_Missense_Mutation_p.R1136Q|NF1_uc002hgi.1_Missense_Mutation_p.R309Q NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 1276 Ras-GAP. R -> G (in NF1).|R -> P (in NF1; complete loss of GAP activity).|R -> Q (in NF1 and mismatch repair deficient cancer cells). MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(4)|p.R1276Q(4)|p.R1276*(3)|p.F1275fs*8(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ACTCTCTTCCGAGGCAACAGC 0.398000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 174 14 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217378 150217378 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:150217378G>A uc003whk.3 + 1 446 c.316G>A c.(316-318)Gag>Aag p.E106K GIMAP7_uc022apu.1_Missense_Mutation_p.E106K NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA. 106 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCGCTACACAGAGGAGGAGCA 0.547000 74 5 0 0 1 0 0 KIAA1804 84451 broad.mit.edu 37 1 233518169 233518169 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:233518169C>T uc001hvt.4 + 9 3084 c.2823C>T c.(2821-2823)atC>atT p.I941I KIAA1804_uc001hvu.4_Silent_p.I387I NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA. 941 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4) 52 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) CTGTCCACATCGTGCCTCAGC 0.612000 95 13 0 0 1 0 0 GAR1 54433 broad.mit.edu 37 4 110745161 110745161 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:110745161C>T uc003hzt.3 + 5 919 c.612C>T c.(610-612)ttC>ttT p.F204F GAR1_uc003hzu.3_Silent_p.F204F|GAR1_uc010imi.3_Silent_p.F186F NM_018983 NP_127460 Q9NY12 GAR1_HUMAN Homo sapiens GAR1 ribonucleoprotein homolog (yeast) (GAR1), transcript variant 1, mRNA. 204 RGG-box 2. rRNA processing|snRNA pseudouridine synthesis Cajal body|box H/ACA snoRNP complex cation channel activity|pseudouridine synthase activity|snoRNA binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 9 GTGGGGGCTTCAGAGGAGGAA 0.313000 140 8 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54337720 54337720 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:54337720C>T uc004dtc.2 - 2 981 c.542G>A c.(541-543)cGa>cAa p.R181Q WNK3_uc004dtd.2_Missense_Mutation_p.R181Q NM_020922 NP_065973 Q9BYP7 WNK3_HUMAN Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA. 181 Protein kinase. intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 GGTTAACTTTCGGTCCTGAAA 0.378000 21 4 0 0 1 0 0 OR2A14 135941 broad.mit.edu 37 7 143826330 143826330 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:143826330G>A uc011kua.2 + 0 125 c.125G>A c.(124-126)gGg>gAg p.G42E NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA. 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) CTGGGGAATGGGGTCATCTTT 0.502000 174 19 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5172912 5172912 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:5172912G>A uc010qyy.2 - 0 688 c.688C>T c.(688-690)Cgt>Tgt p.R230C NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA. 230 sensory perception of smell integral to plasma membrane olfactory receptor activity p.R230H(1) breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGGCAAACGAAAAACTGTG 0.423000 99 7 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215890453 215890453 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:215890453G>A uc002vew.3 - 10 1451 c.1231C>T c.(1231-1233)Cgc>Tgc p.R411C ABCA12_uc002vev.3_Missense_Mutation_p.R93C|ABCA12_uc010zjn.2_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 411 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GAACCATTGCGAAGAAAAGAT 0.313000 58 3 0 0 1 0 0 CAPN5 726 broad.mit.edu 37 11 76830114 76830114 + Silent SNP G T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:76830114G>T uc009yup.3 + 9 1511 c.1326G>T c.(1324-1326)ctG>ctT p.L442L CAPN5_uc001oxx.3_Silent_p.L402L|CAPN5_uc009yuq.3_Silent_p.L438L|CAPN5_uc001oxy.3_Silent_p.L442L|CAPN5_uc001oya.3_5'Flank NM_004055 NP_004046 O15484 CAN5_HUMAN Homo sapiens calpain 5 (CAPN5), mRNA. 402 Domain III. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 ATGAAGTCCTGATCTGCATCC 0.577000 37 3 1 1 1 1 0 DSCAM 1826 broad.mit.edu 37 21 41385037 41385037 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:41385037G>A uc002yyq.1 - 32 6415 c.5963C>T c.(5962-5964)tCc>tTc p.S1988F DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1988 HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.S1988F(2) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGATTCTTGGGAGCTGCTCAT 0.562000 52 10 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158324309 158324309 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:158324309G>A uc001fse.3 + 1 494 c.201G>A c.(199-201)tgG>tgA p.W67* CD1E_uc010pid.2_Nonsense_Mutation_p.W65*|CD1E_uc010pie.2_Intron|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Nonsense_Mutation_p.W67*|CD1E_uc001fsf.3_Nonsense_Mutation_p.W67*|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Intron|CD1E_uc001fsj.3_Nonsense_Mutation_p.W67*|CD1E_uc001fsk.3_Nonsense_Mutation_p.W67*|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Nonsense_Mutation_p.W67*|CD1E_uc001frz.3_Nonsense_Mutation_p.W67*|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA. 67 antigen processing and presentation|immune response Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CTCATGGCTGGGACACTGTCT 0.542000 65 5 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37188446 37188446 + RNA SNP G A A rs35288784 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:37188446G>A uc002hrd.1 + 0 c.2288G>A Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA. AAACCTGACTGAAGTCACAGG 0.478000 147 7 0 0 1 0 0 ABP1 26 broad.mit.edu 37 7 150553935 150553935 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:150553935G>A uc003why.1 + 2 4595 c.377G>A c.(376-378)cGa>cAa p.R126Q ABP1_uc003whz.1_Missense_Mutation_p.R126Q|ABP1_uc003wia.1_Missense_Mutation_p.R126Q NM_001091 NP_001082 P19801 ABP1_HUMAN Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA. 126 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) TGCTACATGCGAGCACTGTCC 0.637000 87 7 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21390383 21390383 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:21390383G>A uc002kuq.3 + 12 1743 c.1657G>A c.(1657-1659)Gga>Aga p.G553R LAMA3_uc002kur.3_Missense_Mutation_p.G553R NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 553 Domain V.|Laminin EGF-like 5. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCAGTGACTGGACAGTGTGA 0.542000 101 9 0 0 1 0 0 ELOVL4 6785 broad.mit.edu 37 6 80626362 80626362 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:80626362C>T uc003pja.4 - 5 1227 c.908G>A c.(907-909)gGa>gAa p.G303E ELOVL4_uc011dyt.2_Non-coding_Transcript NM_022726 NP_073563 Q9GZR5 ELOV4_HUMAN Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA. 303 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) CTGCTTTTTTCCATTTTCTAT 0.343000 45 5 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810754 123810754 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:123810754T>C uc001pzk.1 + 0 431 c.431T>C c.(430-432)cTt>cCt p.L144P NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA. 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TGTGCACTCCTTATGGCAGCC 0.517000 75 5 0 0 1 0 0 OR6C65 403282 broad.mit.edu 37 12 55794908 55794908 + Nonsense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:55794908T>A uc010spl.2 + 0 596 c.596T>A c.(595-597)tTg>tAg p.L199* NM_001005518 NP_001005518 A6NJZ3 O6C65_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA. 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 ATGGCATTTTTGCTAGCAGTA 0.438000 224 16 0 0 1 0 0 CARKD 55739 broad.mit.edu 37 13 111274599 111274599 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:111274599C>T uc001vrc.3 + 1 228 c.137C>T c.(136-138)tCg>tTg p.S46L CARKD_uc010tji.2_Missense_Mutation_p.S28L|CARKD_uc010tjj.2_Missense_Mutation_p.S28L|CARKD_uc001vqz.3_Non-coding_Transcript|CARKD_uc001vra.3_Non-coding_Transcript|CARKD_uc010tjk.2_Intron|CARKD_uc010tjl.2_Intron|CARKD_uc001vrb.3_Missense_Mutation_p.S46L NM_018210 NP_060680 Q8IW45 CARKD_HUMAN Homo sapiens carbohydrate kinase domain containing (CARKD), transcript variant 1, mRNA. 46 NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 15 AAAGCACATTCGATAAAGGAT 0.363000 29 6 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153905201 153905201 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:153905201G>A uc001fdd.1 - 22 4077 c.3676C>T c.(3676-3678)Cct>Tct p.P1226S NM_014856 NP_055671 O75064 DEN4B_HUMAN Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA. 1226 p.P1114S(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGACCACCAGGGACAGGAGCA 0.622000 71 8 0 0 1 0 0 C10orf2 56652 broad.mit.edu 37 10 102748367 102748367 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:102748367G>A uc001ksf.2 + 0 1075 c.400G>A c.(400-402)Gat>Aat p.D134N MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Missense_Mutation_p.D134N|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript NM_021830 NP_068602 Q96RR1 PEO1_HUMAN Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA. 134 cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) GGGGCGAGGGGATGGGGCCAG 0.592000 265 23 0 0 1 0 0 FBXL12 54850 broad.mit.edu 37 19 9922061 9922061 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9922061G>A uc002mme.3 - 2 734 c.492C>T c.(490-492)ttC>ttT p.F164F FBXL12_uc002mmd.3_Silent_p.F111F|FBXL12_uc002mmf.3_Silent_p.F111F|FBXL12_uc002mmg.3_Silent_p.F111F NM_017703 NP_060173 Q9NXK8 FXL12_HUMAN Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA. 164 protein binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2) 10 GCTCGTCACGGAAGGCGGGGA 0.672000 60 8 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178563038 178563038 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:178563038C>T uc003mjw.3 - 12 2059 c.1957G>A c.(1957-1959)Gag>Aag p.E653K NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 653 Cys-rich. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TGGCATCTCTCCTTGGCTGGA 0.602000 163 16 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52704528 52704528 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:52704528C>T uc001cto.3 + 3 1611 c.1439C>T c.(1438-1440)tCc>tTc p.S480F ZFYVE9_uc001ctn.3_Missense_Mutation_p.S480F|ZFYVE9_uc001ctp.3_Missense_Mutation_p.S480F NM_004799 NP_004790 O95405 ZFYV9_HUMAN Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA. 480 SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity p.D479E(1) breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 GGTTGTGATTCCTATGGAATG 0.363000 73 8 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798166 55798166 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:55798166G>A uc010riw.2 + 0 272 c.272G>A c.(271-273)aGc>aAc p.S91N NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA. 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) TCCAGGAAAAGCATCTCTCCT 0.423000 44 6 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69692167 69692167 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:69692167G>A uc003hee.3 + 3 1064 c.1039G>A c.(1039-1041)Ggt>Agt p.G347S UGT2B10_uc011cam.2_Missense_Mutation_p.G263S NM_001075 NP_001066 P36537 UDB10_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA. 347 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 AGATGCCTTAGGTCTCAATAC 0.378000 89 9 0 0 1 0 0 OR1J1 347168 broad.mit.edu 37 9 125239753 125239753 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:125239753G>A uc011lyu.2 - 0 453 c.453C>T c.(451-453)atC>atT p.I151I OR1J2_uc004bmj.2_Intron NM_001004451 NP_001004451 Q8NGS3 OR1J1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA. 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16 ACGCACAAGCGATGACCCAGG 0.542000 22 4 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137707456 137707456 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:137707456C>T uc004cfe.3 + 50 4431 c.4049C>T c.(4048-4050)cCc>cTc p.P1350L NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 1350 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCTGGCCCCCCCGGAGAGCCT 0.627000 20 5 0 0 1 0 0 PDLIM1 9124 broad.mit.edu 37 10 96997851 96997851 + Missense_Mutation SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:96997851A>C uc001kkh.3 - 6 930 c.821T>G c.(820-822)cTg>cGg p.L274R NM_020992 NP_066272 O00151 PDLI1_HUMAN Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA. 274 LIM zinc-binding. response to oxidative stress cytoplasm|cytoskeleton zinc ion binding endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2) 10 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) ACGGTCCCGCAGCTTCACAAA 0.547000 32 3 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64453331 64453331 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:64453331C>T uc021qkw.1 - 5 1401 c.939G>A c.(937-939)gaG>gaA p.E313E NRXN2_uc021qkx.1_Silent_p.E289E|NRXN2_uc001oas.3_Silent_p.E289E|NRXN2_uc001oaq.3_5'UTR NM_015080 NP_055895 Q9P2S2 NRX2A_HUMAN Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA. 313 Laminin G-like 2. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CCAGTGTGATCTCATCAGTGC 0.572000 138 12 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121209031 121209031 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:121209031G>A uc003eee.4 - 15 2876 c.2747C>T c.(2746-2748)tCc>tTc p.S916F POLQ_uc003eed.3_Missense_Mutation_p.S88F NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 916 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CTTTACTTCGGACTCACTATG 0.348000 DNA polymerases (catalytic subunits) 88 19 0 0 1 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626095 140626095 + Missense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140626095C>A uc003lje.3 + 0 949 c.949C>A c.(949-951)Cta>Ata p.L317I NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN Homo sapiens protocadherin beta 15 (PCDHB15), mRNA. 317 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCGTATGATCTAGATATAGA 0.408000 170 14 2.23348e-06 2.25121e-06 1 1 0 POFUT1 23509 broad.mit.edu 37 20 30804488 30804488 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:30804488C>T uc002wxp.3 + 3 555 c.506C>T c.(505-507)tCc>tTc p.S169F POFUT1_uc002wxo.3_Missense_Mutation_p.S169F|POFUT1_uc010ztt.2_Missense_Mutation_p.S61F|POFUT1_uc010ztu.2_Intron NM_015352 NP_056167 Q9H488 OFUT1_HUMAN Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA. 169 Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ACAGGCATTTCCTTCAGTGCT 0.507000 101 5 0 0 1 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433431 72433431 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:72433431C>T uc004ebi.3 - 0 1280 c.898G>A c.(898-900)Gag>Aag p.E300K NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA. 300 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) GTCAACAACTCATTTTTGAAA 0.413000 50 7 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150324822 150324822 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:150324822C>T uc022apv.1 - 2 1554 c.1074G>A c.(1072-1074)ggG>ggA p.G358G GIMAP6_uc003whn.3_Silent_p.G288G|GIMAP6_uc003whm.3_3'UTR NM_001244072 NP_001231001 Q6P9H5 GIMA6_HUMAN Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA. 288 GTP binding p.G288G(1) endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGTCAGCCTTCCCCAGCAGGC 0.582000 118 4 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4869526 4869526 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:4869526C>T uc010qyo.2 - 0 913 c.913G>A c.(913-915)Gag>Aag p.E305K NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA. 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TTTCTAATCTCCTTCATCTTG 0.468000 70 6 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42236591 42236591 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:42236591C>T uc003ose.2 - 4 1301 c.738G>A c.(736-738)caG>caA p.Q246Q TRERF1_uc011duq.1_Silent_p.Q246Q|TRERF1_uc003osb.2_Silent_p.Q85Q|TRERF1_uc003osc.2_Silent_p.Q85Q|TRERF1_uc003osd.2_Silent_p.Q246Q NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 246 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCTGTCCTCCCTGCACTGGCA 0.607000 83 6 0 0 1 0 0 MED15 51586 broad.mit.edu 37 22 20936973 20936973 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:20936973C>T uc002zsp.3 + 9 1428 c.1348C>T c.(1348-1350)Cct>Tct p.P450S MED15_uc002zsq.3_Missense_Mutation_p.P410S|MED15_uc010gso.3_Missense_Mutation_p.P393S|MED15_uc002zsr.3_Missense_Mutation_p.P384S|MED15_uc011ahs.2_Missense_Mutation_p.P384S|MED15_uc002zss.3_Missense_Mutation_p.P329S|MED15_uc011ahu.2_Missense_Mutation_p.P160S|MED15_uc002zst.3_Missense_Mutation_p.P66S|MED15_uc002zsu.3_Missense_Mutation_p.P55S NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA. 450 Poly-Pro.|Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) GTCGATGCCCCCTCCCCCCCA 0.731000 29 8 0 0 1 0 0 DHODH 1723 broad.mit.edu 37 16 72057476 72057476 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:72057476C>T uc002fbp.3 + 7 1098 c.1077C>T c.(1075-1077)acC>acT p.T359T NM_001361 NP_001352 Q02127 PYRD_HUMAN Homo sapiens dihydroorotate dehydrogenase (quinone) (DHODH), nuclear gene encoding mitochondrial protein, mRNA. 359 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|pyrimidine nucleoside biosynthetic process integral to membrane|mitochondrial inner membrane dihydroorotate oxidase activity breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1) 10 Ovarian(137;0.125) Atovaquone(DB01117)|Leflunomide(DB01097) CGGCCCTCACCTTCTGGGGGC 0.607000 66 8 0 0 1 0 0 BMX 660 broad.mit.edu 37 X 15526477 15526477 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:15526477A>G uc004cww.3 + 1 189 c.1A>G c.(1-3)Atg>Gtg p.M1V BMX_uc004cwx.4_Missense_Mutation_p.M1V|BMX_uc004cwy.4_Missense_Mutation_p.M1V NM_203281 NP_975010 P51813 BMX_HUMAN Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA. 1 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) GGATGATAATATGGATACAAA 0.289000 12 2 0 0 1 0 0 SOS2 6655 broad.mit.edu 37 14 50606768 50606768 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:50606768C>T uc001wxs.4 - 16 2775 c.2677G>A c.(2677-2679)Gaa>Aaa p.E893K SOS2_uc010tql.2_Missense_Mutation_p.E860K|SOS2_uc010tqm.1_Non-coding_Transcript NM_006939 NP_008870 Q07890 SOS2_HUMAN Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA. 893 Ras-GEF. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) CTTTTCCTTTCCTGCAGTGCC 0.274000 32 4 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 131976441 131976441 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:131976441G>A uc002tsn.2 + 0 518 c.466G>A c.(466-468)Gat>Aat p.D156N PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 156 ATP binding CCCCAGAAAGGATCTCATCGT 0.572000 212 11 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24373066 24373066 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:24373066G>A uc002dmf.3 + 3 2032 c.830G>A c.(829-831)gGg>gAg p.G277E NM_006539 NP_006530 O60359 CCG3_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA. 277 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity p.M276I(1) NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) ATCACCATGGGGACCCTCCTC 0.547000 128 9 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135614509 135614509 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:135614509G>A uc003yup.3 - 5 1639 c.1453C>T c.(1453-1455)Cag>Tag p.Q485* ZFAT_uc003yun.3_Nonsense_Mutation_p.Q473*|ZFAT_uc003yuo.3_Nonsense_Mutation_p.Q473*|ZFAT_uc010meh.3_Nonsense_Mutation_p.Q473*|ZFAT_uc010mej.3_Nonsense_Mutation_p.Q423*|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Nonsense_Mutation_p.Q473*|ZFAT_uc003yur.3_Nonsense_Mutation_p.Q473* NM_020863 NP_001161055 Q9P243 ZFAT_HUMAN Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA. 485 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) AAGGCCTCCTGGGCAGCCCCG 0.602000 44 6 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152276755 152276755 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:152276755C>T uc001ezu.1 - 2 10643 c.10607G>A c.(10606-10608)gGa>gAa p.G3536E NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3536 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AACACTGGATCCCTGGTTCCT 0.577000 Ichthyosis 240 20 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140723788 140723788 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140723788G>A uc003ljm.2 + 0 188 c.188G>A c.(187-189)gGa>gAa p.G63E PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.G63E NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 63 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGAGCGCGGAGTCCGCATC 0.612000 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 148 17 0 0 1 0 0 LOC646813 646813 broad.mit.edu 37 11 50378132 50378132 + RNA SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:50378132G>A uc001nhe.2 + 4 c.762G>A LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA. AGAAGAAGAAGGATAAGGATG 0.398000 28 7 0 0 1 0 0 FNDC3B 64778 broad.mit.edu 37 3 172013287 172013287 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:172013287A>G uc003fhy.3 + 7 1156 c.984A>G c.(982-984)aaA>aaG p.K328K FNDC3B_uc003fhz.4_Silent_p.K328K|FNDC3B_uc003fia.3_Silent_p.K259K NM_022763 NP_073600 Q53EP0 FND3B_HUMAN Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA. 328 Fibronectin type-III 1. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) GAGATGGAAAATACAAGATAA 0.428000 78 11 0 0 1 0 0 RBM19 9904 broad.mit.edu 37 12 114395761 114395762 + Missense_Mutation DNP AG TA TA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:114395761_114395762AG>TA uc009zwi.2 - 5 809_810 c.665_666CT>TA c.(664-666)tct>tTA p.S222L RBM19_uc001tvn.4_Missense_Mutation_p.S222L|RBM19_uc001tvm.3_Missense_Mutation_p.S222L NM_001146699 NP_057280 Q9Y4C8 RBM19_HUMAN Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA. 222 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm RNA binding|nucleotide binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) CCTCCGAGGAAGAGGACGACCC 0.550000 132 14 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110520420 110520420 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:110520420G>A uc003yne.3 + 69 11426 c.11322G>A c.(11320-11322)ctG>ctA p.L3774L NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 3774 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTGAAAGTCTGGATCCTGACA 0.393000 HNSCC(38;0.096) 118 14 0 0 1 0 0 CCL1 6346 broad.mit.edu 37 17 32687585 32687586 + Nonsense_Mutation DNP CT TA TA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:32687585_32687586CT>TA uc002hid.1 - 2 355_356 c.283_284AG>TA c.(283-285)aga>TAa p.R95* NM_002981 NP_002972 P22362 CCL1_HUMAN Homo sapiens chemokine (C-C motif) ligand 1 (CCL1), mRNA. 95 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) TGCTCATTTTCTTTTTGACGGG 0.505000 70 5 0 0 1 0 0 DDX43 55510 broad.mit.edu 37 6 74123754 74123754 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:74123754G>A uc003pgw.3 + 12 1902 c.1558G>A c.(1558-1560)Gat>Aat p.D520N NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA. 520 Helicase C-terminal. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 TCTGCATGGAGATAGAGAACA 0.348000 70 7 0 0 1 0 0 PRSS54 221191 broad.mit.edu 37 16 58314173 58314173 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:58314173G>A uc002enf.3 - 6 1538 c.1143C>T c.(1141-1143)atC>atT p.I381I PRSS54_uc002eng.3_Silent_p.I381I|PRSS54_uc010vie.2_Silent_p.I282I|CCDC113_uc002ene.3_3'UTR|CCDC113_uc010vid.2_3'UTR NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN Homo sapiens protease, serine, 54 (PRSS54), mRNA. 381 proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AAACCAAGATGATTTCTTCGG 0.478000 82 5 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173526501 173526501 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:173526501C>T uc001giz.2 - 9 1616 c.1193G>A c.(1192-1194)cGa>cAa p.R398Q SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 398 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity p.R398Q(2) TTCCACTTTTCGTTCAGCGAG 0.363000 102 10 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62291010 62291010 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:62291010G>A uc001ntl.3 - 4 11179 c.10879C>T c.(10879-10881)Cct>Tct p.P3627S AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 3627 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCAGCTTTAGGGAGGGTAACA 0.483000 236 20 0 0 1 0 0 CHURC1-FNTB 100529261 broad.mit.edu 37 14 65381176 65381176 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:65381176G>A uc010tsl.2 + 0 98 c.44G>A c.(43-45)cGg>cAg p.R15Q CHURC1-FNTB_uc010tsk.2_Missense_Mutation_p.R15Q|CHURC1-FNTB_uc010tsj.2_Missense_Mutation_p.R15Q|CHURC1-FNTB_uc010tsm.2_5'UTR|CHURC1-FNTB_uc021rup.1_Missense_Mutation_p.R15Q|CHURC1-FNTB_uc001xhv.2_5'UTR|CHURC1-FNTB_uc001xhw.2_Missense_Mutation_p.R15Q NM_001202559 NP_001189488 B4DL54 B4DL54_HUMAN Homo sapiens CHURC1-FNTB readthrough (CHURC1-FNTB), transcript variant 1, mRNA. 0 multicellular organismal development|positive regulation of transcription, DNA-dependent transferase activity|zinc ion binding TCGTCTTCCCGGAAGCGTTGG 0.602000 176 13 0 0 1 0 0 CSRP3 8048 broad.mit.edu 37 11 19209744 19209744 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:19209744C>T uc001mpk.2 - 2 337 c.220G>A c.(220-222)Gga>Aga p.G74R NM_003476 NP_003467 P50461 CSRP3_HUMAN Homo sapiens cysteine and glycine-rich protein 3 (cardiac LIM protein) (CSRP3), transcript variant 1, mRNA. 74 Gly-rich. cell differentiation|skeletal muscle tissue development cytoskeleton|nucleus protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 GCGCCTTGTCCATACCCGATC 0.582000 149 12 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39914696 39914696 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:39914696G>A uc002hxq.2 - 9 2005 c.1728C>T c.(1726-1728)aaC>aaT p.N576N JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.N576N|JUP_uc002hxs.2_Silent_p.N576N NM_021991 NP_068831 P14923 PLAK_HUMAN Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA. 576 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) TCTCCATGCGGTTCATGGGGT 0.617000 121 15 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75037164 75037164 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:75037164C>T uc001dgg.3 - 13 4449 c.4230G>A c.(4228-4230)cgG>cgA p.R1410R NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 1410 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCTCCCCACTCCGTGCTAATT 0.552000 105 17 0 0 1 0 0 IBSP 3381 broad.mit.edu 37 4 88732864 88732864 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:88732864G>A uc003hqx.4 + 6 854 c.756G>A c.(754-756)ggG>ggA p.G252G NM_004967 NP_004958 P21815 SIAL_HUMAN Homo sapiens integrin-binding sialoprotein (IBSP), mRNA. 252 biomineral tissue development|cell adhesion|ossification breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) CACCTTTTGGGAAAACCACCA 0.502000 31 4 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596508 24596508 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:24596508C>T uc011djo.2 - 2 894 c.394G>A c.(394-396)Gac>Aac p.D132N KIAA0319_uc011djp.2_Missense_Mutation_p.D87N|KIAA0319_uc003neh.1_Missense_Mutation_p.D132N|KIAA0319_uc011djq.1_Missense_Mutation_p.D123N|KIAA0319_uc011djr.1_Missense_Mutation_p.D132N NM_001168375 NP_001161848 Q5VV43 K0319_HUMAN Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA. 132 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 TCAGGTGAGTCCCCCCAGATC 0.547000 76 9 0 0 1 0 0 CPNE9 151835 broad.mit.edu 37 3 9754728 9754728 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:9754728C>T uc021wst.1 + 9 786 c.615C>T c.(613-615)atC>atT p.I205I CPNE9_uc003bsd.3_Silent_p.I204I NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN Homo sapiens copine family member IX (CPNE9), mRNA. 205 C2 2. breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) CCTTCAGCATCCCTGTGCGGG 0.537000 66 6 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76734968 76734968 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:76734968C>T uc003pik.1 - 4 635 c.505G>A c.(505-507)Gaa>Aaa p.E169K NM_001563 NP_001554 Q17R60 IMPG1_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA. 169 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) GCAGATATTTCATCTTTTCTA 0.343000 51 4 0 0 1 0 0 ACOX1 51 broad.mit.edu 37 17 73951939 73951939 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:73951939G>A uc002jqe.3 - 4 989 c.628C>T c.(628-630)Cgt>Tgt p.R210C ACOX1_uc010wsq.2_Missense_Mutation_p.R172C|ACOX1_uc010wsr.2_Missense_Mutation_p.R142C|ACOX1_uc002jqf.3_Missense_Mutation_p.R210C NM_004035 NP_001171968 Q15067 ACOX1_HUMAN Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA. 210 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 CCGATTTCACGAATAGGTACG 0.403000 250 25 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9075542 9075542 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9075542G>A uc002mkp.3 - 2 12108 c.11904C>T c.(11902-11904)atC>atT p.I3968I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3970 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTGGGCTGGGATAGTGGAAT 0.493000 24 4 0 0 1 0 0 ALOX15 246 broad.mit.edu 37 17 4539212 4539212 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:4539212C>T uc002fyh.3 - 7 1028 c.1003G>A c.(1003-1005)Gat>Aat p.D335N ALOX15_uc010vsd.2_Missense_Mutation_p.D296N|ALOX15_uc010vse.2_Missense_Mutation_p.D357N NM_001140 NP_001131 P16050 LOX15_HUMAN Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA. 335 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) ATTGGGGGATCCGTAGGCAAG 0.607000 107 12 0 0 1 0 0 SPESP1 246777 broad.mit.edu 37 15 69238007 69238007 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:69238007G>A uc002arn.2 + 1 288 c.134G>A c.(133-135)cGa>cAa p.R45Q MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Intron|NOX5_uc002arp.2_Intron|NOX5_uc010bid.2_Intron NM_145658 NP_663633 Q6UW49 SPESP_HUMAN Homo sapiens sperm equatorial segment protein 1 (SPESP1), mRNA. 45 multicellular organismal development acrosomal vesicle breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 19 AACCTAGTACGAAGTGTTCCC 0.353000 90 5 0 0 1 0 0 BPIFA1 51297 broad.mit.edu 37 20 31827637 31827637 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:31827637G>A uc002wyt.4 + 3 419 c.349G>A c.(349-351)Gaa>Aaa p.E117K BPIFA1_uc002wyu.4_Missense_Mutation_p.E117K|BPIFA1_uc002wyv.3_Missense_Mutation_p.E117K NM_130852 NP_570913 Q9NP55 PLUNC_HUMAN Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA. 117 innate immune response extracellular region lipid binding CCAGCTGCTGGAACTTGGCCT 0.532000 236 20 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48918289 48918289 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:48918289G>A uc002pjc.4 + 6 1669 c.1581_splice c.e6+1 p.E527_splice NM_000836 NP_000827 O15399 NMDE4_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA. 527 E -> G (in a breast cancer sample; somatic mutation). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) TGATCGGGGAGGTGAGGGGGC 0.642000 95 10 0 0 1 0 0 OR9K2 441639 broad.mit.edu 37 12 55523681 55523681 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:55523681G>A uc010spe.2 + 0 129 c.129G>A c.(127-129)agG>agA p.R43R NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA. 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 CAGGCTTCAGGGTACGCCCAG 0.448000 74 6 0 0 1 0 0 KRT39 390792 broad.mit.edu 37 17 39122943 39122943 + Missense_Mutation SNP C G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:39122943C>G uc002hvo.1 - 0 202 c.166G>C c.(166-168)Gac>Cac p.D56H KRT39_uc010wfm.1_5'UTR NM_213656 NP_998821 Q6A163 K1C39_HUMAN Homo sapiens keratin 39 (KRT39), mRNA. 56 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) CAGCCCTGGTCCCAGGGAATT 0.507000 145 21 0 0 1 0 0 CLIC2 1193 broad.mit.edu 37 X 154508514 154508514 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:154508514G>A uc004fnf.3 - 4 756 c.506C>T c.(505-507)tCc>tTc p.S169F CLIC2_uc010nvj.1_Missense_Mutation_p.S187F NM_001289 NP_001280 O15247 CLIC2_HUMAN Homo sapiens chloride intracellular channel 2 (CLIC2), mRNA. 169 C-terminal.|Foot loop.|GST C-terminal. signal transduction chloride channel complex|cytoplasm|nucleus voltage-gated chloride channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 18 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TAGTCTTCTGGAAACTGGGGG 0.433000 31 7 0 0 1 0 0 GPR45 11250 broad.mit.edu 37 2 105859071 105859071 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:105859071G>A uc002tco.1 + 0 872 c.756G>A c.(754-756)caG>caA p.Q252Q NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA. 252 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 TGCAGCGGCAGCAACAGGTCA 0.652000 156 6 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19351455 19351455 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:19351455C>T uc002nlz.3 + 11 3552 c.3453C>T c.(3451-3453)atC>atT p.I1151I NCAN_uc002nma.3_5'UTR NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 1151 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) ACGACAGGATCGTGGAGAGAG 0.637000 161 8 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55711726 55711726 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:55711726C>T uc002qjq.3 - 6 1371 c.1298G>A c.(1297-1299)cGa>cAa p.R433Q PTPRH_uc010esv.3_Missense_Mutation_p.R255Q|PTPRH_uc002qjs.2_Missense_Mutation_p.R440Q NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA. 433 Fibronectin type-III 5. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R433R(1) breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TGTTGTGTTTCGGGTCTCTGT 0.542000 157 21 0 0 1 0 0 OR2M1P 388762 broad.mit.edu 37 1 248285922 248285922 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:248285922C>T uc001idy.1 + 0 485 c.485C>T c.(484-486)tCt>tTt p.S162F Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA. CACATGGGATCTGGAGAGGGT 0.448000 192 7 0 0 1 0 0 HFE2 148738 broad.mit.edu 37 1 145416641 145416641 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:145416641G>A uc001eni.2 + 3 1311 c.986G>A c.(985-987)cGa>cAa p.R329Q HFE2_uc001enk.2_Missense_Mutation_p.R216Q|HFE2_uc001enj.2_Missense_Mutation_p.R103Q|HFE2_uc001enl.2_Missense_Mutation_p.R103Q|HFE2_uc021oux.1_Missense_Mutation_p.R103Q NM_213653 NP_660320 Q6ZVN8 RGMC_HUMAN Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA. 329 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CGACTCTCTCGATCAGAGCGC 0.552000 60 11 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24435576 24435576 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:24435576G>A uc002rfe.2 - 32 4290 c.4032C>T c.(4030-4032)tcC>tcT p.S1344S ITSN2_uc002rff.2_Silent_p.S1317S NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA. 1344 DH. endocytosis|regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCAGGAAGCTGGAGAGGGGCA 0.572000 244 29 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222696060 222696060 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:222696060C>T uc001hnh.1 - 8 2116 c.2058G>A c.(2056-2058)aaG>aaA p.K686K NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN Homo sapiens HHIP-like 2 (HHIPL2), mRNA. 686 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) CTCTGGCTTTCTTCTTTGTAC 0.577000 327 12 0 0 1 0 0 LENG9 94059 broad.mit.edu 37 19 54973884 54973884 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:54973884C>T uc010yez.2 - 0 1011 c.892G>A c.(892-894)Ggt>Agt p.G298S NM_198988 NP_945339 Q96B70 LENG9_HUMAN Homo sapiens leukocyte receptor cluster (LRC) member 9 (LENG9), mRNA. 298 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5) 11 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) GCCGCAGGACCCCACTCGGCT 0.667000 42 3 0 0 1 0 0 CPNE5 57699 broad.mit.edu 37 6 36767754 36767754 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:36767754G>A uc003omr.1 - 3 344 c.277C>T c.(277-279)Cgt>Tgt p.R93C CPNE5_uc003oms.1_Missense_Mutation_p.R55C NM_020939 NP_065990 Q9HCH3 CPNE5_HUMAN Homo sapiens copine V (CPNE5), mRNA. 93 C2 1. central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 AGATCAAAACGGAGGTTCTGC 0.517000 74 4 0 0 1 0 0 AOC2 314 broad.mit.edu 37 17 41002212 41002212 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:41002212C>T uc002ibu.3 + 3 2153 c.2118C>T c.(2116-2118)ttC>ttT p.F706F AOC2_uc002ibt.3_Silent_p.F679F|AOC3_uc002ibv.3_5'Flank NM_009590 NP_033720 O75106 AOC2_HUMAN Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA. 706 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) CCTATAACTTCTTTGATGAGG 0.572000 266 28 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17051844 17051844 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:17051844C>T uc011awc.2 + 2 1078 c.982C>T c.(982-984)Cat>Tat p.H328Y PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Missense_Mutation_p.H210Y NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 336 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.H210Y(1) breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TGAGGTTTTTCATGAGCTTTG 0.338000 33 11 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207870992 207870992 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:207870992G>A uc001hga.4 + 5 1128 c.1007G>A c.(1006-1008)gGa>gAa p.G336E CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA. 336 Sushi 5. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 ACACCCCAGGGAGACTGGAGC 0.517000 159 6 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108139934 108139934 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:108139934C>T uc003dxa.1 - 29 3946 c.3889_splice c.e29+1 p.G1297_splice NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 1297 myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TACTTACTTACCACTCTCACT 0.468000 122 9 0 0 1 0 0 OR1L3 26735 broad.mit.edu 37 9 125438074 125438074 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:125438074C>T uc011lzb.2 + 0 666 c.666C>T c.(664-666)ctC>ctT p.L222L NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA. 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 TAAGAATTCTCATCGCTGTTC 0.463000 43 6 0 0 1 0 0 FAM155B 27112 broad.mit.edu 37 X 68748968 68748968 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:68748968G>A uc004dxk.3 + 1 1042 c.994G>A c.(994-996)Gaa>Aaa p.E332K NM_015686 NP_056501 O75949 F155B_HUMAN Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA. 332 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 CGACAATGAGGAAATGGTGTA 0.617000 13 4 0 0 1 0 0 ZIC5 85416 broad.mit.edu 37 13 100617672 100617672 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:100617672C>T uc001vom.1 - 1 2200 c.1951G>A c.(1951-1953)Gaa>Aaa p.E651K NM_033132 NP_149123 Q96T25 ZIC5_HUMAN Homo sapiens Zic family member 5 (ZIC5), mRNA. 651 cell differentiation nucleus DNA binding|zinc ion binding p.E651G(1) endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCGTAAATTTCCTCATCTTCA 0.473000 157 12 0 0 1 0 0 AADACL3 126767 broad.mit.edu 37 1 12785393 12785393 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:12785393G>A uc009vnn.1 + 3 716 c.483G>A c.(481-483)caG>caA p.Q161Q AADACL3_uc001aug.1_Silent_p.Q91Q NM_001103170 NP_001096640 Q5VUY0 ADCL3_HUMAN Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA. 161 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCCGGGCTCAGATCCTGATCT 0.537000 154 32 0 0 1 0 0 CCDC38 120935 broad.mit.edu 37 12 96272009 96272009 + Nonsense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:96272009C>A uc001tek.2 - 12 1492 c.1258G>T c.(1258-1260)Gaa>Taa p.E420* NM_182496 NP_872302 Q502W7 CCD38_HUMAN Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA. 420 breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GAATTAAATTCTCCAAAGCTA 0.348000 30 5 0.000157383 0.000158227 1 1 0 ABCC12 94160 broad.mit.edu 37 16 48177869 48177869 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:48177869G>A uc002efc.1 - 1 573 c.227C>T c.(226-228)aCc>aTc p.T76I ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.T76I|ABCC12_uc010vgj.1_Non-coding_Transcript NM_033226 NP_150229 Q96J65 MRP9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA. 76 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TGGGGGCAGGGTGTCTACGGT 0.527000 97 8 0 0 1 0 0 MRPS33 51650 broad.mit.edu 37 7 140710238 140710238 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:140710238G>A uc003vwd.4 - 1 352 c.196C>T c.(196-198)Cga>Tga p.R66* MRPS33_uc003vwe.4_Nonsense_Mutation_p.R66* NM_016071 NP_444263 Q9Y291 RT33_HUMAN Homo sapiens mitochondrial ribosomal protein S33 (MRPS33), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 66 translation mitochondrial small ribosomal subunit structural constituent of ribosome breast(2)|endometrium(1)|kidney(1) 4 Melanoma(164;0.00956) CCAAGAAATCGGAGCGTCTGC 0.418000 94 9 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73537506 73537506 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:73537506T>C uc001jrx.4 + 36 5296 c.4906T>C c.(4906-4908)Tat>Cat p.Y1636H NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 1639 Cadherin 16. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GCAGCCCCACTATGAGGTGCT 0.582000 23 3 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98392448 98392449 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:98392448_98392449GG>AA uc002syh.4 - 31 4406_4407 c.4177_4178CC>TT c.(4177-4179)cca>TTa p.P1393L NM_015348 NP_056163 Q92545 TM131_HUMAN Homo sapiens transmembrane protein 131 (TMEM131), mRNA. 1393 Lys-rich. integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 CTTCTTAGGTGGTTTCACCTTG 0.421000 47 7 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196726633 196726633 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:196726633C>T uc002utj.4 - 41 7645 c.7544G>A c.(7543-7545)cGa>cAa p.R2515Q NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2515 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTCCAAGAATCGTGAGGCAAC 0.378000 41 5 0 0 1 0 0 IZUMO1 284359 broad.mit.edu 37 19 49248969 49248969 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:49248969G>A uc002pkj.3 - 1 696 c.148C>T c.(148-150)Cac>Tac p.H50Y IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript NM_182575 NP_872381 Q8IYV9 IZUM1_HUMAN Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA. 50 fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) ATGGCTTTGTGATGCTTCGCA 0.547000 141 10 0 0 1 0 0 AK302694 0 broad.mit.edu 37 10 30987415 30987415 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:30987415C>T uc010qdx.1 + 3 687 c.145C>T c.(145-147)Cca>Tca p.P49S SubName: Full=cDNA FLJ59642, highly similar to Supervillin; GGGGAAAATTCCAAAGTGCTC 0.453000 49 6 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3640462 3640463 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:3640462_3640463GG>AA uc002cvp.2 - 11 3803_3804 c.3176_3177CC>TT c.(3175-3177)ccc>cTT p.P1059L NM_032444 NP_115820 Q8IY92 SLX4_HUMAN Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. 1059 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CACGGGACCGGGGTGTTGACAG 0.639000 Direct reversal of damage 151 6 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40434009 40434009 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:40434009G>A uc002omp.4 - 1 268 c.260C>T c.(259-261)tCg>tTg p.S87L NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 87 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GACCATGACCGACTCCCCGGG 0.557000 144 29 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39226748 39226748 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:39226748G>A uc003cjk.2 - 1 4418 c.4189C>T c.(4189-4191)Ccc>Tcc p.P1397S XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.P80S|XIRP1_uc021wvz.1_Missense_Mutation_p.P1397S NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 1397 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TGTAAGCTGGGCTGGCTATGT 0.597000 69 9 0 0 1 0 0 DBC1 1620 broad.mit.edu 37 9 121929824 121929824 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:121929824C>T uc004bkc.2 - 7 2280 c.1824G>A c.(1822-1824)tgG>tgA p.W608* NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 608 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 AAAATGTTTTCCACCGATTGC 0.557000 146 28 0 0 1 0 0 CERS1 10715 broad.mit.edu 37 19 18995068 18995068 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:18995068G>A uc002nki.1 - 2 490 c.418C>T c.(418-420)Ccg>Tcg p.P140S CERS1_uc002nkj.3_Missense_Mutation_p.P140S|CERS1_uc010ebx.3_Missense_Mutation_p.P42S NM_021267 NP_067090 P27544 CERS1_HUMAN Homo sapiens ceramide synthase 1 (CERS1), transcript variant 1, mRNA. 140 TLC. ceramide biosynthetic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane|microsome sphingosine N-acyltransferase activity endometrium(3)|lung(2) 5 GCCATGCCCGGCGTCCAGTCT 0.617000 23 3 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113448259 113448259 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:113448259C>T uc001tuj.3 + 10 2270 c.2130C>T c.(2128-2130)atC>atT p.I710I OAS2_uc001tui.1_3'UTR NM_016817 NP_058197 P29728 OAS2_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA. 710 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|RNA binding|nucleotidyltransferase activity NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GCCATAGAATCCTGAATAATA 0.403000 157 19 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124329689 124329689 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:124329689C>T uc001lgk.1 + 2 209 c.103C>T c.(103-105)Ccc>Tcc p.P35S DMBT1_uc001lgl.1_Missense_Mutation_p.P35S|DMBT1_uc001lgm.1_Missense_Mutation_p.P35S|DMBT1_uc021qaf.1_Missense_Mutation_p.P35S|DMBT1_uc021qag.1_Missense_Mutation_p.P35S|DMBT1_uc021qah.1_Missense_Mutation_p.P35S|DMBT1_uc009xzz.1_Missense_Mutation_p.P35S|DMBT1_uc010qtx.1_Missense_Mutation_p.P35S|DMBT1_uc009yaa.1_5'UTR NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 35 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTCACTGATTCCCTCGGAGGT 0.547000 148 15 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117977619 117977619 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:117977619G>A uc001two.2 - 9 1560 c.1505C>T c.(1504-1506)tCg>tTg p.S502L NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 531 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGTGCTGGCGAGGAGGGCGT 0.632000 88 7 0 0 1 0 0 RERGL 79785 broad.mit.edu 37 12 18242180 18242180 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:18242180G>A uc001rdq.3 - 1 232 c.38C>T c.(37-39)tCt>tTt p.S13F NM_024730 NP_079006 Q9H628 RERGL_HUMAN Homo sapiens RERG/RAS-like (RERGL), mRNA. 13 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity p.S13F(3) endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 AACAGAAACAGATTTCTCATT 0.333000 21 3 0 0 1 0 0 PADI1 29943 broad.mit.edu 37 1 17559376 17559377 + Missense_Mutation DNP CT TA TA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:17559376_17559377CT>TA uc001bah.1 + 10 1316_1317 c.1224_1225CT>TA c.(1222-1227)tccttc>tcTAtc p.F409I PADI1_uc010oco.1_5'Flank|PADI1_uc010ocp.1_5'Flank|PADI1_uc010ocq.1_5'Flank NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA. 409 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GCCTTGACTCCTTCGGCAACCT 0.644000 45 7 0 0 1 0 0 GBP7 388646 broad.mit.edu 37 1 89615201 89615201 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:89615201G>A uc001dna.2 - 6 1065 c.926C>T c.(925-927)cCt>cTt p.P309L GBP2_uc001dmy.1_Non-coding_Transcript NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN Homo sapiens guanylate binding protein 7 (GBP7), mRNA. 309 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) CTCCAGACAAGGAGTCGCTCC 0.527000 61 9 0 0 1 0 0 HEATR8 374977 broad.mit.edu 37 1 55174698 55174698 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:55174698C>T uc010ooe.1 + 22 4003 c.3679C>T c.(3679-3681)Ccc>Tcc p.P1227S HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Missense_Mutation_p.P745S|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.P428S NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA. 1227 integral to membrane binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GTCCCTGGTCCCCTGCATGGA 0.527000 175 22 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29295971 29295971 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:29295971G>A uc002rmt.2 - 0 1157 c.1157C>T c.(1156-1158)cCc>cTc p.P386L NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA. 386 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CTCTGTGTGGGGTGAAGTCAC 0.597000 72 5 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125320882 125320882 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:125320882G>A uc010flu.3 + 10 2102 c.1738G>A c.(1738-1740)Ggt>Agt p.G580S CNTNAP5_uc002tno.3_Missense_Mutation_p.G579S NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 579 EGF-like 1. cell adhesion|signal transduction integral to membrane receptor binding p.G579S(2) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) AAGTTACACTGGTGCCACCTG 0.458000 7 3 0 0 1 0 0 KRT23 25984 broad.mit.edu 37 17 39084769 39084769 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:39084769C>T uc002hvm.1 - 4 1316 c.727G>A c.(727-729)Gat>Aat p.D243N KRT23_uc010wfl.1_Missense_Mutation_p.D106N|KRT23_uc010cxf.1_Missense_Mutation_p.D30N|KRT23_uc010cxg.3_Missense_Mutation_p.D243N|KRT23_uc002hvn.1_Missense_Mutation_p.D243N NM_015515 NP_056330 Q9C075 K1C23_HUMAN Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA. 243 Coil 2.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) TGTCTCATATCCTCCAGGACC 0.388000 158 15 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189586422 189586422 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:189586422G>A uc003fry.2 + 7 1135 c.1046G>A c.(1045-1047)gGa>gAa p.G349E TP63_uc003frx.2_Missense_Mutation_p.G349E|TP63_uc003frz.2_Missense_Mutation_p.G349E|TP63_uc010hzc.1_Missense_Mutation_p.G349E|TP63_uc003fsa.2_Missense_Mutation_p.G255E|TP63_uc003fsb.2_Missense_Mutation_p.G255E|TP63_uc003fsc.2_Missense_Mutation_p.G255E|TP63_uc003fsd.2_Missense_Mutation_p.G255E|TP63_uc021xir.1_Missense_Mutation_p.G255E|TP63_uc010hzd.1_Missense_Mutation_p.G170E|TP63_uc003fse.1_Missense_Mutation_p.G230E NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 349 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GCTTGCCCAGGAAGAGACAGG 0.488000 HNSCC(45;0.13) 54 8 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32613921 32613921 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:32613921G>A uc003xiv.2 + 9 1321 c.804_splice c.e9-1 p.K268_splice NRG1_uc022ats.1_Splice_Site_p.K218_splice|NRG1_uc011lbf.1_Splice_Site_p.K265_splice|NRG1_uc010lvo.2_Splice_Site_p.K265_splice|NRG1_uc003xiu.2_Splice_Site_p.K273_splice|NRG1_uc003xiw.2_Splice_Site_p.K265_splice|NRG1_uc003xit.2_Splice_Site_p.K268_splice|NRG1_uc010lvr.2_Splice_Site_p.K10_splice|NRG1_uc010lvs.2_Splice_Site_p.K10_splice|NRG1_uc010lvp.2_Splice_Site_p.K222_splice|NRG1_uc010lvq.2_Splice_Site_p.K198_splice|NRG1_uc011lbg.1_Splice_Site_p.K114_splice|NRG1_uc011lbh.1_Splice_Site_p.K111_splice|NRG1_uc003xja.2_Splice_Site_p.K79_splice NM_013964 NP_039258 Q02297 NRG1_HUMAN Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA. 268 Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TTATGTCCAGGAAACAGCGGA 0.418000 66 8 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124094432 124094432 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:124094432G>A uc001lgc.1 + 13 1452 c.1201G>A c.(1201-1203)Gga>Aga p.G401R BTBD16_uc001lgd.1_Missense_Mutation_p.G400R NM_144587 NP_653188 Q32M84 BTBDG_HUMAN Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA. 401 p.G401E(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) TGCTCTATATGGATTCTTCTT 0.353000 141 17 0 0 1 0 0 PPP4C 5531 broad.mit.edu 37 16 30095004 30095004 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:30095004C>T uc002dwe.3 + 6 641 c.506C>T c.(505-507)cCc>cTc p.P169L BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.3_Missense_Mutation_p.P169L NM_002720 NP_002711 P60510 PP4C_HUMAN Homo sapiens protein phosphatase 4, catalytic subunit (PPP4C), mRNA. 169 microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination centrosome|nucleus NF-kappaB-inducing kinase activity|metal ion binding|protein binding|protein serine/threonine phosphatase activity p.P169S(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1) 9 GGCCTCTCCCCCTCCATCCAG 0.617000 109 4 0 0 1 0 0 FAM75A2 642265 broad.mit.edu 37 9 39888258 39888258 + Silent SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:39888258T>G uc004abp.3 + 3 1274 c.1245T>G c.(1243-1245)ctT>ctG p.L415L NM_001040065 NP_001035154 Q5RGS2 F75A2_HUMAN Homo sapiens family with sequence similarity 75, member A2 (FAM75A2), mRNA. 415 integral to membrane lung(4)|skin(1)|upper_aerodigestive_tract(1) 6 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ATAGCCAGCTTTTCTGGGGCC 0.507000 116 22 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72771862 72771862 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:72771862G>A uc001sxa.3 + 2 1171 c.1141G>A c.(1141-1143)Gaa>Aaa p.E381K NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 381 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 AGAATTTTATGAAGACTACTT 0.343000 86 8 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2979457 2979458 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:2979457_2979458CC>TT uc003smv.3 - 5 1123_1124 c.789_790GG>AA c.(787-792)aaggag>aaAAag p.E264K NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 264 T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.R264W(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) AGAACCTGCTCCTTCTTGGGCC 0.510000 Mis DLBCL 183 14 0 0 1 0 0 CYB561D2 11068 broad.mit.edu 37 3 50391078 50391078 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:50391078C>T uc003dal.3 + 3 782 c.572C>T c.(571-573)gCc>gTc p.A191V NPRL2_uc003daj.1_5'Flank|CYB561D2_uc003dam.3_Missense_Mutation_p.A191V NM_007022 NP_008953 O14569 C56D2_HUMAN Homo sapiens cytochrome b-561 domain containing 2 (CYB561D2), mRNA. 191 Cytochrome b561. electron transport chain|transport integral to membrane metal ion binding endometrium(1)|lung(1)|urinary_tract(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) ACTGGTGCAGCCTGGTACCTG 0.552000 225 29 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20648148 20648148 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:20648148C>T uc002dhm.1 - 8 1280 c.1212G>A c.(1210-1212)aaG>aaA p.K404K ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.K404K NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 404 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 GGATGCTGCCCTTGTCATCAA 0.532000 67 4 0 0 1 0 0 SLC31A1 1317 broad.mit.edu 37 9 116021091 116021091 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:116021091C>T uc004bgu.3 + 3 506 c.320C>T c.(319-321)cCt>cTt p.P107L FKBP15_uc010muu.1_Intron|SLC31A1_uc004bgv.4_Missense_Mutation_p.P107L NM_001859 NP_001850 O15431 COPT1_HUMAN Homo sapiens solute carrier family 31 (copper transporters), member 1 (SLC31A1), mRNA. 107 integral to plasma membrane copper ion transmembrane transporter activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 AATTCCATGCCTGTCCCAGGA 0.453000 76 15 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784543 9784543 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:9784543C>T uc003gmb.4 + 0 1286 c.890C>T c.(889-891)aCc>aTc p.T297I NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 297 T -> P (in dbSNP:rs2227851). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GTTCTCAAGACCCTGTCGGTG 0.632000 79 6 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55179430 55179430 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:55179430C>T uc002qgp.3 + 11 1669 c.1307C>T c.(1306-1308)cCa>cTa p.P436L LILRB4_uc002qgq.3_Missense_Mutation_p.P435L|LILRB4_uc010ert.3_Missense_Mutation_p.P477L|LILRB4_uc010eru.3_Missense_Mutation_p.P466L NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 436 integral to membrane|plasma membrane antigen binding|receptor activity p.P436T(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GGGGCCTCTCCAGCTGAGCCC 0.607000 122 14 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54759173 54759173 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:54759173C>T uc010yer.1 - 4 1012 c.901G>A c.(901-903)Gac>Aac p.D301N LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.D310N|LILRB5_uc002qez.3_Missense_Mutation_p.D210N|LILRB5_uc002qex.3_Missense_Mutation_p.D310N|LILRB5_uc002qfa.1_Missense_Mutation_p.D200N|LILRB5_uc010yes.1_Non-coding_Transcript O75023 LIRB5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA. 310 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCCAGGGGGTCGCTGGGGGCC 0.667000 73 12 0 0 1 0 0 ITGB5 3693 broad.mit.edu 37 3 124567376 124567376 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:124567376G>A uc003eho.3 - 3 688 c.391C>T c.(391-393)Cgc>Tgc p.R131C NM_002213 NP_002204 P18084 ITB5_HUMAN Homo sapiens integrin, beta 5 (ITGB5), mRNA. 131 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) TCCACCTGGCGAACCTGTAGC 0.552000 68 10 0 0 1 0 0 OR7C2 26658 broad.mit.edu 37 19 15053062 15053062 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:15053062C>T uc010xoc.2 + 0 762 c.762C>T c.(760-762)ggC>ggT p.G254G NM_012377 NP_036509 O60412 OR7C2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA. 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) ATGGCACTGGCCTTGGGGTCT 0.537000 138 11 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103536 53103536 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:53103536C>T uc003tpz.3 + 0 188 c.172C>T c.(172-174)Ctg>Ttg p.L58L NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 58 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCTGAGGTCCCTGACTCAGAG 0.706000 59 11 0 0 1 0 0 OTOP2 92736 broad.mit.edu 37 17 72926996 72926996 + Silent SNP C T T rs142921758 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:72926996C>T uc010wrp.2 + 5 1358 c.1266C>T c.(1264-1266)atC>atT p.I422I NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN Homo sapiens otopetrin 2 (OTOP2), mRNA. 422 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) TGTTTATCATCGAGAGCCTTC 0.622000 87 8 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65918088 65918088 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:65918088C>T uc010ujf.2 + 1 1957 c.1670C>T c.(1669-1671)cCc>cTc p.P557L SLC24A1_uc010ujd.1_Missense_Mutation_p.P557L|SLC24A1_uc010uje.1_Missense_Mutation_p.P557L|SLC24A1_uc010ujg.2_Missense_Mutation_p.P557L|SLC24A1_uc010ujh.2_Missense_Mutation_p.P557L NM_004727 NP_004718 O60721 NCKX1_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA. 557 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 ACCTGGTGGCCCTTATTCCGT 0.522000 95 14 0 0 1 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895585 42895585 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:42895585G>A uc003gwt.3 + 0 303 c.302G>A c.(301-303)aGc>aAc p.S101N NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA. 101 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 AACATTTTAAGCAAAAATGGC 0.428000 86 4 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43833491 43833491 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:43833491C>T uc010skx.2 - 17 2527 c.2527G>A c.(2527-2529)Gag>Aag p.E843K ADAMTS20_uc001rno.1_5'UTR|ADAMTS20_uc001rnp.1_5'UTR NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 843 Spacer. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCACTCCTCTCTTCCAAAGGG 0.393000 55 6 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63908028 63908028 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:63908028G>A uc002amp.3 - 75 14181 c.14033C>T c.(14032-14034)tCc>tTc p.S4678F NM_003922 NP_003913 Q15751 HERC1_HUMAN Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA. 4678 HECT. protein modification process|transport Golgi apparatus|cytosol|membrane ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase 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 CTTCCTGTTGGAAAATGTGAG 0.438000 24 3 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50555448 50555448 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:50555448C>T uc001zxz.3 - 1 530 c.188G>A c.(187-189)cGa>cAa p.R63Q HDC_uc010uff.2_Missense_Mutation_p.R63Q|HDC_uc010bet.2_Missense_Mutation_p.R63Q|HDC_uc010beu.2_Missense_Mutation_p.R63Q NM_002112 NP_002103 P19113 DCHS_HUMAN Homo sapiens histidine decarboxylase (HDC), mRNA. 63 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CATGATGATTCGTTCAATGTC 0.597000 316 23 0 0 1 0 0 WT1 7490 broad.mit.edu 37 11 32414251 32414251 + Missense_Mutation SNP G A A rs121907910 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:32414251G>A uc001mtn.2 - 7 1490 c.1300C>T c.(1300-1302)Cgt>Tgt p.R434C WT1_uc001mtl.2_Missense_Mutation_p.R222C|WT1_uc001mtm.2_Missense_Mutation_p.R205C|WT1_uc001mto.2_Missense_Mutation_p.R434C|WT1_uc001mtq.2_Missense_Mutation_p.R417C|WT1_uc009yjs.2_Non-coding_Transcript NM_024426 NP_077744 P19544 WT1_HUMAN Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA. 366 RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.R433fs*19(4)|p.R433fs*18(3)|p.R366C(2)|p.R433fs*21(1)|p.R433C(1) EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) TGGTCTGAACGAGAAAACCTT 0.443000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 73 5 0 0 1 0 0 SMPD4 55627 broad.mit.edu 37 2 130911453 130911453 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:130911453G>A uc002tqq.2 - 16 2981 c.1832C>T c.(1831-1833)tCc>tTc p.S611F SMPD4_uc002tqo.2_Missense_Mutation_p.S143F|SMPD4_uc002tqp.2_Missense_Mutation_p.S350F|SMPD4_uc010yzy.2_Missense_Mutation_p.S360F|SMPD4_uc010yzz.2_Missense_Mutation_p.S275F|SMPD4_uc002tqs.2_Missense_Mutation_p.S479F|SMPD4_uc002tqr.2_Missense_Mutation_p.S582F|SMPD4_uc010zaa.2_Missense_Mutation_p.S469F|SMPD4_uc010zab.2_Missense_Mutation_p.S509F|SMPD4_uc002tqt.2_Missense_Mutation_p.S460F|SMPD4_uc010zac.2_Missense_Mutation_p.S352F|SMPD4_uc010zad.2_Missense_Mutation_p.S247F NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA. 572 sphingomyelin catabolic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) ACACTGGTCGGAGATGGACTT 0.632000 77 5 0 0 1 0 0 DYM 54808 broad.mit.edu 37 18 46956741 46956741 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:46956741G>A uc002ldi.1 - 1 389 c.24C>T c.(22-24)atC>atT p.I8I DYM_uc010xdf.1_Silent_p.I8I NM_017653 NP_060123 Q7RTS9 DYM_HUMAN Homo sapiens dymeclin (DYM), mRNA. 8 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 GAAGATCGCCGATTCTGCTGC 0.363000 80 5 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 51053024 51053024 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:51053024C>T uc002lfe.2 + 27 4765 c.4149C>T c.(4147-4149)tcC>tcT p.S1383S DCC_uc010dpf.2_Silent_p.S1016S NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 1383 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AAACAGCCTCCCTTGGGTTGG 0.473000 93 4 0 0 1 0 0 ALOXE3 59344 broad.mit.edu 37 17 8015439 8015439 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:8015439G>A uc002gka.3 - 5 1255 c.1224C>T c.(1222-1224)atC>atT p.I408I ALOXE3_uc010cnr.3_Silent_p.I252I|ALOXE3_uc010vuo.2_Silent_p.I384I|ALOXE3_uc010vup.2_Non-coding_Transcript NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA. 252 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 GGCACCAGAAGATGTTCTGCA 0.537000 161 7 0 0 1 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30690065 30690065 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:30690065G>A uc010gvu.3 - 6 846 c.761C>T c.(760-762)tCg>tTg p.S254L TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Non-coding_Transcript|TBC1D10A_uc003ahi.3_Missense_Mutation_p.S105L|TBC1D10A_uc010gvq.3_Non-coding_Transcript|TBC1D10A_uc003ahk.4_Missense_Mutation_p.S247L NM_001204240 NP_001191169 Q9BXI6 TB10A_HUMAN Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA. 247 Rab-GAP TBC. intracellular|microvillus PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity p.P254P(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CTGCAACAGCGAGAAAAGGAT 0.607000 134 14 0 0 1 0 0 ZNF445 353274 broad.mit.edu 37 3 44490126 44490126 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:44490126G>A uc003cnf.2 - 7 1385 c.1037C>T c.(1036-1038)tCt>tTt p.S346F ZNF445_uc011azv.1_Missense_Mutation_p.S334F|ZNF445_uc011azw.1_Missense_Mutation_p.S346F NM_181489 NP_852466 P59923 ZN445_HUMAN Homo sapiens zinc finger protein 445 (ZNF445), mRNA. 346 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) AATTCCCTCAGAAACACTTGT 0.408000 73 14 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633754 70633754 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:70633754C>T uc001xly.3 - 1 2140 c.1386G>A c.(1384-1386)aaG>aaA p.K462K SLC8A3_uc001xlw.3_Silent_p.K462K|SLC8A3_uc001xlx.3_Silent_p.K462K|SLC8A3_uc001xlz.3_Silent_p.K462K|SLC8A3_uc010ara.3_Non-coding_Transcript NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 462 Calx-beta 1. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CGGAGAACTCCTTCTGGGTCT 0.502000 183 19 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176760607 176760607 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:176760607G>A uc001gkz.3 + 18 6173 c.5009G>A c.(5008-5010)gGa>gAa p.G1670E PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1670 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGTGAACAAGGATATGGGATT 0.383000 77 6 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26793217 26793217 + Nonsense_Mutation SNP G C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:26793217G>C uc001zbb.3 - 9 1416 c.1313C>G c.(1312-1314)tCa>tGa p.S438* GABRB3_uc021sgg.1_Nonsense_Mutation_p.S311*|GABRB3_uc021sgh.1_Nonsense_Mutation_p.S297*|GABRB3_uc001zaz.3_Nonsense_Mutation_p.S382*|GABRB3_uc001zba.3_Nonsense_Mutation_p.S382* NM_001191320 NP_001178249 P28472 GBRB3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA. 382 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AATGCCGCCTGAGACCTCATT 0.468000 200 11 0 0 1 0 0 MAGEB10 139422 broad.mit.edu 37 X 27839871 27839871 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:27839871C>T uc022bud.1 + 0 448 c.448C>T c.(448-450)Cct>Tct p.P150S MAGEB10_uc004dbw.3_Missense_Mutation_p.P150S NM_182506 NP_872312 Q96LZ2 MAGBA_HUMAN Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA. 150 MAGE. NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 GAGCCAGTTCCCTGTAATCCT 0.438000 25 10 0 0 1 0 0 RNF6 6049 broad.mit.edu 37 13 26789091 26789091 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:26789091G>A uc001uqo.3 - 4 1273 c.928C>T c.(928-930)Cga>Tga p.R310* RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Nonsense_Mutation_p.R310*|RNF6_uc001uqq.3_Nonsense_Mutation_p.R310*|RNF6_uc010tdk.2_Intron NM_183044 NP_898865 Q9Y252 RNF6_HUMAN Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA. 310 Arg-rich. negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process PML body|axon|cytoplasm androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) GAACGGCTTCGACTATTGGAA 0.413000 184 22 0 0 1 0 0 BCL2L11 10018 broad.mit.edu 37 2 111881552 111881552 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:111881552C>T uc002tgv.1 + 1 518 c.230C>T c.(229-231)tCc>tTc p.S77F BCL2L11_uc002tgt.1_Intron|BCL2L11_uc021vmo.1_Intron|BCL2L11_uc002tgu.1_Intron|BCL2L11_uc002tgy.2_Intron|BCL2L11_uc002thb.2_Intron|BCL2L11_uc002tgx.2_Intron|BCL2L11_uc021vmp.1_Missense_Mutation_p.S77F|BCL2L11_uc010fkd.2_Intron|BCL2L11_uc002tgz.2_Intron|BCL2L11_uc002thd.2_Intron|BCL2L11_uc002tha.2_Missense_Mutation_p.S77F|BCL2L11_uc010fke.2_Intron|BCL2L11_uc021vmq.1_Missense_Mutation_p.S77F|BCL2L11_uc002thc.2_Intron|BCL2L11_uc021vmr.1_Missense_Mutation_p.S77F|BCL2L11_uc002tgw.2_Intron|BCL2L11_uc021vms.1_Missense_Mutation_p.S77F NM_138621 NP_619527 O43521 B2L11_HUMAN Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 1, mRNA. 77 activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane protein binding endometrium(4)|large_intestine(3)|lung(2)|prostate(2) 11 GCTACCAGATCCCCGCTTTTC 0.592000 105 8 0 0 1 0 0 PLVAP 83483 broad.mit.edu 37 19 17476201 17476201 + Missense_Mutation SNP C T T rs146532352 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:17476201C>T uc002ngk.1 - 2 1113 c.1073G>A c.(1072-1074)cGa>cAa p.R358Q NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA. 358 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CAGGTTGTCTCGTTCCTTCCG 0.622000 109 8 0 0 1 0 0 KIRREL2 84063 broad.mit.edu 37 19 36357116 36357116 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:36357116G>A uc002ocb.4 + 14 2061 c.1849G>A c.(1849-1851)Gaa>Aaa p.E617K KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Missense_Mutation_p.E579K|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA. 617 cell adhesion integral to membrane|plasma membrane p.E617G(1) breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GAGCCTTGGCGAAGCCCCTGG 0.607000 102 7 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56549468 56549468 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:56549468C>T uc002qmj.3 + 9 2693 c.2693C>T c.(2692-2694)tCt>tTt p.S898F NLRP5_uc002qmi.3_Missense_Mutation_p.S879F NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 898 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) AGCCTGAAATCTCTGAGCCTG 0.547000 75 9 0 0 1 0 0 KCNJ18 100134444 broad.mit.edu 37 17 21319775 21319775 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:21319775C>T uc021tss.1 + 2 1491 c.1121C>T c.(1120-1122)tCc>tTc p.S374F KCNJ18_uc002gyv.1_Missense_Mutation_p.S374F|KCNJ18_uc021tst.1_Missense_Mutation_p.S374F NM_001194958 NP_001181887 B7U540 IRK18_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA. 374 integral to membrane inward rectifier potassium channel activity AGCGCCAACTCCTTCTGCTAC 0.632000 85 6 0 0 1 0 0 KLRC4 8302 broad.mit.edu 37 12 10562080 10562080 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:10562080G>A uc001qye.3 - 0 277 c.95C>T c.(94-96)tCa>tTa p.S32L KLRK1_uc001qyc.3_5'Flank|KLRK1_uc009zhk.3_5'UTR|KLRK1_uc001qyd.3_Intron NM_013431 NP_038459 O43908 NKG2F_HUMAN Homo sapiens killer cell lectin-like receptor subfamily C, member 4 (KLRC4), mRNA. 32 cellular defense response integral to membrane binding|receptor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 5 TTTGGTTCCTGAAATGGAGAT 0.403000 161 16 0 0 1 0 0 NCOA5 57727 broad.mit.edu 37 20 44699028 44699028 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:44699028G>A uc002xrd.3 - 1 714 c.186C>T c.(184-186)gaC>gaT p.D62D NCOA5_uc002xrc.3_5'UTR|NCOA5_uc002xre.3_Silent_p.D62D NM_020967 NP_066018 Q9HCD5 NCOA5_HUMAN Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA. 62 Arg/Asp-rich (mixed charge).|Transcription repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus ATP binding|aminoacyl-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TATGTCTGTGGTCCCGCAAGT 0.567000 152 18 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8390417 8390417 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:8390417C>T uc001apb.3 + 3 864 c.864C>T c.(862-864)atC>atT p.I288I SLC45A1_uc001apc.3_5'UTR NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA. 288 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) TGGTCAGCATCCCTGAGAGGC 0.687000 65 20 0 0 1 0 0 KRT72 140807 broad.mit.edu 37 12 52994894 52994894 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:52994894C>T uc001sar.2 - 0 429 c.343G>A c.(343-345)Gac>Aac p.D115N KRT72_uc001saq.2_Missense_Mutation_p.D115N|KRT72_uc010sns.1_Missense_Mutation_p.D115N|KRT72_uc010snt.1_5'UTR NM_001146225 NP_542785 Q14CN4 K2C72_HUMAN Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA. 115 Head. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) ATCTCGGGGTCCATCTCCACG 0.652000 129 5 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100421381 100421381 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:100421381G>A uc003uwn.1 - 2 787 c.296C>T c.(295-297)tCc>tTc p.S99F EPHB4_uc003uwm.1_Missense_Mutation_p.S6F|EPHB4_uc010lhj.1_Missense_Mutation_p.S99F|EPHB4_uc011kkf.1_Missense_Mutation_p.S99F|EPHB4_uc011kkg.1_Missense_Mutation_p.S99F|EPHB4_uc011kkh.1_Missense_Mutation_p.S99F NM_004444 NP_004435 P54760 EPHB4_HUMAN Homo sapiens EPH receptor B4 (EPHB4), mRNA. 99 cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) CCGAGGCAGGGACAGGCACTC 0.692000 120 23 0 0 1 0 0 CUL7 9820 broad.mit.edu 37 6 43008415 43008415 + Silent SNP G A A rs147056081 by1000genomes TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:43008415G>A uc003otq.3 - 20 4208 c.3876C>T c.(3874-3876)atC>atT p.I1292I CUL7_uc010jyg.3_Silent_p.I571I|CUL7_uc011dvb.2_Silent_p.I1376I|KLC4_uc003otr.1_5'Flank NM_014780 NP_055595 Q14999 CUL7_HUMAN Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA. 1292 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) AGCAGGGACCGATCTGCTCCA 0.662000 88 12 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80049263 80049263 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:80049263G>A uc002kdu.3 - 8 1444 c.1327C>T c.(1327-1329)Cgg>Tgg p.R443W FASN_uc002kdw.1_5'Flank NM_004104 NP_004095 P49327 FAS_HUMAN Homo sapiens fatty acid synthase (FASN), mRNA. 443 Acyl and malonyl transferases (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process Golgi apparatus|cytosol|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) TGGCTGTGCCGGAGGCCCTGC 0.716000 15 9 0 0 1 0 0 LRIT2 340745 broad.mit.edu 37 10 85984833 85984833 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:85984833G>A uc010qmc.2 - 1 156 c.148C>T c.(148-150)Cct>Tct p.P50S LRIT2_uc001kcy.3_Missense_Mutation_p.P50S NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA. 50 LRRNT. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 AGGTTCCCAGGGATCTTTCCC 0.448000 101 9 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196729610 196729610 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:196729610C>T uc002utj.4 - 40 6870 c.6769G>A c.(6769-6771)Gat>Aat p.D2257N NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2257 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ACCATGCCATCATTATCAAAA 0.393000 77 5 0 0 1 0 0 OR2T8 343172 broad.mit.edu 37 1 248084538 248084538 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:248084538C>T uc010pzc.2 + 0 219 c.219C>T c.(217-219)tcC>tcT p.S73S NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA. 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGCTGGTTTCCACCACTGTGC 0.572000 103 6 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111470552 111470552 + Missense_Mutation SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:111470552T>G uc003iab.4 + 14 2544 c.2202T>G c.(2200-2202)aaT>aaG p.N734K NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 734 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TGGGATGGAATGATGCTGGAG 0.308000 56 4 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77636804 77636804 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:77636804A>G uc021rks.1 - 73 12968 c.12701T>C c.(12700-12702)gTt>gCt p.V4234A MYCBP2_uc010aev.3_Missense_Mutation_p.V3600A|MYCBP2_uc001vke.3_Missense_Mutation_p.V813A NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 4196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTGATCAAGAACACATAGGGA 0.428000 90 6 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10391803 10391803 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:10391803C>T uc003bvt.3 - 15 2836 c.2397G>A c.(2395-2397)ctG>ctA p.L799L ATP2B2_uc003bvv.3_Silent_p.L754L|ATP2B2_uc003bvw.3_Silent_p.L754L|ATP2B2_uc010hdo.3_Silent_p.L504L NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA. 799 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 TACCTTTAACCAGGGTATGCT 0.597000 67 8 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672580 141672580 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141672580A>G uc003vwx.1 - 0 994 c.910T>C c.(910-912)Ttg>Ctg p.L304L NM_176817 NP_789787 P59533 T2R38_HUMAN Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA. 304 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) GCTCTCCTCAACTTGGCATTG 0.542000 62 6 0 0 1 0 0 LRRC32 2615 broad.mit.edu 37 11 76372307 76372307 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:76372307C>T uc001oxq.4 - 2 573 c.330G>A c.(328-330)gcG>gcA p.A110A LRRC32_uc001oxr.4_Silent_p.A110A|LRRC32_uc010rsf.2_Silent_p.A110A NM_005512 NP_005503 Q14392 LRC32_HUMAN Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA. 110 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 CAGTGGCCATCGCCAGCCGGT 0.672000 49 3 0 0 1 0 0 CELA3B 23436 broad.mit.edu 37 1 22303559 22303560 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:22303559_22303560CC>TT uc001bfk.3 + 0 142_143 c.27_28CC>TT c.(25-30)ctcctc>ctTTtc p.L10F CELA3B_uc009vqf.3_Missense_Mutation_p.L9F NM_007352 NP_031378 P08861 CEL3B_HUMAN Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA. 10 cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 TCAGTTCCCTCCTCCTTGTGGC 0.525000 393 41 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18554486 18554486 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:18554486G>A uc001bau.2 + 1 548 c.165G>A c.(163-165)cgG>cgA p.R55R NM_032880 NP_116269 Q96ID5 IGS21_HUMAN Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA. 55 Ig-like 1. extracellular region p.R55W(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) GGCGCATGCGGGAGATCGTGT 0.582000 77 10 0 0 1 0 0 MPPED2 744 broad.mit.edu 37 11 30601897 30601897 + Missense_Mutation SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:30601897T>G uc001msr.3 - 0 145 c.24A>C c.(22-24)caA>caC p.Q8H MPPED2_uc001msq.3_Missense_Mutation_p.Q8H|MPPED2_uc009yji.3_5'UTR NM_001584 NP_001575 Q15777 MPPD2_HUMAN Homo sapiens metallophosphoesterase domain containing 2 (MPPED2), transcript variant 1, mRNA. 8 nervous system development hydrolase activity|metal ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 TAACTTTGCCTTGAGAAGGAA 0.493000 100 11 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48162624 48162624 + Missense_Mutation SNP G C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:48162624G>C uc002efc.1 - 8 1607 c.1261C>G c.(1261-1263)Cca>Gca p.P421A ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.P421A NM_033226 NP_150229 Q96J65 MRP9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA. 421 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) ATGTAAGATGGGGGGCTTTTA 0.403000 106 7 0 0 1 0 0 ACER1 125981 broad.mit.edu 37 19 6307229 6307229 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:6307229C>T uc002mel.2 - 4 639 c.561G>A c.(559-561)tgG>tgA p.W187* NM_133492 NP_597999 Q8TDN7 ACER1_HUMAN Homo sapiens alkaline ceramidase 1 (ACER1), mRNA. 187 endoplasmic reticulum membrane|integral to membrane ceramidase activity NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1) 15 GGTCACTGATCCAGCTGGTCA 0.562000 93 8 0 0 1 0 0 TXNDC11 51061 broad.mit.edu 37 16 11782265 11782265 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:11782265G>A uc010buu.1 - 9 2080 c.2018C>T c.(2017-2019)cCc>cTc p.P673L TXNDC11_uc002dbg.1_Missense_Mutation_p.P646L NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA. 673 Thioredoxin 2. cell redox homeostasis endoplasmic reticulum membrane|integral to membrane endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 CCTTTTCAAGGGACTATAGAG 0.398000 63 5 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150171108 150171108 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:150171108G>A uc003whj.3 + 3 1021 c.691G>A c.(691-693)Gaa>Aaa p.E231K NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 231 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AGGCCCAAGGGAAAGGCAGCT 0.527000 90 5 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215866417 215866417 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:215866417G>A uc002vew.3 - 20 2948 c.2728C>T c.(2728-2730)Cag>Tag p.Q910* ABCA12_uc002vev.3_Nonsense_Mutation_p.Q592*|ABCA12_uc010zjn.2_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 910 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GTGTTAAGCTGATCGATGATG 0.363000 50 3 0 0 1 0 0 TNFRSF19 55504 broad.mit.edu 37 13 24167504 24167504 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:24167504A>T uc001uov.2 + 2 294 c.90A>T c.(88-90)gaA>gaT p.E30D TNFRSF19_uc001uot.3_Missense_Mutation_p.E30D|TNFRSF19_uc010tcu.2_Intron|TNFRSF19_uc001uow.3_Missense_Mutation_p.E30D|TNFRSF19_uc001uou.3_Missense_Mutation_p.E30D NM_018647 NP_061117 Q9NS68 TNR19_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 19 (TNFRSF19), transcript variant 1, mRNA. 30 JNK cascade|apoptosis|induction of apoptosis integral to membrane|mitochondrion tumor necrosis factor receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 22 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) TGACTTGTGAATCAGGAGACT 0.358000 94 8 0 0 1 0 0 OR5H6 79295 broad.mit.edu 37 3 97983223 97983223 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:97983223G>A uc003dsi.1 + 0 95 c.95G>A c.(94-96)gGa>gAa p.G32E NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA. 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GTTCTCACAGGATTTTTACAT 0.398000 170 16 0 0 1 0 0 SCNN1G 6340 broad.mit.edu 37 16 23208632 23208632 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:23208632C>T uc002dlm.1 + 5 1100 c.961C>T c.(961-963)Ctc>Ttc p.L321F NM_001039 NP_001030 P51170 SCNNG_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA. 321 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane WW domain binding|ligand-gated sodium channel activity NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) CAACCCATTCCTCGTGTCCTC 0.488000 68 4 0 0 1 0 0 OR2B11 127623 broad.mit.edu 37 1 247614640 247614640 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:247614640C>T uc010pyx.2 - 0 645 c.645G>A c.(643-645)ctG>ctA p.L215L NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA. 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P214P(1) endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GGATGAGAGCCAGGGGCACCA 0.587000 45 5 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3658452 3658452 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:3658452G>A uc002cvp.2 - 1 1141 c.514C>T c.(514-516)Ctt>Ttt p.L172F SLX4_uc002cvq.1_Missense_Mutation_p.L172F NM_032444 NP_115820 Q8IY92 SLX4_HUMAN Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. 172 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 TCTCTGGAAAGGTTTGGCGAT 0.507000 Direct reversal of damage 146 11 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179391873 179391873 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:179391873C>T uc021vsy.1 - 311 100363 c.100138G>A c.(100138-100140)Gaa>Aaa p.E33380K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E27075K|TTN_uc021vta.1_Missense_Mutation_p.E27008K|TTN_uc021vtb.1_Missense_Mutation_p.E26883K|TTN_uc002umq.3_Missense_Mutation_p.E296K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 34307 Ig-like 146. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTGTGTTTTCAATGTGGAAC 0.463000 35 3 0 0 1 0 0 KCNE1 3753 broad.mit.edu 37 21 35821850 35821850 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:35821850G>A uc021wit.1 - 0 83 c.83C>T c.(82-84)tCg>tTg p.S28L KCNE1_uc010gmp.3_Missense_Mutation_p.S28L|KCNE1_uc002ytz.3_Missense_Mutation_p.S28L|KCNE1_uc010gmq.3_Missense_Mutation_p.S28L|KCNE1_uc010gmr.3_Missense_Mutation_p.S28L|KCNE1_uc010gms.3_Missense_Mutation_p.S28L|KCNE1_uc002yua.3_Non-coding_Transcript NM_001127670 NP_001121142 P15382 KCNE1_HUMAN Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA. 28 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound lysosome delayed rectifier potassium channel activity|potassium channel regulator activity large_intestine(4)|lung(1)|ovary(2) 7 Indapamide(DB00808) GGCCAGGCCCGACATGTTGCC 0.607000 74 6 0 0 1 0 0 LGR6 59352 broad.mit.edu 37 1 202284011 202284011 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:202284011G>A uc001gxu.3 + 17 1648 c.1648_splice c.e17+1 p.G550_splice LGR6_uc001gxv.3_Splice_Site_p.G498_splice|LGR6_uc009xab.3_Splice_Site|LGR6_uc001gxw.3_Splice_Site_p.G411_splice NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA. 550 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 CCTACTCCAGGTGAGGTGGTG 0.557000 51 3 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45929162 45929162 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:45929162G>A uc002zfe.1 - 9 1740 c.1674C>T c.(1672-1674)tcC>tcT p.S558S TSPEAR_uc010gpv.1_Silent_p.S490S NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA. 558 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 TGATGACATAGGAATCATTCT 0.547000 63 8 0 0 1 0 0 DUOX1 53905 broad.mit.edu 37 15 45433149 45433149 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:45433149C>T uc001zus.1 + 13 1792 c.1446C>T c.(1444-1446)ctC>ctT p.L482L DUOX1_uc001zut.1_Silent_p.L482L|DUOX1_uc010bee.1_5'UTR NM_017434 NP_787954 Q9NRD9 DUOX1_HUMAN Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA. 482 Peroxidase-like; mediates peroxidase activity. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) TAGAGCTGCTCCCTGGGGGAC 0.587000 107 8 0 0 1 0 0 ZNF746 155061 broad.mit.edu 37 7 149172508 149172508 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:149172508G>A uc010lpi.2 - 6 1176 c.905C>T c.(904-906)cCt>cTt p.P302L ZNF746_uc003wfw.2_Missense_Mutation_p.P301L NM_001163474 NP_001156946 Q6NUN9 ZN746_HUMAN Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA. 301 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TAGGTCAGTAGGATGTACGGG 0.532000 88 5 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935403 30935403 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:30935403G>A uc002nsu.1 + 1 1072 c.934G>A c.(934-936)Gag>Aag p.E312K ZNF536_uc010edd.1_Missense_Mutation_p.E312K NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.E312A(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGCTTCGCAGGAGGAGGAGCT 0.642000 214 10 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435655 158435655 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:158435655T>C uc010pij.2 + 0 304 c.304T>C c.(304-306)Ttt>Ctt p.F102L NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA. 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) CATCCAAATGTTTTCCTTCCT 0.498000 135 9 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34038273 34038273 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:34038273G>A uc001bxm.1 - 49 7772 c.7595C>T c.(7594-7596)cCt>cTt p.P2532L CSMD2_uc001bxn.1_Missense_Mutation_p.P2534L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2534 Sushi 15. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGGGGCCTCAGGAAGCCCACA 0.488000 75 5 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57176164 57176164 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:57176164C>T uc010ygn.2 - 1 630 c.403G>A c.(403-405)Gag>Aag p.E135K NM_001005850 NP_001005850 Homo sapiens zinc finger protein 835 (ZNF835), mRNA. endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 AATGGCTTCTCCCCGGTGTGG 0.632000 112 19 0 0 1 0 0 WDR5B 54554 broad.mit.edu 37 3 122134328 122134328 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:122134328G>A uc003efa.1 - 0 555 c.48C>T c.(46-48)tcC>tcT p.S16S NM_019069 NP_061942 Q86VZ2 WDR5B_HUMAN Homo sapiens WD repeat domain 5B (WDR5B), mRNA. 16 kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.0704) TGGCCGATGAGGAGAGGGCCA 0.507000 140 12 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54786858 54786858 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:54786858C>T uc021smr.1 + 17 4980 c.4980C>T c.(4978-4980)ttC>ttT p.F1660F UNC13C_uc021sms.1_Silent_p.F1662F NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1662 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATTTGCATTTCAAAGTTAAAT 0.328000 70 5 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382562 22382562 + Silent SNP G A A rs139049224 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:22382562G>A uc001yuc.1 + 6 1071 c.90G>A c.(88-90)ctG>ctA p.L30L abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.L30L NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L30L(2) breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTTTGTGCTGATCTTAATTT 0.413000 130 19 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16884082 16884082 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:16884082C>T uc002neu.4 + 10 2978 c.2556C>T c.(2554-2556)ttC>ttT p.F852F NWD1_uc002net.4_Silent_p.F717F|NWD1_uc002nev.4_Silent_p.F646F|NWD1_uc021uqg.1_Silent_p.F717F NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 852 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TCGGAGGATTCCTCCAGCCCC 0.627000 56 8 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94731788 94731788 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:94731788C>T uc001ycs.1 + 20 2416 c.2262C>T c.(2260-2262)ccC>ccT p.P754P NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA. 754 cytoplasm|protein serine/threonine phosphatase complex protein binding p.P754P(4) NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 TTCCTGGACCCTCTTCTGTCA 0.358000 79 9 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117114301 117114301 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:117114301G>A uc003pxj.1 - 5 1807 c.1785C>T c.(1783-1785)atC>atT p.I595I GPRC6A_uc003pxk.1_Silent_p.I420I|GPRC6A_uc003pxl.1_Silent_p.I524I NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 595 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TCAGGAGTAGGATGGCCAAGG 0.438000 74 6 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23236960 23236961 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:23236960_23236961GG>AA uc009vqj.1 + 13 2733_2734 c.2588_2589GG>AA c.(2587-2589)tgg>tAA p.W863* EPHB2_uc001bge.3_Nonsense_Mutation_p.W864*|EPHB2_uc001bgf.3_Nonsense_Mutation_p.W863*|EPHB2_uc010odu.2_Nonsense_Mutation_p.W805* NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 863 Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CTGGACTGTTGGCAGAAGGACC 0.584000 153 14 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34867060 34867060 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:34867060C>T uc003teh.1 + 4 654 c.526C>T c.(526-528)Ctg>Ttg p.L176L NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.L176L|NPSR1_uc010kwt.1_Silent_p.L23L|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Silent_p.L110L|NPSR1_uc003tei.1_Silent_p.L176L|NPSR1_uc010kww.1_Silent_p.L165L|NPSR1_uc011kar.1_Silent_p.L110L|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron NM_207173 NP_997056 Q6W5P4 NPSR1_HUMAN Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA. 176 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) CCTGTCTTTTCTGTTCTCCAT 0.532000 50 6 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49371708 49371708 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:49371708C>T uc001jgi.3 - 27 3875 c.3544G>A c.(3544-3546)Gaa>Aaa p.E1182K FRMPD2_uc001jgh.3_Missense_Mutation_p.E1150K|FRMPD2_uc001jgj.3_Missense_Mutation_p.E1151K|FRMPD2_uc001jgf.3_Missense_Mutation_p.E193K|FRMPD2_uc001jgg.3_Missense_Mutation_p.E134K|FRMPD2_uc001jgk.3_Missense_Mutation_p.E134K NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 1182 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GCTGAGAGTTCAGGTGTCTAT 0.448000 126 9 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 42080489 42080489 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:42080489G>A uc002yyq.1 - 1 704 c.252C>T c.(250-252)ttC>ttT p.F84F DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 84 Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GAGGGAAGGGGAAAATTTGGA 0.498000 87 8 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159283606 159283606 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:159283606G>A uc010piu.2 - 0 844 c.844C>T c.(844-846)Cac>Tac p.H282Y NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA. 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H282Y(2)|p.H281R(1) breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) GTAGGGGAGTGATGAGTGTAG 0.507000 77 5 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140222207 140222207 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140222207C>T uc003lhs.2 + 0 1301 c.1301C>T c.(1300-1302)tCg>tTg p.S434L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.S434L NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 448 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTCGCCTTCGCTGTGGGCC 0.627000 202 17 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27169587 27169587 + Silent SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:27169587A>T uc011lno.2 + 3 1030 c.588A>T c.(586-588)ggA>ggT p.G196G TEK_uc010mjc.1_Silent_p.G49G|TEK_uc011lnn.1_Silent_p.G196G|TEK_uc003zqi.4_Silent_p.G196G|TEK_uc011lnp.2_Silent_p.G92G|TEK_uc003zqj.1_Silent_p.G173G NM_000459 NP_000450 Q02763 TIE2_HUMAN Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA. 196 angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) ATATAGGAGGAAACCTCTTCA 0.498000 76 12 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89259218 89259218 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:89259218A>G uc003dqy.3 + 2 587 c.362A>G c.(361-363)aAc>aGc p.N121S EPHA3_uc003dqx.1_Missense_Mutation_p.N121S|EPHA3_uc021xbf.1_Missense_Mutation_p.N121S NM_005233 NP_005224 P29320 EPHA3_HUMAN Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA. 121 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GAGACATTCAACCTGTACTAC 0.423000 TSP Lung(6;0.00050) 154 13 0 0 1 0 0 C2CD2 25966 broad.mit.edu 37 21 43342097 43342097 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:43342097G>A uc002yzw.3 - 2 718 c.476C>T c.(475-477)tCc>tTc p.S159F C2CD2_uc002yzu.3_5'Flank|C2CD2_uc002yzv.3_Missense_Mutation_p.S4F|C2CD2_uc002yzx.1_Missense_Mutation_p.S4F NM_015500 NP_950251 Q9Y426 CU025_HUMAN Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA. 159 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 ATGGAAAGGGGAGAGCCGCAT 0.537000 55 9 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113673885 113673885 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:113673885G>A uc001poh.3 - 22 2890 c.2857C>T c.(2857-2859)Ctt>Ttt p.L953F USP28_uc001pog.3_Missense_Mutation_p.L629F|USP28_uc010rwy.2_Missense_Mutation_p.L796F|USP28_uc001poi.3_Missense_Mutation_p.L276F NM_020886 NP_065937 Q96RU2 UBP28_HUMAN Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA. 953 DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) CAAACCAGAAGGCATTTTCTT 0.458000 119 11 0 0 1 0 0 FPR2 2358 broad.mit.edu 37 19 52272349 52272349 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:52272349C>T uc002pxr.3 + 1 483 c.438C>T c.(436-438)atC>atT p.I146I FPR2_uc002pxs.4_Silent_p.I146I|FPR2_uc010epf.3_Silent_p.I146I|FPR2_uc021uyp.1_Silent_p.I146I NM_001005738 NP_001453 P25090 FPR2_HUMAN Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA. 146 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 TGAAGGTGATCGTCGGACCTT 0.478000 77 10 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131870220 131870220 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:131870220C>T uc003vra.4 - 15 3225 c.2996G>A c.(2995-2997)cGa>cAa p.R999Q NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 999 IPT/TIG 2. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GGATGGAGATCGCCTGGAGGG 0.592000 76 15 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90136455 90136455 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:90136455G>A uc003kju.3 + 77 16768 c.16672G>A c.(16672-16674)Gat>Aat p.D5558N GPR98_uc003kjt.3_Missense_Mutation_p.D3264N|GPR98_uc003kjw.3_Missense_Mutation_p.D1219N NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 5558 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTCTGGAAAGGATTTTGTGAT 0.398000 67 12 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62043468 62043468 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:62043468G>A uc002jds.1 - 7 1313 c.1236C>T c.(1234-1236)ttC>ttT p.F412F NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 412 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GTACCAGCTGGAAGAGGTTCT 0.612000 10 4 0 0 1 0 0 RAC2 5880 broad.mit.edu 37 22 37637630 37637630 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:37637630G>A uc003arc.3 - 1 221 c.104C>T c.(103-105)aCc>aTc p.T35I NM_002872 NP_002863 P15153 RAC2_HUMAN Homo sapiens ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) (RAC2), mRNA. 35 axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|protein binding p.T35T(1) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 12 AACTCACACGGTGGGGATGTA 0.617000 218 21 0 0 1 0 0 WDR64 128025 broad.mit.edu 37 1 241964495 241964495 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:241964495T>C uc001hzg.2 + 26 3431 c.3224T>C c.(3223-3225)tTc>tCc p.F1075S WDR64_uc021pli.1_Missense_Mutation_p.F628S NM_144625 NP_653226 B1ANS9 WDR64_HUMAN Homo sapiens WD repeat domain 64 (WDR64), mRNA. 1075 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) GCTTCTTCCTTCTTCCCAGCT 0.388000 67 8 0 0 1 0 0 SEPT2 4735 broad.mit.edu 37 2 242285599 242285599 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:242285599C>T uc002wbh.3 + 13 1353 c.891C>T c.(889-891)ctC>ctT p.L297L SEPT2_uc002wbc.3_Silent_p.L287L|SEPT2_uc002wbd.3_Silent_p.L287L|SEPT2_uc002wbf.3_Silent_p.L287L|SEPT2_uc002wbg.3_Silent_p.L287L|SEPT2_uc010zop.2_Silent_p.L322L NM_006155 NP_006146 Q15019 SEPT2_HUMAN Homo sapiens septin 2 (SEPT2), transcript variant 2, mRNA. 287 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) TGCAGGATCTCCAGGAGGTGA 0.478000 71 8 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28233271 28233271 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:28233271C>T uc009xky.3 - 11 1721 c.1623G>A c.(1621-1623)gtG>gtA p.V541V ARMC4_uc010qds.2_Silent_p.V66V|ARMC4_uc010qdt.2_Silent_p.V233V|ARMC4_uc001itz.3_Silent_p.V541V|ARMC4_uc010qdu.1_Silent_p.V233V NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 541 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CAAGTATATTCACCATAATTG 0.418000 54 11 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102054994 102054994 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:102054994C>T uc001tii.3 + 17 2051 c.1911C>T c.(1909-1911)atC>atT p.I637I MYBPC1_uc001tig.3_Silent_p.I662I|MYBPC1_uc010svr.2_Silent_p.I637I|MYBPC1_uc010svs.2_Silent_p.I637I|MYBPC1_uc001tij.3_Silent_p.I637I|MYBPC1_uc010svt.2_Silent_p.I625I|MYBPC1_uc010svu.2_Silent_p.I618I|MYBPC1_uc001tik.3_Silent_p.I611I|MYBPC1_uc001tih.3_Silent_p.I662I|MYBPC1_uc010svq.2_Silent_p.I624I NM_206820 NP_996556 Q00872 MYPC1_HUMAN Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA. 637 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 ACTGGTGTATCATGAACTGGG 0.483000 46 9 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 55922538 55922538 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:55922538C>T uc021wzo.1 - 12 2583 c.2443G>A c.(2443-2445)Gaa>Aaa p.E815K ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Missense_Mutation_p.E811K|ERC2_uc003dht.1_Missense_Mutation_p.E294K NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 815 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding p.Q814H(1) breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GCATCCAGTTCCTGTCTGGTC 0.512000 128 12 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49371642 49371642 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:49371642C>T uc001jgi.3 - 27 3941 c.3610G>A c.(3610-3612)Gat>Aat p.D1204N FRMPD2_uc001jgh.3_Missense_Mutation_p.D1172N|FRMPD2_uc001jgj.3_Missense_Mutation_p.D1173N|FRMPD2_uc001jgf.3_Missense_Mutation_p.D215N|FRMPD2_uc001jgg.3_Missense_Mutation_p.D156N|FRMPD2_uc001jgk.3_Missense_Mutation_p.D156N NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 1204 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TCCTCTTGATCCAGGATGGGG 0.517000 76 6 0 0 1 0 0 HLA-DQA2 3118 broad.mit.edu 37 6 32714114 32714114 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:32714114C>T uc003obx.3 + 3 769 c.711C>T c.(709-711)gtC>gtT p.V237V NM_020056 NP_064440 P01906 DQA2_HUMAN Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA. 237 T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane MHC class II receptor activity endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGGGCACTGTCTTCATCATCC 0.532000 103 7 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34888154 34888154 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:34888154C>T uc003teh.1 + 7 1032 c.904C>T c.(904-906)Ctt>Ttt p.L302F NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.L302F|NPSR1_uc010kwt.1_Missense_Mutation_p.L149F|NPSR1_uc010kwu.1_Missense_Mutation_p.L92F|NPSR1_uc010kwv.1_Missense_Mutation_p.L236F|NPSR1_uc003tei.1_Missense_Mutation_p.L302F|NPSR1_uc010kww.1_Missense_Mutation_p.L291F|NPSR1_uc011kar.1_Missense_Mutation_p.L236F NM_207173 NP_997056 Q6W5P4 NPSR1_HUMAN Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA. 302 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) TTTCAACCTCCTTCCAGACAC 0.493000 243 37 0 0 1 0 0 WEE2 494551 broad.mit.edu 37 7 141414102 141414102 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141414102G>A uc003vwn.2 + 1 842 c.436G>A c.(436-438)Gag>Aag p.E146K FLJ40852_uc011krh.1_Non-coding_Transcript|FLJ40852_uc010lnm.2_Non-coding_Transcript|FLJ40852_uc010lnn.2_Non-coding_Transcript|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA. 146 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) CCTCAAGGATGAGATGACCTC 0.458000 59 6 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55182888 55182888 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:55182888C>T uc010wnl.2 + 2 345 c.63C>T c.(61-63)ggC>ggT p.G21G AKAP1_uc002iux.3_Silent_p.G21G|AKAP1_uc021uak.1_Silent_p.G21G|AKAP1_uc010dcm.3_Silent_p.G21G|AKAP1_uc002iuy.3_Non-coding_Transcript NM_001242902 NP_001229831 Q92667 AKAP1_HUMAN Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA. 21 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane RNA binding|protein binding p.L20L(1) endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) CGCTCCTCGGCTGGTGGTGGT 0.577000 48 4 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5567912 5567913 + Splice_Site DNP CC TT TT rs11546908 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:5567912_5567913CC>TT uc003sot.4 - 4 886 c.802_splice c.e4+1 p.G268_splice ACTB_uc003sor.4_Splice_Site_p.G146_splice|ACTB_uc003soq.4_Splice_Site_p.G146_splice NM_001101 NP_001092 P60709 ACTB_HUMAN Homo sapiens actin, beta (ACTB), mRNA. 268 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) CTCCACTCACCCAGGAAGGAAG 0.609000 109 13 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131640552 131640552 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:131640552G>A uc021qav.1 - 12 1232 c.1131C>T c.(1129-1131)atC>atT p.I377I EBF3_uc001lki.2_Silent_p.I391I NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN Homo sapiens early B-cell factor 3 (EBF3), mRNA. 400 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GCTTCAAGATGATCTCCTGCA 0.672000 101 9 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86042224 86042224 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:86042224C>T uc003ycw.3 + 10 1905 c.1697C>T c.(1696-1698)tCc>tTc p.S566F LRRCC1_uc010lzz.2_Non-coding_Transcript|LRRCC1_uc022awx.1_Missense_Mutation_p.S473F|LRRCC1_uc010maa.2_Missense_Mutation_p.S267F|LRRCC1_uc003ycy.3_Missense_Mutation_p.S546F NM_033402 NP_208325 Q9C099 LRCC1_HUMAN Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA. 566 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 CTTAGAACTTCCCTTCATCGA 0.368000 88 12 0 0 1 0 0 CHMP4C 92421 broad.mit.edu 37 8 82665378 82665378 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:82665378G>A uc003ycl.3 + 1 444 c.270G>A c.(268-270)gaG>gaA p.E90E NM_152284 NP_689497 Q96CF2 CHM4C_HUMAN Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA. 90 Intramolecular interaction with C- terminus (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 10 CTACCATTGAGTTCCAGAGAG 0.443000 56 3 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94034521 94034521 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:94034521G>A uc003ung.1 + 9 914 c.443G>A c.(442-444)gGa>gAa p.G148E COL1A2_uc011kib.1_Intron|COL1A2_uc022ahm.1_Non-coding_Transcript|COL1A2_uc010lfh.1_5'Flank NM_000089 NP_000080 P08123 CO1A2_HUMAN Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. 148 Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGTCACCCTGGAAAACCCGGA 0.423000 HNSCC(75;0.22) 38 10 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13788855 13788856 + Missense_Mutation DNP CC AT AT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:13788855_13788856CC>AT uc003jfd.2 - 50 8658_8659 c.8616_8617GG>AT c.(8614-8619)gtggat>gtATat p.D2873Y NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2873 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTCAAGAAATCCACAAAATATG 0.401000 Kartagener syndrome 103 13 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76900501 76900501 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:76900501G>A uc001oyb.2 + 27 3888 c.3616G>A c.(3616-3618)Gag>Aag p.E1206K MYO7A_uc010rsm.1_Missense_Mutation_p.E1195K|MYO7A_uc001oyc.2_Missense_Mutation_p.E1206K|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.E417K NM_000260 NP_000251 Q13402 MYO7A_HUMAN Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA. 1206 MyTH4 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse ATP binding|actin binding|calmodulin binding|microfilament motor activity p.E1206K(2)|p.S1205S(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CGCCCCCTCCGAGAAGTTTGT 0.622000 126 15 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103281630 103281630 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:103281630C>T uc002tca.3 + 2 967 c.825C>T c.(823-825)atC>atT p.I275I NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA. 275 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TTGCAGGAATCGCCAACTTCT 0.433000 175 6 0 0 1 0 0 GNB4 59345 broad.mit.edu 37 3 179137190 179137190 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:179137190G>A uc003fjv.4 - 3 480 c.200C>T c.(199-201)tCc>tTc p.S67F GNB4_uc003fju.4_5'Flank NM_021629 NP_067642 Q9HAV0 GBB4_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 4 (GNB4), mRNA. 67 cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 16 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) TACAAACCTGGAATCGTATCC 0.363000 104 15 0 0 1 0 0 P2RY10 27334 broad.mit.edu 37 X 78216491 78216491 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:78216491C>T uc022bzl.1 + 0 474 c.474C>T c.(472-474)atC>atT p.I158I P2RY10_uc004ede.3_Silent_p.I158I|P2RY10_uc004edf.3_Silent_p.I158I NM_198333 NP_938147 O00398 P2Y10_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA. 158 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.I158I(2) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 CCATCTGGATCGTTGTGGGGA 0.493000 25 5 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530936 80530936 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:80530936G>A uc021vjt.1 - 0 9 c.9C>T c.(7-9)ttC>ttT p.F3F CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Silent_p.F3F NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA. 3 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 CGAGCAGCAGGAAATCCATTA 0.557000 HNSCC(69;0.2) 112 7 0 0 1 0 0 EXO1 9156 broad.mit.edu 37 1 242042276 242042276 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:242042276T>C uc021plj.1 + 10 2054 c.1740T>C c.(1738-1740)ttT>ttC p.F580F EXO1_uc001hzh.3_Silent_p.F580F|EXO1_uc009xgq.3_Silent_p.F579F|EXO1_uc021plk.1_Silent_p.F580F NM_006027 NP_569082 Q9UQ84 EXO1_HUMAN Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA. 580 meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) CAACAGTGTTTACAGATGAAG 0.413000 Editing and processing nucleases 103 7 0 0 1 0 0 STAP1 26228 broad.mit.edu 37 4 68459033 68459033 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:68459033G>A uc003hde.4 + 7 867 c.785G>A c.(784-786)gGa>gAa p.G262E STAP1_uc003hdf.3_Missense_Mutation_p.G262E NM_012108 NP_036240 Q9ULZ2 STAP1_HUMAN Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA. 262 SH2. cellular membrane fusion|intracellular protein transport cytoplasm NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 GAGACTCGAGGAAATTTAAGA 0.343000 111 9 0 0 1 0 0 VWA2 340706 broad.mit.edu 37 10 116037780 116037780 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:116037780C>T uc001lbl.1 + 6 995 c.674C>T c.(673-675)tCg>tTg p.S225L VWA2_uc001lbk.1_Missense_Mutation_p.S225L|VWA2_uc009xyf.1_5'UTR NM_198496 NP_940898 Q5GFL6 VWA2_HUMAN Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA. 225 extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) CTCAGCAGCTCGGCCATCTGC 0.647000 51 8 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3304435 3304435 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:3304435C>T uc002cun.1 - 1 673 c.633G>A c.(631-633)ggG>ggA p.G211G MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron NM_000243 NP_000234 O15553 MEFV_HUMAN Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. 211 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CCTGCAGCCTCCCCGCGGAGC 0.741000 22 5 0 0 1 0 0 GGNBP2 79893 broad.mit.edu 37 17 34934591 34934591 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:34934591C>T uc002hnb.3 + 6 1136 c.820C>T c.(820-822)Cgt>Tgt p.R274C GGNBP2_uc002hna.3_Missense_Mutation_p.R274C|GGNBP2_uc002hnc.1_Missense_Mutation_p.R103C NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN Homo sapiens gametogenetin binding protein 2 (GGNBP2), mRNA. 274 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle p.R274S(2) breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) TCTTTTGGGTCGTGCTGAGCC 0.438000 223 17 0 0 1 0 0 CPA1 1357 broad.mit.edu 37 7 130025680 130025680 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:130025680G>A uc003vpx.3 + 9 1060 c.988_splice c.e9-1 p.D330_splice CPA1_uc003vpw.2_Splice_Site_p.D164_splice NM_001868 NP_001859 P15085 CBPA1_HUMAN Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA. 330 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) TTTTGTCCAGGATCAGCTTTC 0.567000 35 4 0 0 1 0 0 ANG 283 broad.mit.edu 37 14 21162055 21162055 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:21162055C>T uc021rok.1 + 0 332 c.332C>T c.(331-333)tCc>tTc p.S111F ANG_uc001vxw.4_Missense_Mutation_p.S111F|RNASE4_uc001vxy.4_Intron|RNASE4_uc001vxx.4_Intron|ANG_uc001vxz.3_Missense_Mutation_p.S111F|RNASE4_uc001vya.3_Intron NM_001145 NP_001136 P03950 ANGI_HUMAN Homo sapiens angiogenin, ribonuclease, RNase A family, 5 (ANG), transcript variant 1, mRNA. 111 actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|rRNA transcription|response to hormone stimulus|response to hypoxia angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|rRNA binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1) 5 all_cancers(95;0.00387) all_cancers(140;0.196)|all_epithelial(140;0.156) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07) CATGGAGGTTCCCCCTGGCCT 0.478000 97 10 0 0 1 0 0 SEMA3G 56920 broad.mit.edu 37 3 52469918 52469918 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:52469918G>A uc003dea.1 - 15 2050 c.2050C>T c.(2050-2052)Cct>Tct p.P684S NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA. 684 multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) GGCTCCGGAGGGAACAGGTTG 0.642000 127 11 0 0 1 0 0 VSIG10 54621 broad.mit.edu 37 12 118533403 118533403 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:118533403C>T uc001tws.3 - 1 630 c.296G>A c.(295-297)gGa>gAa p.G99E NM_019086 NP_061959 Q8N0Z9 VSI10_HUMAN Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA. 99 Ig-like C2-type 1. integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 GGTGTAGATTCCCTCATCTCC 0.597000 142 10 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111696990 111696990 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:111696990A>T uc003puy.4 - 12 2909 c.2568T>A c.(2566-2568)aaT>aaA p.N856K REV3L_uc003pux.4_Missense_Mutation_p.N778K|REV3L_uc003puz.4_Missense_Mutation_p.N778K NM_002912 NP_002903 O60673 DPOLZ_HUMAN Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA. 856 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TTTGTATAAAATTATCTTTTG 0.348000 DNA polymerases (catalytic subunits) 53 3 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20330972 20330972 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:20330972C>T uc002dgv.3 - 6 1069 c.986G>A c.(985-987)aGc>aAc p.S329N GP2_uc002dgw.3_Missense_Mutation_p.S326N|GP2_uc002dgx.3_Missense_Mutation_p.S182N|GP2_uc002dgy.3_Missense_Mutation_p.S179N NM_001007240 NP_001007241 P55259 GP2_HUMAN Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA. 329 ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 AGCTTGGAGGCTGACTTTCAT 0.468000 111 6 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67913806 67913806 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:67913806T>C uc002eur.3 + 15 2114 c.1875T>C c.(1873-1875)agT>agC p.S625S EDC4_uc010cer.3_Silent_p.S244S|EDC4_uc010vkg.1_Silent_p.S557S|EDC4_uc002eus.3_Silent_p.S355S|EDC4_uc002eut.1_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA. 625 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) gcagcagcagtagcagcagcT 0.597000 43 3 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 179989173 179989174 + Missense_Mutation DNP AC CT CT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:179989173_179989174AC>CT uc002uni.4 - 10 1234_1235 c.1084_1085GT>AG c.(1084-1086)gtt>AGt p.V362S SESTD1_uc002unh.4_5'UTR NM_178123 NP_835224 Q86VW0 SESD1_HUMAN Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA. 362 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) TCGATAACAAACATCACTAAGT 0.416000 66 7 0 0 1 0 0 IGH 0 broad.mit.edu 37 16 31973434 31973434 + RNA SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:31973434G>A uc002ect.3 + 0 c.26G>A Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H186. GAGTCTGGGGGAGGCTTGGTC 0.562000 116 11 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 31351016 31351016 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:31351016C>T uc002hht.3 - 5 2085 c.1212G>A c.(1210-1212)aaG>aaA p.K404K ASIC2_uc002hhu.3_Silent_p.K353K NM_183377 NP_899233 Q16515 ACCN1_HUMAN Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA. 353 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) AATTGCTGTCCTTTTCCGCCA 0.542000 181 12 0 0 1 0 0 SERPINA9 327657 broad.mit.edu 37 14 94933591 94933591 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:94933591C>T uc001ydf.3 - 2 972 c.811G>A c.(811-813)Gag>Aag p.E271K SERPINA9_uc001yde.3_Missense_Mutation_p.E171K|SERPINA9_uc010avc.3_Missense_Mutation_p.E122K|SERPINA9_uc001ydg.3_Missense_Mutation_p.E235K|SERPINA9_uc001ydh.1_Missense_Mutation_p.E271K|SERPINA9_uc001ydi.1_Missense_Mutation_p.E235K NM_175739 NP_783866 Q86WD7 SPA9_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA. 253 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) CAGTTCAGCTCTGTATCCACC 0.517000 50 5 0 0 1 0 0 PRKY 5616 broad.mit.edu 37 Y 7194115 7194115 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrY:7194115C>T uc004fre.3 + 2 c.845C>T Homo sapiens protein kinase, Y-linked, pseudogene (PRKY), non-coding RNA. p.I168I(2) large_intestine(2)|lung(3)|skin(1) 6 CCAAGGAGATCGTCTACAGGG 0.547000 43 14 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48429196 48429196 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:48429196C>T uc001jfb.3 - 1 1118 c.690G>A c.(688-690)agG>agA p.R230R GDF10_uc009xnp.3_Silent_p.R229R|GDF10_uc009xnq.2_Silent_p.R230R NM_004962 NP_004953 P55107 BMP3B_HUMAN Homo sapiens growth differentiation factor 10 (GDF10), mRNA. 230 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CCCCCGGGTCCCTCTCCTCAG 0.687000 24 3 0 0 1 0 0 SLC43A2 124935 broad.mit.edu 37 17 1519997 1519997 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:1519997T>C uc002fsu.3 - 2 534 c.227A>G c.(226-228)aAc>aGc p.N76S SLC43A2_uc002fsv.3_Missense_Mutation_p.N76S|SLC43A2_uc002fsw.3_Missense_Mutation_p.N76S|SLC43A2_uc002fsx.3_Missense_Mutation_p.N76S NM_152346 NP_689559 Q8N370 LAT4_HUMAN Homo sapiens solute carrier family 43, member 2 (SLC43A2), mRNA. 76 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) GAGCCAGCCGTTCATCCAGCT 0.602000 57 7 0 0 1 0 0 CCRL2 9034 broad.mit.edu 37 3 46450225 46450225 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:46450225C>T uc010hjg.3 + 1 804 c.691C>T c.(691-693)Ctc>Ttc p.L231F CCRL2_uc003cpp.4_Missense_Mutation_p.L219F|CCRL2_uc010hjf.3_Missense_Mutation_p.L219F|CCRL2_uc021wxc.1_Missense_Mutation_p.L219F NM_001130910 NP_003956 O00421 CCRL2_HUMAN Homo sapiens chemokine (C-C motif) receptor-like 2 (CCRL2), transcript variant 2, mRNA. 219 chemotaxis|inflammatory response integral to plasma membrane CCR chemokine receptor binding|chemokine receptor activity p.R230M(1) lung(3)|ovary(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) TTTTACATTTCTCTATGTGCA 0.403000 139 20 0 0 1 0 0 RAB37 326624 broad.mit.edu 37 17 72739297 72739297 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:72739297C>T uc010wrc.2 + 3 481 c.291C>T c.(289-291)ttC>ttT p.F97F RAB37_uc002jlc.2_Silent_p.F85F|RAB37_uc002jld.2_Silent_p.F85F|RAB37_uc010dfu.3_Silent_p.F85F|RAB37_uc010wrb.2_Silent_p.F60F|RAB37_uc002jlk.3_Silent_p.F92F|RAB37_uc010wre.2_Silent_p.F55F NM_001163989 NP_001157461 Q96AX2 RAB37_HUMAN Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 4, mRNA. 92 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 AGGAACGGTTCCGAAGCGTCA 0.602000 216 19 0 0 1 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7531995 7531995 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:7531995G>A uc002mgi.3 + 14 2689 c.2436G>A c.(2434-2436)ctG>ctA p.L812L ARHGEF18_uc010xjm.1_Silent_p.L654L|ARHGEF18_uc002mgh.3_Silent_p.L654L|ARHGEF18_uc002mgj.1_Silent_p.L455L NM_001130955 NP_056133 Q6ZSZ5 ARHGI_HUMAN Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA. 812 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) AGCTGCTCCTGAACCTTCAGG 0.667000 146 12 0 0 1 0 0 PRLHR 2834 broad.mit.edu 37 10 120354502 120354502 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:120354502G>A uc001ldp.1 - 1 394 c.255C>T c.(253-255)atC>atT p.I85I PRLHR_uc021pzm.1_Silent_p.I85I NM_004248 NP_004239 P49683 PRLHR_HUMAN Homo sapiens prolactin releasing hormone receptor (PRLHR), mRNA. 85 female pregnancy integral to plasma membrane neuropeptide Y receptor activity large_intestine(2)|lung(8)|ovary(1)|skin(1) 12 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) GCACCCGCGCGATCACCAGCA 0.662000 134 14 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24207478 24207478 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:24207478G>A uc003xdy.3 + 18 2175 c.2092G>A c.(2092-2094)Gat>Aat p.D698N ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.D385N NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 698 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) GCAGAAGAAAGATCAGAGGTG 0.413000 69 6 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140222568 140222568 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140222568C>T uc003lhs.2 + 0 1662 c.1662C>T c.(1660-1662)ttC>ttT p.F554F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.F554F NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 568 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGGTGTTCGTGCTGGACG 0.701000 156 12 0 0 1 0 0 DOC2A 8448 broad.mit.edu 37 16 30021292 30021292 + Silent SNP C T T rs148944042 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:30021292C>T uc002dvn.3 - 1 443 c.252G>A c.(250-252)tcG>tcA p.S84S BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Non-coding_Transcript|DOC2A_uc002dvo.3_Silent_p.S84S|DOC2A_uc002dvp.3_Silent_p.S84S|DOC2A_uc002dvq.3_Silent_p.S84S NM_003586 NP_003577 Q14183 DOC2A_HUMAN Homo sapiens double C2-like domains, alpha (DOC2A), mRNA. 84 Interaction with UNC13D and DYNLT1. nervous system development|regulation of calcium ion-dependent exocytosis cell junction|lysosome|synaptic vesicle membrane|synaptosome calcium-dependent phospholipid binding|protein binding|transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2) 9 TGGCATCATCCGAGTCATAGC 0.701000 92 8 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35763653 35763653 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:35763653C>T uc003jjo.3 + 25 3761 c.3650C>T c.(3649-3651)tCt>tTt p.S1217F SPEF2_uc003jjp.1_Missense_Mutation_p.S703F NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1217 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATATCCATTTCTCTGGAAACA 0.358000 46 3 0 0 1 0 0 GABRP 2568 broad.mit.edu 37 5 170239110 170239110 + Missense_Mutation SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:170239110T>G uc003mau.3 + 9 1369 c.1171T>G c.(1171-1173)Ttc>Gtc p.F391V GABRP_uc011dev.2_3'UTR NM_014211 NP_055026 O00591 GBRP_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA. 391 F -> L (in dbSNP:rs1063310). cell junction|chloride channel complex|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAGCGACAAGTTCAAGTTTGT 0.403000 49 8 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81954867 81954867 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:81954867C>T uc002fgt.3 + 20 2478 c.2300C>T c.(2299-2301)cCg>cTg p.P767L PLCG2_uc010chg.1_Missense_Mutation_p.P767L NM_002661 NP_002652 P16885 PLCG2_HUMAN Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA. 767 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 GAAATCAATCCGTCCATGGTA 0.438000 58 6 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89990047 89990047 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:89990047C>T uc003kju.3 + 32 7570 c.7474C>T c.(7474-7476)Ctt>Ttt p.L2492F GPR98_uc003kjt.3_Missense_Mutation_p.L198F|GPR98_uc003kjv.3_Missense_Mutation_p.L92F NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2492 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGTAGCATCTCTTTTTAGTGG 0.493000 39 7 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3235751 3235751 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:3235751C>T uc004crg.4 - 5 6128 c.5971G>A c.(5971-5973)Gtg>Atg p.V1991M NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1991 Ig-like C2-type 4. extracellular region p.V1991A(1) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTTTGCCACACCCTCCTGTCA 0.582000 22 6 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112360 248112360 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:248112360C>T uc001idt.1 + 0 201 c.201C>T c.(199-201)ctC>ctT p.L67L OR2L13_uc001ids.3_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA. 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) AGCTCTCCCTCATTGACCTAA 0.443000 337 41 0 0 1 0 0 SYCE1 93426 broad.mit.edu 37 10 135368926 135368926 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:135368926C>T uc001lno.2 - 11 952 c.847G>A c.(847-849)Gaa>Aaa p.E283K CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.E155K|SYCE1_uc009ybn.2_Missense_Mutation_p.E283K|SYCE1_uc001lnn.2_Missense_Mutation_p.E247K NM_001143764 NP_001137236 Q8N0S2 SYCE1_HUMAN Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA. 283 Gln-rich. cell division central element breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1) 19 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CCATGCTTTTCCAGCTCTTCC 0.562000 83 5 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24873956 24873957 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:24873956_24873957GG>AA uc001isb.2 - 25 5748_5749 c.5261_5262CC>TT c.(5260-5262)tcc>tTT p.S1754F ARHGAP21_uc010qdb.1_Non-coding_Transcript NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA. 1753 Interaction with CTNNA1. signal transduction Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 CCTGTTTTTCGGATTCGCCTCT 0.441000 93 8 0 0 1 0 0 CYP2A6 1548 broad.mit.edu 37 19 41349794 41349794 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:41349794G>A uc002opl.4 - 8 1413 c.1392C>T c.(1390-1392)tcC>tcT p.S464S NM_000762 NP_000753 P11509 CP2A6_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA. 464 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) GTGACTGGGAGGACTTGAGGC 0.567000 107 17 0 0 1 0 0 HRASLS2 54979 broad.mit.edu 37 11 63327644 63327644 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:63327644C>T uc001nxg.1 - 1 90 c.31G>A c.(31-33)Gga>Aga p.G11R NM_017878 NP_060348 Q9NWW9 HRSL2_HUMAN Homo sapiens HRAS-like suppressor 2 (HRASLS2), mRNA. 11 lipid catabolic process cytoplasm acyltransferase activity|hydrolase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 ATCAGGTCTCCAAGTCTCGGT 0.542000 146 16 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16914225 16914225 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:16914225G>A uc009vos.1 - 9 1449 c.561C>T c.(559-561)gcC>gcT p.A187A NBPF1_uc009vot.1_5'Flank|NBPF1_uc001ayz.1_5'Flank|NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 187 NBPF 1. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GTTACCTGGGGGCAGATGATT 0.438000 537 24 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161134085 161134085 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:161134085C>T uc003qtm.4 + 4 587 c.475C>T c.(475-477)Ccg>Tcg p.P159S NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 159 Kringle 1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity p.D158N(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AGACAACGATCCGCAGGGGCC 0.483000 132 9 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283540 152283541 + Missense_Mutation DNP AC CT CT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:152283540_152283541AC>CT uc001ezu.1 - 2 3857_3858 c.3821_3822GT>AG c.(3820-3822)agt>aAG p.S1274K AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1274 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTCACTGTCACTGTCCTGGCT 0.559000 Ichthyosis 313 35 0 0 1 0 0 LELP1 149018 broad.mit.edu 37 1 153177244 153177244 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:153177244C>T uc001fbl.3 + 1 171 c.61C>T c.(61-63)Ccc>Tcc p.P21S LELP1_uc021ozv.1_Missense_Mutation_p.P21S NM_001010857 NP_001010857 Q5T871 LELP1_HUMAN Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA. 21 Cys/Pro-rich. p.P21S(2) NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1) 19 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GAACTGCGATCCCAAGTGTGA 0.443000 111 11 0 0 1 0 0 PPM1J 333926 broad.mit.edu 37 1 113253678 113253678 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:113253678G>A uc001ect.1 - 6 1089 c.1062C>T c.(1060-1062)atC>atT p.I354I PPM1J_uc009wgl.1_Non-coding_Transcript|PPM1J_uc001ecs.1_Silent_p.I148I NM_005167 NP_005158 Q5JR12 PPM1J_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA. 354 PP2C-like. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 14 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCTCCAGCTCGATCTTTTTGT 0.562000 409 57 0 0 1 0 0 LRRC18 474354 broad.mit.edu 37 10 50118286 50118286 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:50118286G>A uc001jhd.3 - 1 862 c.782C>T c.(781-783)tCc>tTc p.S261F WDFY4_uc001jha.4_Intron NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA. 261 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GCTACTCTAGGAAGATGTCAA 0.502000 92 4 0 0 1 0 0 ZNF33B 7582 broad.mit.edu 37 10 43088544 43088544 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:43088544G>A uc001jaf.1 - 4 1969 c.1854C>T c.(1852-1854)ttC>ttT p.F618F ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.F506F|ZNF33B_uc001jad.3_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN Homo sapiens zinc finger protein 33B (ZNF33B), mRNA. 618 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 ACTTCTGGCAGAAGGTTTTTC 0.373000 91 5 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22941776 22941776 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:22941776G>A uc021urt.1 - 3 1090 c.935C>T c.(934-936)cCc>cTc p.P312L NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GCATTTGTAGGGTTTCTCTCC 0.368000 61 8 0 0 1 0 0 HIATL1 84641 broad.mit.edu 37 9 97207282 97207282 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:97207282C>T uc004aur.3 + 5 816 c.547C>T c.(547-549)Ccg>Tcg p.P183S HIATL1_uc011luh.2_Missense_Mutation_p.P118S NM_032558 NP_115947 Q5SR56 HIAL1_HUMAN Homo sapiens hippocampus abundant transcript-like 1 (HIATL1), mRNA. 183 transmembrane transport integral to membrane|plasma membrane protein binding|transporter activity endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 11 Acute lymphoblastic leukemia(62;0.136) TGTCAGCAGCCCGGCCATTGG 0.557000 168 31 0 0 1 0 0 ZNF212 7988 broad.mit.edu 37 7 148950994 148950994 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:148950994C>T uc003wfp.3 + 4 1104 c.976C>T c.(976-978)Cgc>Tgc p.R326C NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN Homo sapiens zinc finger protein 212 (ZNF212), mRNA. 326 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) GATCACCTTCCGCTATAAGCA 0.587000 65 5 0 0 1 0 0 DPPA5 340168 broad.mit.edu 37 6 74063900 74063900 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:74063900G>A uc003pgs.2 - 0 100 c.49C>T c.(49-51)Ccc>Tcc p.P17S NM_001025290 NP_001020461 A6NC42 DPPA5_HUMAN Homo sapiens developmental pluripotency associated 5 (DPPA5), mRNA. 17 multicellular organismal development cytoplasm RNA binding NS(1)|endometrium(1)|lung(5) 7 AGGTCTTCGGGAACTTTCACC 0.582000 74 6 0 0 1 0 0 AMTN 401138 broad.mit.edu 37 4 71384527 71384527 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:71384527A>G uc003hfk.1 + 1 122 c.33A>G c.(31-33)ctA>ctG p.L11L AMTN_uc010ihy.1_Silent_p.L11L NM_212557 NP_997722 Q6UX39 AMTN_HUMAN Homo sapiens amelotin (AMTN), mRNA. 11 biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth basal lamina|cell-cell junction p.L11L(1) NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1) 19 Lung(101;0.235) TTTGTCTTCTAGGATCAACTC 0.388000 103 4 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128488743 128488743 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:128488743G>A uc003vnz.4 + 26 4918 c.4709G>A c.(4708-4710)gGc>gAc p.G1570D FLNC_uc003voa.4_Missense_Mutation_p.G1570D NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1570 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CGGGACGCGGGCGAGGGGTTG 0.657000 156 8 0 0 1 0 0 ZFP1 162239 broad.mit.edu 37 16 75203589 75203589 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:75203589C>T uc002fdq.3 + 3 705 c.581C>T c.(580-582)tCc>tTc p.S194F ZFP1_uc010cgt.3_Missense_Mutation_p.S161F|ZFP1_uc002fdo.3_Missense_Mutation_p.S194F|ZFP1_uc002fdp.3_Missense_Mutation_p.S139F|ZFP1_uc010cgs.3_Missense_Mutation_p.S139F NM_153688 NP_710155 Q6P2D0 ZFP1_HUMAN Homo sapiens zinc finger protein 1 homolog (mouse) (ZFP1), mRNA. 194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 12 AAGGCTTTCTCCTTTAAGTCA 0.373000 41 7 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91660864 91660864 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:91660864C>T uc003ulg.3 + 15 4509 c.4284C>T c.(4282-4284)atC>atT p.I1428I AKAP9_uc003ule.2_Silent_p.I1440I|AKAP9_uc003ulf.3_Silent_p.I1428I|AKAP9_uc003uli.3_Silent_p.I1053I NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 1440 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport Golgi apparatus|centrosome|cytosol receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAACAAATATCGTTAAGTTGC 0.289000 T BRAF papillary thyroid 84 5 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9943663 9943663 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:9943663G>A uc010uym.2 - 5 1588 c.1278C>T c.(1276-1278)acC>acT p.T426T GRIN2A_uc002czo.4_Silent_p.T426T|GRIN2A_uc010uyn.2_Silent_p.T269T|GRIN2A_uc002czr.4_Silent_p.T426T NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 426 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.T426T(2) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CACACGTCTCGGTCAGGGGGT 0.542000 87 6 0 0 1 0 0 CPXM1 56265 broad.mit.edu 37 20 2775066 2775066 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:2775066C>T uc002wgu.3 - 13 2049 c.1975G>A c.(1975-1977)Gat>Aat p.D659N CPXM1_uc010gas.3_Missense_Mutation_p.D585N NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA. 659 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CGCCAATAATCCCCGCCCCAC 0.597000 73 6 0 0 1 0 0 MUC13 56667 broad.mit.edu 37 3 124632455 124632455 + Missense_Mutation SNP G C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:124632455G>C uc003ehq.2 - 6 1074 c.1035C>G c.(1033-1035)tgC>tgG p.C345W NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN Homo sapiens mucin 13, cell surface associated (MUC13), mRNA. 345 EGF-like 2. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 GGTCAGATTTGCAATCGCATG 0.423000 92 14 0 0 1 0 0 CD200R1L 344807 broad.mit.edu 37 3 112546417 112546417 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:112546417G>A uc003dzi.1 - 2 453 c.227C>T c.(226-228)tCc>tTc p.S76F CD200R1L_uc010hqf.1_Missense_Mutation_p.S55F|CD200R1L_uc011bhw.1_Missense_Mutation_p.S55F NM_001008784 NP_001186144 Q6Q8B3 MO2R2_HUMAN Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA. 76 Ig-like V-type. integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 TTTTGTGCAGGAAGGCTGGCC 0.418000 70 8 0 0 1 0 0 DRD1 1812 broad.mit.edu 37 5 174869338 174869338 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:174869338T>C uc003mcz.3 - 1 1710 c.765A>G c.(763-765)caA>caG p.Q255Q DRD1_uc021yia.1_Silent_p.Q255Q NM_000794 NP_000785 P21728 DRD1_HUMAN Homo sapiens dopamine receptor D1 (DRD1), mRNA. 255 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) AACTTTCCGGTTGAGAACATT 0.478000 80 6 0 0 1 0 0 IL36A 27179 broad.mit.edu 37 2 113765534 113765534 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:113765534C>T uc010yxr.2 + 3 390 c.390C>T c.(388-390)gtC>gtT p.V130V NM_014440 NP_055255 Q9UHA7 IL36A_HUMAN Homo sapiens interleukin 36, alpha (IL36A), mRNA. 130 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 TCATCGCTGTCAGCTCTGAAG 0.517000 65 4 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55136252 55136252 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:55136252C>T uc010rif.2 + 0 893 c.893C>T c.(892-894)tCc>tTc p.S298F NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA. 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 ATTGATAAATCCATGACTGTA 0.403000 179 6 0 0 1 0 0 NOL8 55035 broad.mit.edu 37 9 95076677 95076677 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:95076677T>A uc022bjx.1 - 6 2567 c.2230A>T c.(2230-2232)Aat>Tat p.N744Y NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.N676Y NM_017948 NP_060418 Q76FK4 NOL8_HUMAN Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA. 744 DNA replication|positive regulation of cell growth nucleolus RNA binding|nucleotide binding|protein binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 TCTGACGAATTACTAATAGAA 0.438000 32 3 0 0 1 0 0 MYRIP 25924 broad.mit.edu 37 3 40231452 40231452 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:40231452C>T uc003cka.3 + 9 1298 c.1163C>T c.(1162-1164)tCt>tTt p.S388F MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.S388F|MYRIP_uc010hhw.3_Missense_Mutation_p.S299F|MYRIP_uc011ayz.2_Missense_Mutation_p.S201F|FLJ33065_uc003ckb.3_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA. 388 Myosin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) AGTGTGGCATCTGCCTACGAT 0.637000 58 10 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065737 9065737 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9065737G>A uc002mkp.3 - 2 21913 c.21709C>T c.(21709-21711)Cag>Tag p.Q7237* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7239 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GACTCTTTCTGAATTCTGCTA 0.468000 129 8 0 0 1 0 0 FST 10468 broad.mit.edu 37 5 52779399 52779399 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:52779399C>T uc003jpd.3 + 2 701 c.343C>T c.(343-345)Cgc>Tgc p.R115C FST_uc003jpc.3_Missense_Mutation_p.R115C NM_013409 NP_037541 P19883 FST_HUMAN Homo sapiens follistatin (FST), transcript variant FST344, mRNA. 115 Follistatin-like 1.|Kazal-like 1. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1) 15 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) GAACAAACCCCGCTGCGTCTG 0.512000 71 7 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22902820 22902820 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:22902820C>T uc001bfx.1 + 2 395 c.270C>T c.(268-270)ccC>ccT p.P90P EPHA8_uc001bfw.3_Silent_p.P90P NM_020526 NP_065387 P29322 EPHA8_HUMAN Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA. 90 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GCTGGGTCCCCCGAGACGGCG 0.612000 83 7 0 0 1 0 0 CALML3 810 broad.mit.edu 37 10 5567436 5567436 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:5567436G>A uc001iie.1 + 0 513 c.388G>A c.(388-390)Gac>Aac p.D130N AK128534_uc001iid.1_5'Flank NM_005185 NP_005176 P27482 CALL3_HUMAN Homo sapiens calmodulin-like 3 (CALML3), mRNA. 130 EF-hand 4. calcium ion binding p.D130N(2) endometrium(3)|lung(2) 5 CCGGGCCGCGGACACGGACGG 0.682000 63 4 0 0 1 0 0 NOD2 64127 broad.mit.edu 37 16 50763788 50763788 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:50763788G>A uc002egm.1 + 10 3131 c.3026G>A c.(3025-3027)aGg>aAg p.R1009K NOD2_uc010vgq.1_Missense_Mutation_p.R54K NM_022162 NP_071445 Q9HC29 NOD2_HUMAN Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA. 1009 JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) GCCCTTGAAAGGAATGACACC 0.507000 58 6 0 0 1 0 0 RSPH1 89765 broad.mit.edu 37 21 43897554 43897554 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:43897554C>T uc002zbg.3 - 7 679 c.574_splice c.e7-1 p.E192_splice NM_080860 NP_543136 Q8WYR4 RSPH1_HUMAN Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA. 192 meiosis cytosol|nucleus large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1) 12 TCTCCTCTTTCCTATTTTAAG 0.398000 94 4 0 0 1 0 0 KRT83 3889 broad.mit.edu 37 12 52713040 52713040 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:52713040C>T uc001saf.2 - 1 556 c.493G>A c.(493-495)Gag>Aag p.E165K NM_002282 NP_002273 P78385 KRT83_HUMAN Homo sapiens keratin 83 (KRT83), mRNA. 165 Coil 1B.|Rod. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CGCAGAGTCTCGATGTAGCCA 0.602000 178 18 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131104275 131104275 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:131104275G>A uc003yta.2 - 24 2744 c.2516C>T c.(2515-2517)tCc>tTc p.S839F ASAP1_uc003ysz.2_Missense_Mutation_p.S650F|ASAP1_uc011liw.2_Missense_Mutation_p.S832F NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA. 839 Pro-rich. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 GGGAGGGTCGGATAGGGTTCT 0.592000 134 10 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77211023 77211023 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:77211023C>T uc010xfg.2 + 4 2112 c.1659C>T c.(1657-1659)atC>atT p.I553I NFATC1_uc002lnc.1_Silent_p.I553I|NFATC1_uc010xff.1_Silent_p.I553I|NFATC1_uc002lnd.3_Silent_p.I553I|NFATC1_uc002lne.3_Silent_p.I81I|NFATC1_uc010xfh.2_Silent_p.I553I|NFATC1_uc010xfi.1_Silent_p.I540I|NFATC1_uc010xfj.2_Silent_p.I81I|NFATC1_uc002lnf.3_Silent_p.I540I|NFATC1_uc002lng.3_Silent_p.I540I|NFATC1_uc010xfk.2_Silent_p.I540I NM_006162 NP_006153 O95644 NFAC1_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA. 553 RHD. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) AGACGGACATCGGGAGGAAGA 0.567000 191 10 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72324876 72324876 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:72324876C>T uc002atl.4 - 2 1367 c.894G>A c.(892-894)aaG>aaA p.K298K MYO9A_uc010biq.3_5'UTR|MYO9A_uc002ato.3_Silent_p.K298K|MYO9A_uc002atn.1_Silent_p.K298K NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN Homo sapiens myosin IXA (MYO9A), mRNA. 298 Myosin head-like 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CTTGAATAAACTTCCCAAAAC 0.333000 41 3 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94113902 94113902 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:94113902G>A uc001pet.2 - 3 857 c.685C>T c.(685-687)Cct>Tct p.P229S NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA. 229 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GCTGGCTCAGGGAAGTCTGGC 0.572000 78 6 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39885209 39885209 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:39885209C>T uc001zkh.3 + 17 2955 c.2776C>T c.(2776-2778)Cga>Tga p.R926* THBS1_uc010bbi.3_Nonsense_Mutation_p.R398* NM_003246 NP_003237 P07996 TSP1_HUMAN Homo sapiens thrombospondin 1 (THBS1), mRNA. 926 activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) AGGCGATGGTCGAGGTGATGC 0.433000 41 5 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134986725 134986725 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:134986725C>T uc004ezh.3 + 3 477 c.310C>T c.(310-312)Cct>Tct p.P104S SAGE1_uc010nry.1_Intron|SAGE1_uc011mvv.2_Missense_Mutation_p.P104S NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN Homo sapiens sarcoma antigen 1 (SAGE1), mRNA. 104 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) TCCACCATGGCCTGGTAATAT 0.428000 53 10 0 0 1 0 0 TFEC 22797 broad.mit.edu 37 7 115594656 115594656 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:115594656C>T uc003vhj.2 - 4 676 c.423G>A c.(421-423)aaG>aaA p.K141K TFEC_uc003vhm.2_Silent_p.K74K|TFEC_uc003vhk.2_Silent_p.K112K|TFEC_uc003vhl.4_Silent_p.K112K|TFEC_uc011kmw.2_Silent_p.K231K NM_012252 NP_036384 O14948 TFEC_HUMAN Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA. 141 Helix-loop-helix motif. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity p.K141fs*42(1) NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) TGTGGTTGTCCTTTTTTTGTC 0.333000 36 3 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16918926 16918926 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:16918926G>A uc002neu.4 + 17 4688 c.4266G>A c.(4264-4266)tgG>tgA p.W1422* NWD1_uc002net.4_Nonsense_Mutation_p.W1287*|NWD1_uc002nev.4_Nonsense_Mutation_p.W1216*|NWD1_uc021uqg.1_Nonsense_Mutation_p.W1287* NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 1422 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CACGCAAGTGGAAATTCGAGA 0.567000 73 4 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160128845 160128845 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:160128845G>A uc001fve.4 + 4 1058 c.579G>A c.(577-579)gtG>gtA p.V193V ATP1A4_uc001fvf.4_Non-coding_Transcript NM_144699 NP_653300 Q13733 AT1A4_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA. 193 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.E192E(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TACAAGAGGTGGTGTTGGGAG 0.493000 69 7 0 0 1 0 0 KHDC1 80759 broad.mit.edu 37 6 73951283 73951283 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:73951283G>A uc003pgo.3 - 4 1184 c.683C>T c.(682-684)tCg>tTg p.S228L KHDC1_uc011dyl.1_Intron|KHDC1_uc003pgn.4_Missense_Mutation_p.S155L NM_001251874 NP_001238803 Q4VXA5 KHDC1_HUMAN Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA. 228 integral to membrane RNA binding large_intestine(1)|lung(4)|skin(1) 6 ATGGAAACCCGAACAACCAAT 0.493000 93 7 0 0 1 0 0 TNRC6B 23112 broad.mit.edu 37 22 40708576 40708576 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:40708576C>T uc011aor.2 + 17 4714 c.4503C>T c.(4501-4503)acC>acT p.T1501T TNRC6B_uc003aym.3_Silent_p.T697T|TNRC6B_uc003ayn.4_Silent_p.T1391T|TNRC6B_uc003ayo.3_Silent_p.T1248T NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA. 1501 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body RNA binding|nucleotide binding breast(1) 1 CCTATGTCACCCCAGGAAGTG 0.478000 247 32 0 0 1 0 0 OR6C1 390321 broad.mit.edu 37 12 55714957 55714957 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:55714957T>C uc010spi.2 + 0 574 c.574T>C c.(574-576)Ttc>Ctc p.F192L NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA. 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 AGACACAAAATTCTTAGAGGT 0.338000 43 5 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128294253 128294253 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:128294253C>T uc003qbk.3 - 28 4547 c.4180G>A c.(4180-4182)Gaa>Aaa p.E1394K PTPRK_uc010kfc.3_Missense_Mutation_p.E1401K|PTPRK_uc003qbj.3_Missense_Mutation_p.E1395K|PTPRK_uc011ebu.2_Missense_Mutation_p.E1417K NM_002844 NP_002835 Q15262 PTPRK_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA. 1394 Tyrosine-protein phosphatase 2. cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity p.E1395K(1) PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TTCACCATTTCAACAACGATG 0.468000 123 12 0 0 1 0 0 DBX1 120237 broad.mit.edu 37 11 20180804 20180804 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:20180804G>A uc021qez.1 - 1 402 c.399C>T c.(397-399)ccC>ccT p.P133P DBX1_uc021qey.1_Silent_p.P134P NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN Homo sapiens developing brain homeobox 1 (DBX1), mRNA. 134 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 CGAAGGTCTTGGGAGGGACGC 0.542000 118 8 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119567939 119567939 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:119567939G>A uc004bjt.2 - 11 2316 c.2215C>T c.(2215-2217)Caa>Taa p.Q739* ASTN2_uc022bml.1_Nonsense_Mutation_p.Q435*|ASTN2_uc022bmm.1_Nonsense_Mutation_p.Q439* NM_014010 NP_054729 O75129 ASTN2_HUMAN Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA. 790 EGF-like 3. integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 ACTTGGCCTTGGTTCACATGC 0.498000 104 19 0 0 1 0 0 SLC40A1 30061 broad.mit.edu 37 2 190428937 190428937 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:190428937G>A uc002uqp.4 - 6 1126 c.775C>T c.(775-777)Ccc>Tcc p.P259S NM_014585 NP_055400 Q9NP59 S40A1_HUMAN Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA. 259 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) CCCTCCAGGGGTTTTGGCTCA 0.408000 82 4 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129371212 129371212 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:129371212C>T uc021zfb.1 + 1 367 c.262C>T c.(262-264)Caa>Taa p.Q88* LAMA2_uc003qbn.3_Nonsense_Mutation_p.Q88*|LAMA2_uc003qbo.3_Nonsense_Mutation_p.Q88* NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 88 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AATCTGCAATCAAAACAGCAG 0.448000 74 6 0 0 1 0 0 FBXL6 26233 broad.mit.edu 37 8 145579670 145579670 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:145579670G>A uc003zcb.3 - 7 1506 c.1430C>T c.(1429-1431)tCt>tTt p.S477F C8ORFK29_uc011llb.2_5'Flank|C8ORFK29_uc010mfw.3_5'Flank|C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_Missense_Mutation_p.S204F|FBXL6_uc003zca.3_Missense_Mutation_p.S471F|FBXL6_uc010mfx.3_Missense_Mutation_p.S238F|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank NM_012162 NP_036294 Q8N531 FBXL6_HUMAN Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA. 477 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) GAGGTTAAGAGAGCACAGGGC 0.627000 99 4 0 0 1 0 0 SREBF1 6720 broad.mit.edu 37 17 17723577 17723577 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:17723577G>A uc002gru.2 - 1 544 c.350C>T c.(349-351)tCc>tTc p.S117F SREBF1_uc002grp.2_5'Flank|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_5'UTR|SREBF1_uc002grs.2_Missense_Mutation_p.S93F|SREBF1_uc002grt.2_Missense_Mutation_p.S147F|SREBF1_uc010cpp.1_Missense_Mutation_p.S93F|SREBF1_uc010cpq.1_Missense_Mutation_p.S117F NM_004176 NP_004167 P36956 SRBP1_HUMAN Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA. 117 Pro/Ser-rich. cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 AGGCCCAGGGGAGAAAGCGGG 0.662000 106 8 0 0 1 0 0 MARK1 4139 broad.mit.edu 37 1 220791732 220791732 + Missense_Mutation SNP C G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:220791732C>G uc009xdw.3 + 7 1230 c.633C>G c.(631-633)aaC>aaG p.N211K MARK1_uc001hmn.4_Missense_Mutation_p.N211K|MARK1_uc010pun.2_Missense_Mutation_p.N211K|MARK1_uc001hmm.4_Missense_Mutation_p.N189K NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA. 211 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.G210G(1) central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) CAGTTGGGAACAAATTGGACA 0.413000 37 5 0 0 1 0 0 CCDC102B 79839 broad.mit.edu 37 18 66506047 66506047 + Silent SNP G A A rs147553785 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:66506047G>A uc002lkk.2 + 4 934 c.711G>A c.(709-711)acG>acA p.T237T CCDC102B_uc002lki.2_Silent_p.T237T|CCDC102B_uc002lkj.1_Silent_p.T237T NM_001093729 NP_079057 Q68D86 C102B_HUMAN Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA. 237 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) ACGGTGAAACGAAAACTGGGC 0.373000 66 8 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2604936 2604936 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:2604936G>A uc002wgf.1 + 16 2215 c.2200G>A c.(2200-2202)Gat>Aat p.D734N TMC2_uc002wgg.1_Missense_Mutation_p.D718N NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN Homo sapiens transmembrane channel-like 2 (TMC2), mRNA. 734 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 CAGAATGTACGATGTCCTCCA 0.507000 73 4 0 0 1 0 0 DTNBP1 84062 broad.mit.edu 37 6 15627669 15627669 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:15627669C>T uc003nbm.3 - 4 449 c.260G>A c.(259-261)tGg>tAg p.W87* DTNBP1_uc003nbl.3_Nonsense_Mutation_p.W6*|DTNBP1_uc010jph.3_Nonsense_Mutation_p.W74*|DTNBP1_uc003nbp.3_Nonsense_Mutation_p.W87* NM_032122 NP_115498 Q96EV8 DTBP1_HUMAN Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA. 87 actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) TTTCTTCTCCCAGTGCGCAGA 0.493000 Hermansky-Pudlak syndrome 32 3 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152276920 152276920 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:152276920C>T uc001ezu.1 - 2 10478 c.10442G>A c.(10441-10443)gGa>gAa p.G3481E NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3481 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTTCTGGATCCTGACTGCCC 0.562000 Ichthyosis 471 40 0 0 1 0 0 TIFAB 497189 broad.mit.edu 37 5 134785536 134785536 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:134785536C>T uc003law.4 - 1 295 c.94G>A c.(94-96)Gat>Aat p.D32N C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Missense_Mutation_p.D32N NM_001099221 NP_001092691 Q6ZNK6 TIFAB_HUMAN Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA. 32 breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGGCTGGTATCATGCTGCAGC 0.652000 101 11 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86468384 86468384 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:86468384G>A uc003uid.3 + 3 2653 c.1554G>A c.(1552-1554)atG>atA p.M518I GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.M390I|GRM3_uc010leh.3_Missense_Mutation_p.M110I NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 518 synaptic transmission integral to plasma membrane p.M518I(2)|p.E517K(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CCAATGAAATGAAGAATATGC 0.522000 95 13 0 0 1 0 0 DZIP1 22873 broad.mit.edu 37 13 96237103 96237103 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:96237103C>T uc001vmk.3 - 21 3263 c.2411G>A c.(2410-2412)gGa>gAa p.G804E DZIP1_uc001vmj.3_Missense_Mutation_p.G280E|DZIP1_uc001vml.3_Missense_Mutation_p.G785E|DZIP1_uc001vmm.3_5'Flank NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA. 804 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) AGATTTTTTTCCCAAAGATAT 0.428000 55 6 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20625867 20625867 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:20625867G>A uc001mqd.3 + 2 849 c.576G>A c.(574-576)ggG>ggA p.G192G SLC6A5_uc009yic.3_Intron NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA. 192 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) AGGCCCGAGGGAACTGGTCCA 0.597000 197 17 0 0 1 0 0 OR10A5 144124 broad.mit.edu 37 11 6867198 6867198 + Silent SNP C T T rs139785865 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:6867198C>T uc001met.1 + 0 285 c.285C>T c.(283-285)ttC>ttT p.F95F NM_178168 NP_835462 Q9H207 O10A5_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA. 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CCATCTCCTTCCTTGGCTGTG 0.498000 52 3 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140222697 140222697 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140222697G>A uc003lhs.2 + 0 1791 c.1791G>A c.(1789-1791)gtG>gtA p.V597V PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.V597V NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 610 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.R596Q(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGCGCAGTGGACGCCGACT 0.692000 110 7 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111604089 111604089 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:111604089G>A uc010hqa.3 + 1 1576 c.1165G>A c.(1165-1167)Gaa>Aaa p.E389K PHLDB2_uc003dyc.3_Missense_Mutation_p.E416K|PHLDB2_uc003dyd.3_Missense_Mutation_p.E389K|PHLDB2_uc003dyg.3_Missense_Mutation_p.E389K|PHLDB2_uc003dyh.3_Missense_Mutation_p.E389K|PHLDB2_uc003dye.4_Missense_Mutation_p.E389K|PHLDB2_uc003dyf.4_Missense_Mutation_p.E389K NM_001134438 NP_001127911 Q86SQ0 PHLB2_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA. 389 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TGGATCTGTGGAATTTGATGA 0.512000 42 6 0 0 1 0 0 DGKH 160851 broad.mit.edu 37 13 42763274 42763274 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:42763274G>A uc001uyl.2 + 14 1808 c.1741G>A c.(1741-1743)Gaa>Aaa p.E581K DGKH_uc010tfh.2_Missense_Mutation_p.E581K|DGKH_uc001uym.2_Missense_Mutation_p.E581K|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Missense_Mutation_p.E336K|DGKH_uc001uyo.2_Missense_Mutation_p.E445K|DGKH_uc010tfj.2_Missense_Mutation_p.E445K|DGKH_uc001uyp.3_Non-coding_Transcript NM_178009 NP_821077 Q86XP1 DGKH_HUMAN Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA. 581 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) CATTGTGGAAGAAGATGCTGT 0.532000 50 5 0 0 1 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133666116 133666116 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:133666116C>T uc003eqa.4 - 8 1553 c.1279G>A c.(1279-1281)Gaa>Aaa p.E427K SLCO2A1_uc011blv.2_Missense_Mutation_p.E246K NM_005630 NP_005621 Q92959 SO2A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA. 427 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding p.A426A(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 GGGTAGACTTCGGCCACAGTT 0.498000 59 9 0 0 1 0 0 ALX1 8092 broad.mit.edu 37 12 85680754 85680754 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:85680754C>T uc001tae.4 + 2 659 c.655C>T c.(655-657)Cca>Tca p.P219S NM_006982 NP_008913 Q15699 ALX1_HUMAN Homo sapiens ALX homeobox 1 (ALX1), mRNA. 219 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1) 26 GBM - Glioblastoma multiforme(134;0.134) TGACAGCTACCCACAGGTATG 0.358000 96 7 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72830293 72830293 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:72830293G>A uc002fck.3 - 8 6961 c.6288C>T c.(6286-6288)atC>atT p.I2096I ZFHX3_uc002fcl.3_Silent_p.I1182I NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 2096 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GCGGCGAGAAGATGGGCAGCT 0.662000 106 11 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100679686 100679686 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:100679686C>T uc003uxp.1 + 2 5042 c.4989C>T c.(4987-4989)atC>atT p.I1663I MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 1663 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTCCTGTGATCACTTCTACTG 0.473000 483 38 0 0 1 0 0 RPL24 6152 broad.mit.edu 37 3 101399994 101399994 + Silent SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:101399994A>T uc003dvh.1 - 5 502 c.459T>A c.(457-459)gtT>gtA p.V153V NM_000986 NP_000977 P83731 RL24_HUMAN Homo sapiens ribosomal protein L24 (RPL24), mRNA. 153 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|protein binding|structural constituent of ribosome p.R152R(1) large_intestine(1)|lung(2)|urinary_tract(1) 4 GTTTTCCACCAACTCGGGGAG 0.368000 164 11 0 0 1 0 0 ROPN1 54763 broad.mit.edu 37 3 123699272 123699272 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:123699272C>T uc003eha.3 - 2 398 c.57G>A c.(55-57)aaG>aaA p.K19K ROPN1_uc003ehb.2_Non-coding_Transcript|ROPN1_uc003ehc.2_Non-coding_Transcript NM_017578 NP_060048 Q9HAT0 ROP1A_HUMAN Homo sapiens rhophilin associated tail protein 1 (ROPN1), mRNA. 19 RIIa. signal transduction cAMP-dependent protein kinase regulator activity lung(2)|ovary(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.148) TGGCAAACTCCTTCAGCATCT 0.552000 118 19 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36899249 36899249 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:36899249C>T uc003cgj.3 - 11 2080 c.1832G>A c.(1831-1833)aGg>aAg p.R611K NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 611 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CTGCCGGCTCCTCCTCCTGTT 0.542000 117 8 0 0 1 0 0 NECAP2 55707 broad.mit.edu 37 1 16774457 16774457 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:16774457G>A uc001ayq.3 + 2 376 c.286G>A c.(286-288)Gaa>Aaa p.E96K NECAP2_uc001ayo.3_Missense_Mutation_p.E96K|NECAP2_uc010ocd.2_Missense_Mutation_p.E70K NM_001145277 NP_001138749 Q9NVZ3 NECP2_HUMAN Homo sapiens NECAP endocytosis associated 2 (NECAP2), transcript variant 2, mRNA. 96 endocytosis|protein transport clathrin vesicle coat|coated pit|plasma membrane p.E96K(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649) GATCCGCATCGAAGATGGAAA 0.552000 69 12 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69969857 69969857 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:69969857C>T uc002exu.1 + 18 2033 c.1944C>T c.(1942-1944)gaC>gaT p.D648D WWP2_uc002exv.1_Silent_p.D648D|WWP2_uc010vlm.1_Silent_p.D532D|WWP2_uc010vln.1_Silent_p.D266D|WWP2_uc002exw.1_Silent_p.D209D NM_007014 NP_008945 O00308 WWP2_HUMAN Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA. 648 HECT. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGTCCATTGACCCTGAGTTCT 0.547000 141 11 0 0 1 0 0 SLC22A16 85413 broad.mit.edu 37 6 110759998 110759998 + Silent SNP G A A rs138030296 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:110759998G>A uc003puf.3 - 4 1303 c.1236C>T c.(1234-1236)gtC>gtT p.V412V SLC22A16_uc003pue.3_Silent_p.V393V NM_033125 NP_149116 Q86VW1 S22AG_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA. 412 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) TTCTCCTCCCGACCTTGTCCA 0.507000 75 10 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48617232 48617232 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:48617232C>T uc003ctz.2 - 56 5141 c.5140G>A c.(5140-5142)Gga>Aga p.G1714R COL7A1_uc021wxp.1_5'Flank NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 1714 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TCTCTGGCTCCAGGTCCTGTG 0.582000 113 19 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538399 27538399 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:27538399C>T uc001its.2 - 0 2837 c.994G>A c.(994-996)Gat>Aat p.D332N Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA. AGCCCCAAATCCAAAGGTTGA 0.507000 279 32 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122646767 122646767 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:122646767G>A uc003efz.1 - 7 1024 c.720C>T c.(718-720)gtC>gtT p.V240V SEMA5B_uc011bju.1_Silent_p.V182V|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.V240V|SEMA5B_uc010hro.1_Silent_p.V182V|SEMA5B_uc010hrp.1_Non-coding_Transcript NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA. 240 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GGGAGGAGATGACAGCTGTGG 0.627000 96 6 0 0 1 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139334 142139334 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142139334C>T uc003vyt.3 - 1 336 c.291G>A c.(289-291)acG>acA p.T97T TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; TGCGCTGGATCGTCAGAGTGG 0.542000 161 34 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1562737 1562737 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:1562737G>A uc002fte.3 - 31 5166 c.5052C>T c.(5050-5052)ttC>ttT p.F1684F NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA. 1684 Involved in interaction with pre-mRNA 5' splice site. U5 snRNP|catalytic step 2 spliceosome|nuclear speck RNA binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TGTAGTCCAGGAACTTGGCCC 0.547000 246 25 0 0 1 0 0 BHLHE40 8553 broad.mit.edu 37 3 5025282 5025282 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:5025282C>T uc003bqf.3 + 4 1451 c.1144C>T c.(1144-1146)Cct>Tct p.P382S BHLHE40_uc011asw.2_Missense_Mutation_p.P242S NM_003670 NP_003661 O14503 BHE40_HUMAN Homo sapiens basic helix-loop-helix family, member e40 (BHLHE40), mRNA. 382 Golgi apparatus|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.L381L(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2) 12 CCAGAGACTCCCTTCTCCCTT 0.547000 160 13 0 0 1 0 0 TRPV3 162514 broad.mit.edu 37 17 3447899 3447899 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:3447899C>T uc002fvr.2 - 3 607 c.285G>A c.(283-285)gaG>gaA p.E95E TRPV3_uc010vrh.1_Silent_p.E79E|TRPV3_uc010vri.1_Intron|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Silent_p.E95E|TRPV3_uc010vrj.1_Silent_p.E79E|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Silent_p.E79E|TRPV3_uc002fvu.3_Silent_p.E95E NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA. 95 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) TGGATGGGGTCTCTGTCACAT 0.602000 37 9 0 0 1 0 0 RBM19 9904 broad.mit.edu 37 12 114383675 114383675 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:114383675G>A uc009zwi.2 - 12 1728 c.1584C>T c.(1582-1584)atC>atT p.I528I RBM19_uc001tvn.4_Silent_p.I528I|RBM19_uc001tvm.3_Silent_p.I528I NM_001146699 NP_057280 Q9Y4C8 RBM19_HUMAN Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA. 528 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm RNA binding|nucleotide binding p.A527V(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) ACTTCTGTGCGATGGCATCGG 0.552000 50 4 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29637977 29637977 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:29637977C>T uc001bru.3 + 20 3026 c.2897C>T c.(2896-2898)cCt>cTt p.P966L PTPRU_uc009vtq.3_Missense_Mutation_p.P962L|PTPRU_uc009vtr.3_Missense_Mutation_p.P956L|PTPRU_uc001brw.3_Missense_Mutation_p.P956L NM_005704 NP_005695 Q92729 PTPRU_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA. 966 Tyrosine-protein phosphatase 1. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GGGCCGAAGCCTGAGATGGTC 0.617000 117 9 0 0 1 0 0 SGK2 10110 broad.mit.edu 37 20 42199308 42199308 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:42199308T>C uc002xkv.3 + 5 811 c.592T>C c.(592-594)Ttc>Ctc p.F198L SGK2_uc002xkr.3_Missense_Mutation_p.F138L|SGK2_uc010ggm.3_Missense_Mutation_p.F138L|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Missense_Mutation_p.F138L NM_016276 NP_733794 Q9HBY8 SGK2_HUMAN Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA. 198 Protein kinase. intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CCGGGCCAGGTTCTACGCTGC 0.627000 113 8 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61306984 61306984 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:61306984C>T uc002ljf.3 - 5 582 c.496G>A c.(496-498)Ggg>Agg p.G166R SERPINB3_uc002lje.3_Missense_Mutation_p.G166R|SERPINB3_uc002ljg.3_Intron NM_002974 NP_002965 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA. 166 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 CCAATAGTCCCATCAGGAAAT 0.348000 50 5 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80419547 80419547 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:80419547C>T uc003kha.2 + 15 2607 c.2557C>T c.(2557-2559)Ccc>Tcc p.P853S RASGRF2_uc011ctn.2_Non-coding_Transcript NM_006909 NP_008840 O14827 RGRF2_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA. 853 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane Rho guanyl-nucleotide exchange factor activity|protein binding biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TTGCAGATCCCCCTCAACTCC 0.527000 65 4 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158624467 158624467 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:158624467G>A uc001fst.1 - 20 3169 c.2970C>T c.(2968-2970)gcC>gcT p.A990A NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 990 SH3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GGGGGCTGCGGGCCTGGAAGT 0.468000 58 4 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231187 7231187 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:7231187G>A uc010wzk.2 + 0 51 c.51G>A c.(49-51)agG>agA p.R17R NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA. 17 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GCCCCAAGAGGATGCTGTTCA 0.632000 63 7 0 0 1 0 0 HAVCR1 26762 broad.mit.edu 37 5 156479455 156479455 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:156479455G>A uc010jij.1 - 3 775 c.590C>T c.(589-591)cCa>cTa p.P197L HAVCR1_uc011ddl.1_Missense_Mutation_p.P28L|HAVCR1_uc003lwi.2_Missense_Mutation_p.P197L|HAVCR1_uc021ygj.1_Missense_Mutation_p.P197L|HAVCR1_uc021ygk.1_Missense_Mutation_p.P28L|HAVCR1_uc011ddm.2_Missense_Mutation_p.P197L NM_001099414 NP_036338 Q96D42 HAVR1_HUMAN Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA. 192 11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich. interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGTTGTTGTTGGAATGCTCGT 0.453000 354 16 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104060088 104060088 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:104060088C>T uc001tjw.3 + 18 2228 c.2042C>T c.(2041-2043)tCt>tTt p.S681F NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 681 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.S681F(2) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GTGAGCTGTTCTCTGGTGTAC 0.562000 113 6 0 0 1 0 0 RHPN2 85415 broad.mit.edu 37 19 33503559 33503559 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:33503559C>T uc002nuf.3 - 4 528 c.462G>A c.(460-462)ctG>ctA p.L154L RHPN2_uc010xro.2_Silent_p.L3L|RHPN2_uc002nue.3_5'UTR NM_033103 NP_149094 Q8IUC4 RHPN2_HUMAN Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA. 154 BRO1. signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) TTACTTGTCTCAGATCCATAA 0.408000 83 5 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103300777 103300777 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:103300777C>T uc002tca.3 + 4 1549 c.1407C>T c.(1405-1407)ttC>ttT p.F469F NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA. 469 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TTGTCATATTCTTTACTGTCT 0.403000 159 15 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100679189 100679189 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:100679189C>T uc003uxp.1 + 2 4545 c.4492C>T c.(4492-4494)Cct>Tct p.P1498S MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 1498 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.T1497I(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ATCTCCTACACCTGCTGAAGG 0.493000 336 15 0 0 1 0 0 FUCA1 2517 broad.mit.edu 37 1 24180929 24180929 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:24180929G>A uc001bie.3 - 4 973 c.890C>T c.(889-891)aCc>aTc p.T297I FUCA1_uc009vqt.2_Non-coding_Transcript NM_000147 NP_000138 P04066 FUCO_HUMAN Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA. 297 fucose metabolic process|glycosaminoglycan catabolic process lysosome alpha-L-fucosidase activity|cation binding breast(1)|endometrium(1)|large_intestine(3)|lung(3) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144) GTCAATGCTGGTGCACATCTC 0.448000 217 36 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140401429 140401429 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:140401429C>T uc003eto.2 + 1 673 c.467C>T c.(466-468)tCa>tTa p.S156L NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN Homo sapiens tripartite motif containing 42 (TRIM42), mRNA. 156 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CGCCTGCACTCATTCATGCTG 0.577000 130 10 0 0 1 0 0 AMBN 258 broad.mit.edu 37 4 71472088 71472088 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:71472088C>T uc003hfl.3 + 12 1086 c.985C>T c.(985-987)Ccg>Tcg p.P329S NM_016519 NP_057603 Q9NP70 AMBN_HUMAN Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA. 329 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel p.P329L(1) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) CTCCCCTATGCCGGAGGCCAA 0.567000 16 3 0 0 1 0 0 SLC13A1 6561 broad.mit.edu 37 7 122765624 122765624 + Splice_Site SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:122765624A>G uc003vkm.3 - 11 1265 c.1240_splice c.e11+1 p.V414_splice SLC13A1_uc010lks.3_Splice_Site_p.V290_splice NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA. 414 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) ATACTCAACCAATTTCTCCTG 0.358000 67 17 0 0 1 0 0 CLCN6 1185 broad.mit.edu 37 1 11897070 11897070 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:11897070C>T uc001ate.4 + 18 2108 c.1995C>T c.(1993-1995)ctC>ctT p.L665L CLCN6_uc010oat.2_Silent_p.L381L|CLCN6_uc010oau.2_Silent_p.L643L NM_001286 NP_001277 P51797 CLCN6_HUMAN Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA. 665 cell volume homeostasis|signal transduction endosome membrane|integral to membrane ATP binding|antiporter activity|voltage-gated chloride channel activity p.L665I(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) CCAGCATCCTCACCCGGGCTG 0.582000 92 11 0 0 1 0 0 ZNF215 7762 broad.mit.edu 37 11 6953791 6953791 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:6953791C>T uc001mey.3 + 2 876 c.288C>T c.(286-288)ttC>ttT p.F96F ZNF215_uc010raw.2_Silent_p.F96F|ZNF215_uc010rax.2_5'UTR|ZNF215_uc001mez.1_Silent_p.F96F NM_013250 NP_037382 Q9UL58 ZN215_HUMAN Homo sapiens zinc finger protein 215 (ZNF215), mRNA. 96 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) TGGAACAATTCCTGGCAATCC 0.438000 67 5 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189852823 189852823 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:189852823C>T uc002uqj.1 + 5 662 c.545C>T c.(544-546)cCc>cTc p.P182L NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 182 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.P182L(2) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCAGGCCCTCCCGGTCCCCCT 0.398000 57 7 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43222808 43222808 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:43222808C>T uc003ouq.1 + 6 877 c.598C>T c.(598-600)Cga>Tga p.R200* NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA. 200 Protein kinase. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GGCCGGGTTTCGAGGAACGGT 0.607000 115 11 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103059717 103059717 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:103059717C>T uc002tbx.3 + 7 1338 c.854C>T c.(853-855)cCt>cTt p.P285L IL18RAP_uc010fiz.3_Missense_Mutation_p.P143L NM_003853 NP_003844 O95256 I18RA_HUMAN Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA. 285 Ig-like C2-type 2. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity p.N284S(1) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 GTCTTTAACCCTGTCATAAAA 0.418000 55 3 0 0 1 0 0 SNX11 29916 broad.mit.edu 37 17 46196496 46196496 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:46196496C>T uc002inf.1 + 6 841 c.487C>T c.(487-489)Cag>Tag p.Q163* SNX11_uc010wlg.1_Nonsense_Mutation_p.Q155*|SNX11_uc002ing.1_Nonsense_Mutation_p.Q163*|SNX11_uc010wlh.1_Nonsense_Mutation_p.Q155*|SNX11_uc010wli.1_Nonsense_Mutation_p.Q102*|SNX11_uc010wlj.1_Nonsense_Mutation_p.Q19*|SNX11_uc002inh.1_Nonsense_Mutation_p.Q163* NM_152244 NP_689450 Q9Y5W9 SNX11_HUMAN Homo sapiens sorting nexin 11 (SNX11), transcript variant 1, mRNA. 163 cell communication|protein transport membrane phosphatidylinositol binding breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 14 TGGCTGGGCCCAGGAAGAGAG 0.522000 109 8 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32712438 32712438 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:32712438G>A uc003jhv.3 + 0 1001 c.556G>A c.(556-558)Gag>Aag p.E186K NPR3_uc010iuo.3_Intron|NPR3_uc003jhw.2_Intron|NPR3_uc003jhu.3_Missense_Mutation_p.E186K NM_001204375 NP_001191304 P17342 ANPRC_HUMAN Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA. 186 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) CAAGATGGGCGAGATGATGCT 0.667000 47 5 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54805279 54805279 + Missense_Mutation SNP C T T rs115872183 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:54805279C>T uc003pck.3 + 4 1626 c.1510C>T c.(1510-1512)Cat>Tat p.H504Y NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 504 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) CTTAAATGATCATTCAGAAGC 0.408000 73 5 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37029326 37029326 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:37029326G>A uc004ddl.2 + 0 2895 c.2843G>A c.(2842-2844)gGg>gAg p.G948E NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 948 p.G948W(2) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCTAAGTTGGGGAAAAAGCTA 0.458000 73 19 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25701206 25701206 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:25701206G>A uc001isj.3 + 3 1199 c.1139G>A c.(1138-1140)gGa>gAa p.G380E NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 380 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CATATTTCAGGAAGTACAAAA 0.468000 123 13 0 0 1 0 0 TREML2 79865 broad.mit.edu 37 6 41160570 41160570 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:41160570G>A uc010jxm.1 - 3 1034 c.855C>T c.(853-855)gtC>gtT p.V285V NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA. 285 V -> I (in dbSNP:rs35521209). T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) AAAACCCATAGACCATGATCA 0.557000 80 6 0 0 1 0 0 PDZD8 118987 broad.mit.edu 37 10 119044645 119044645 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:119044645G>A uc001lde.1 - 4 1798 c.1599C>T c.(1597-1599)ccC>ccT p.P533P NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN Homo sapiens PDZ domain containing 8 (PDZD8), mRNA. 533 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) TAGCTCCAAGGGGTTTAATAG 0.413000 144 15 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31283422 31283422 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:31283422G>A uc003aiy.1 + 3 1221 c.1117G>A c.(1117-1119)Gac>Aac p.D373N OSBP2_uc011ala.1_Missense_Mutation_p.D208N|OSBP2_uc010gwc.1_Missense_Mutation_p.D200N|OSBP2_uc011alb.1_Missense_Mutation_p.D373N|OSBP2_uc003aiz.1_Missense_Mutation_p.D373N|OSBP2_uc003aja.1_Missense_Mutation_p.D7N|OSBP2_uc011alc.2_Missense_Mutation_p.D115N|OSBP2_uc011ald.1_5'UTR|OSBP2_uc010gwd.1_5'UTR NM_030758 NP_110385 Q969R2 OSBP2_HUMAN Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA. 373 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 GGCCTGCAGGGACTTCTTGGA 0.582000 148 15 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49236546 49236546 + Silent SNP G A A rs112022991 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:49236546G>A uc010zyt.2 - 2 497 c.246C>T c.(244-246)ttC>ttT p.F82F FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Silent_p.F78F|FAM65C_uc002xvn.1_Silent_p.F78F NM_080829 NP_543019 Q96MK2 FA65C_HUMAN Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA. 78 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TCAATGCTTCGAAGATCTTCT 0.552000 89 12 0 0 1 0 0 C9orf171 389799 broad.mit.edu 37 9 135374955 135374955 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:135374955C>T uc004cbn.3 + 3 648 c.600C>T c.(598-600)ctC>ctT p.L200L C9orf171_uc004cbo.3_Silent_p.L164L NM_207417 NP_997300 Q6ZQR2 CI171_HUMAN Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA. 200 large_intestine(7)|lung(9)|ovary(4)|prostate(3) 23 CGCCCCCTCTCCCTCCAAACA 0.597000 91 29 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183652216 183652216 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:183652216C>T uc003ivd.1 + 14 2966 c.2891C>T c.(2890-2892)cCc>cTc p.P964L ODZ3_uc003ive.1_Missense_Mutation_p.P370L NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 964 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AGGCCAAATCCCATCATTGTG 0.418000 33 6 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45821663 45821663 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:45821663C>T uc010gpt.1 + 15 2521 c.2421C>T c.(2419-2421)ttC>ttT p.F807F TRPM2_uc002zet.1_Silent_p.F807F|TRPM2_uc002zeu.1_Silent_p.F807F|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.F807F|TRPM2_uc002zex.1_Silent_p.F593F|TRPM2_uc002zey.1_Silent_p.F320F NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 807 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity p.F807F(2) breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TCTCCTACTTCGCCTTCCTCT 0.632000 466 44 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769183 247769183 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:247769183C>T uc010pyz.2 + 0 296 c.296C>T c.(295-297)gCg>gTg p.A99V NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA. 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A99G(2)|p.A99A(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.017) GGTTGTGTGGCGCAACTCTAT 0.483000 195 22 0 0 1 0 0 TMCO7 79613 broad.mit.edu 37 16 68961601 68961601 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:68961601C>T uc002ewi.4 + 12 2270 c.2258C>T c.(2257-2259)gCc>gTc p.A753V NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA. 753 integral to membrane binding endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2) 20 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) ACCCATGGAGCCTTTGCCACT 0.493000 187 17 0 0 1 0 0 GFM1 85476 broad.mit.edu 37 3 158371243 158371243 + Missense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:158371243C>A uc003fce.3 + 6 1092 c.985C>A c.(985-987)Ctc>Atc p.L329I GFM1_uc003fcd.3_Missense_Mutation_p.L329I|GFM1_uc003fcg.3_Missense_Mutation_p.L260I NM_024996 NP_079272 Q96RP9 EFGM_HUMAN Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA. 329 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2) 22 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) CTATGCTATTCTCAATAAAGA 0.343000 42 6 2.0095e-06 2.02596e-06 1 1 0 ZNF485 220992 broad.mit.edu 37 10 44112510 44112510 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:44112510C>T uc010qfc.2 + 4 1213 c.1019C>T c.(1018-1020)tCc>tTc p.S340F ZNF485_uc010qfd.2_Missense_Mutation_p.S249F NM_145312 NP_660355 Q8NCK3 ZN485_HUMAN Homo sapiens zinc finger protein 485 (ZNF485), mRNA. 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 TATAGCTCATCCTTTGCTGGT 0.428000 127 12 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10356242 10356242 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:10356242C>T uc002gmn.3 - 24 3230 c.3119G>A c.(3118-3120)gGa>gAa p.G1040E AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1040 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTCCAGAGATCCTTCAAGCTA 0.353000 75 7 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525476 176525476 + Silent SNP C T T rs148899801 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:176525476C>T uc001gkz.3 + 1 1182 c.18C>T c.(16-18)atC>atT p.I6I PAPPA2_uc001gky.1_Silent_p.I6I|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 6 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.I6I(2) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCTTAAAGATCCTAAGAATAA 0.517000 119 11 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126139151 126139151 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:126139151C>T uc001uhe.1 + 8 3140 c.3132C>T c.(3130-3132)atC>atT p.I1044I TMEM132B_uc001uhf.1_Silent_p.I556I NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 1044 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CCAACTCCATCCTGTTTGACA 0.498000 92 8 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3306472 3306472 + Missense_Mutation SNP C G G rs141288548 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:3306472C>G uc002cun.1 - 0 156 c.116G>C c.(115-117)aGg>aCg p.R39T MEFV_uc021tbw.1_Missense_Mutation_p.R39T|MEFV_uc021tbx.1_5'UTR|MEFV_uc021tby.1_5'UTR|MEFV_uc021tbz.1_5'UTR|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_5'UTR NM_000243 NP_000234 O15553 MEFV_HUMAN Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. 39 DAPIN. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CCGGGGGATCCTGGAGTGCTC 0.587000 132 8 0 0 1 0 0 HAND1 9421 broad.mit.edu 37 5 153857387 153857387 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:153857387G>A uc003lvn.3 - 0 438 c.182C>T c.(181-183)cCg>cTg p.P61L NM_004821 NP_004812 O96004 HAND1_HUMAN Homo sapiens heart and neural crest derivatives expressed 1 (HAND1), mRNA. 61 angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis cytoplasm|nucleolus|nucleoplasm DNA binding|bHLH transcription factor binding|protein homodimerization activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) cgcgggcggcggcccgcccgc 0.751000 12 3 0 0 1 0 0 OR1J4 26219 broad.mit.edu 37 9 125281455 125281455 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:125281455C>T uc011lyw.2 + 0 36 c.36C>T c.(34-36)ttC>ttT p.F12F NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA. 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 TGTCTGAGTTCCTCCTCCTGG 0.512000 146 27 0 0 1 0 0 RBP1 5947 broad.mit.edu 37 3 139236477 139236477 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:139236477C>T uc003eti.2 - 3 697 c.586G>A c.(586-588)Gtg>Atg p.V196M NM_002899 NP_002890 P09455 RET1_HUMAN Homo sapiens retinol binding protein 1, cellular (RBP1), transcript variant 1, mRNA. 134 cytoplasm retinal binding|retinol binding|transporter activity endometrium(1)|large_intestine(2)|lung(1)|prostate(1) 5 Vitamin A(DB00162) CCTCACTGCACCTTCTTGAAT 0.522000 181 22 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15794318 15794318 + Nonsense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:15794318T>A uc002nbl.3 + 6 782 c.663T>A c.(661-663)taT>taA p.Y221* NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. p.E220*(1) NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CCAGTGAATATATTGCCACCA 0.542000 101 8 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24772027 24772027 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:24772027G>A uc003xed.4 + 0 754 c.721G>A c.(721-723)Gag>Aag p.E241K NEFM_uc011lac.1_Missense_Mutation_p.E241K|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_Missense_Mutation_p.S14F NM_005382 NP_005373 P07197 NFM_HUMAN Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA. 241 Coil 1B.|Rod. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CCACGAGGAGGAGGTGGCCGA 0.602000 52 5 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22051673 22051673 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:22051673T>A uc003xbg.3 + 9 1549 c.1283T>A c.(1282-1284)tTt>tAt p.F428Y BMP1_uc003xbf.3_Missense_Mutation_p.F177Y|BMP1_uc003xbb.3_Missense_Mutation_p.F428Y|BMP1_uc003xbc.3_Missense_Mutation_p.F177Y|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Missense_Mutation_p.F177Y|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript NM_006129 NP_006120 P13497 BMP1_HUMAN Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA. 428 CUB 1. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) AAGGGCTTCTTTGCAGTCTAC 0.587000 86 4 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38797432 38797432 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:38797432C>T uc003ciq.3 - 9 1308 c.1308G>A c.(1306-1308)ggG>ggA p.G436G NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 436 sensory perception voltage-gated sodium channel complex p.G436W(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TTGTGTCAATCCCTAGTGCTG 0.498000 76 5 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1616848 1616848 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:1616848G>A uc002wfm.1 - 2 799 c.734C>T c.(733-735)tCt>tTt p.S245F SIRPG_uc002wfn.1_Missense_Mutation_p.S245F|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA. 245 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 GATGGCCTCAGACAAGTTGGC 0.627000 66 7 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50952707 50952707 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:50952707G>A uc009xog.3 - 11 1836 c.1802C>T c.(1801-1803)tCc>tTc p.S601F OGDHL_uc001jie.3_Missense_Mutation_p.S574F|OGDHL_uc010qgt.2_Missense_Mutation_p.S517F|OGDHL_uc010qgu.2_Missense_Mutation_p.S365F|OGDHL_uc009xoh.2_Missense_Mutation_p.S365F NM_001143997 NP_001137469 Q9ULD0 OGDHL_HUMAN Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 574 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 AGGCCAGGGGGAGTCCAACCA 0.547000 99 10 0 0 1 0 0 TRPC1 7220 broad.mit.edu 37 3 142509896 142509896 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:142509896G>A uc003evc.3 + 7 1469 c.1333G>A c.(1333-1335)Gaa>Aaa p.E445K TRPC1_uc003evb.3_Missense_Mutation_p.E411K|TRPC1_uc011bni.1_Missense_Mutation_p.E12K NM_001251845 NP_001238774 P48995 TRPC1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA. 445 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 ACTCTGGTATGAAGGGTTGGA 0.328000 31 4 0 0 1 0 0 CYP2F1 1572 broad.mit.edu 37 19 41626275 41626275 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:41626275C>T uc002opu.1 + 3 414 c.358C>T c.(358-360)Cga>Tga p.R120* CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Nonsense_Mutation_p.R120*|CYP2F1_uc002opv.1_Non-coding_Transcript NM_000774 NP_000765 P24903 CP2F1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA. 120 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.R120*(2) central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 CAGTGGGGATCGATGGAAGGT 0.562000 113 5 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584459 82584459 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:82584459C>T uc003uhx.2 - 4 6099 c.5810G>A c.(5809-5811)cGa>cAa p.R1937Q PCLO_uc003uhv.2_Missense_Mutation_p.R1937Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1868 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CACTTCATCTCGTTCATTTGC 0.363000 24 8 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57768962 57768962 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:57768962G>A uc002yan.3 + 0 2888 c.2888G>A c.(2887-2889)aGc>aAc p.S963N NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 963 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CCAAGGCACAGCCAGGACTCT 0.607000 207 18 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115997280 115997280 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:115997280G>A uc003ibu.3 - 1 1592 c.913C>T c.(913-915)Ctt>Ttt p.L305F NDST4_uc010imw.3_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 305 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.L305F(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATGTCCACAAGGATGTACCTG 0.403000 88 8 0 0 1 0 0 CEP104 9731 broad.mit.edu 37 1 3753954 3753954 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:3753954G>A uc001aky.2 - 8 1380 c.1021C>T c.(1021-1023)Ctt>Ttt p.L341F CEP104_uc010nzm.1_Non-coding_Transcript|CEP104_uc001akz.3_Missense_Mutation_p.L341F NM_014704 NP_055519 O60308 CE104_HUMAN Homo sapiens centrosomal protein 104kDa (CEP104), mRNA. 341 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 TTTTCCTGAAGGAAAGGTTCT 0.478000 44 7 0 0 1 0 0 WDR65 149465 broad.mit.edu 37 1 43649366 43649366 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:43649366G>A uc021omk.1 + 3 725 c.579G>A c.(577-579)caG>caA p.Q193Q EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Silent_p.Q182Q|WDR65_uc001ciq.2_Silent_p.Q193Q|WDR65_uc001cip.2_Silent_p.Q193Q NM_001195831 NP_001182760 Q96MR6 WDR65_HUMAN Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA. 193 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCAGCTTTCAGAGGGGAGAAC 0.493000 90 9 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197032120 197032120 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:197032120G>A uc001gtt.1 - 1 176 c.132C>T c.(130-132)agC>agT p.S44S NM_001994 NP_001985 P05160 F13B_HUMAN Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA. 44 Sushi 1. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 GAAAGTAAAAGCTTTTAAAAG 0.358000 88 13 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196874238 196874238 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:196874238G>A uc001gtp.3 + 3 394 c.257_splice c.e3-1 p.R86_splice CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Splice_Site_p.R85_splice|CFH_uc001gto.3_Intron NM_001201550 NP_001188479 P08603 CFAH_HUMAN Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA. 446 Sushi 2. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TCTATTTTAGGAACATGCTCA 0.264000 12 3 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135429843 135429843 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:135429843A>G uc004ezu.1 + 5 4269 c.3978A>G c.(3976-3978)ggA>ggG p.G1326G GPR112_uc010nsb.1_Silent_p.G1121G|GPR112_uc010nsc.1_Silent_p.G1093G NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 1326 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.G1326R(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CCTCTGATGGAAATTTGGCTT 0.443000 40 3 0 0 1 0 0 KRT12 3859 broad.mit.edu 37 17 39018824 39018824 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:39018824G>A uc002hvk.2 - 6 1404 c.1380C>T c.(1378-1380)tcC>tcT p.S460S NM_000223 NP_000214 Q99456 K1C12_HUMAN Homo sapiens keratin 12 (KRT12), mRNA. 460 Tail. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) TACCTTTAGAGGAATCAGTTG 0.358000 159 14 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2413173 2413173 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:2413173C>T uc002wfy.1 + 12 2066 c.2005C>T c.(2005-2007)Cag>Tag p.Q669* TGM6_uc010gal.1_Missense_Mutation_p.P624L NM_198994 NP_945345 O95932 TGM3L_HUMAN Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA. 669 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) GGCCTCAGTCCAGTTTGACAT 0.587000 92 7 0 0 1 0 0 PATE2 399967 broad.mit.edu 37 11 125647862 125647862 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:125647862G>A uc001qcu.3 - 2 158 c.112C>T c.(112-114)Cat>Tat p.H38Y PATE2_uc010sbj.2_Intron NM_212555 NP_997720 Q6UY27 PATE2_HUMAN Homo sapiens prostate and testis expressed 2 (PATE2), mRNA. 38 extracellular space endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1) 6 AACCCAAGATGATATTTTTTA 0.418000 44 7 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174734 51174734 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:51174734G>A uc021tif.1 - 1 1430 c.1108C>T c.(1108-1110)Cac>Tac p.H370Y SALL1_uc021tid.1_Missense_Mutation_p.H370Y|SALL1_uc021tie.1_Missense_Mutation_p.H467Y|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 467 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GAACGCAAGTGGATCTGCAAG 0.517000 128 19 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23236934 23236934 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:23236934C>T uc009vqj.1 + 13 2707 c.2562C>T c.(2560-2562)gcC>gcT p.A854A EPHB2_uc001bge.3_Silent_p.A855A|EPHB2_uc001bgf.3_Silent_p.A854A|EPHB2_uc010odu.2_Silent_p.A796A NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 854 Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity p.A854T(1) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GCCCGAGCGCCCTGCACCAAC 0.587000 175 17 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41594960 41594960 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:41594960G>A uc002opt.3 + 1 316 c.307G>A c.(307-309)Gag>Aag p.E103K NM_000766 NP_000757 Q16696 CP2AD_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA. 103 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding p.E103*(2) breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) CGGGCGAGGCGAGCAGGCCAC 0.652000 51 8 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107746315 107746315 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:107746315C>T uc010ljo.1 - 7 901 c.817G>A c.(817-819)Gaa>Aaa p.E273K LAMB4_uc003vey.2_Missense_Mutation_p.E273K NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 273 Laminin EGF-like 1. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GGGCGACATTCGCTAGCATGG 0.468000 140 9 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35857113 35857113 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:35857113T>A uc003jjs.3 + 0 123 c.34T>A c.(34-36)Ttt>Att p.F12I IL7R_uc011coo.2_Missense_Mutation_p.F12I|IL7R_uc011cop.2_Non-coding_Transcript NM_002185 NP_002176 P16871 IL7RA_HUMAN Homo sapiens interleukin 7 receptor (IL7R), mRNA. 12 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TGGCATGGTTTTTTCTTTACT 0.373000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 93 12 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111746259 111746259 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:111746259T>C uc001tsa.2 + 13 1341 c.1187T>C c.(1186-1188)cTt>cCt p.L396P NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 396 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GACTCACTGCTTATTGCAAAG 0.617000 30 6 0 0 1 0 0 REEP2 51308 broad.mit.edu 37 5 137780107 137780107 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:137780107C>T uc003lda.3 + 3 308 c.186C>T c.(184-186)ttC>ttT p.F62F REEP2_uc003lcz.3_Silent_p.F62F|REEP2_uc011cyt.2_Silent_p.F23F NM_016606 NP_057690 Q9BRK0 REEP2_HUMAN Homo sapiens receptor accessory protein 2 (REEP2), mRNA. 62 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CCAACAGGTTCCCCTTCTACT 0.612000 122 7 0 0 1 0 0 ARL16 339231 broad.mit.edu 37 17 79650840 79650840 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:79650840C>T uc002kbf.3 - 0 115 c.16G>A c.(16-18)Ggg>Agg p.G6R ARL16_uc021ufd.1_5'Flank|HGS_uc010wus.2_5'Flank|HGS_uc002kbg.3_5'Flank NM_001040025 NP_001035114 Q0P5N6 ARL16_HUMAN Homo sapiens ADP-ribosylation factor-like 16 (ARL16), mRNA. 6 GTP binding p.G6R(2) central_nervous_system(1)|endometrium(1)|lung(4)|skin(1) 7 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) AAGGCCCGCCCACCGGCCACT 0.637000 19 3 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34038272 34038272 + Missense_Mutation SNP C T T rs142478967 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:34038272C>T uc002yqh.2 - 16 2243 c.2243G>A c.(2242-2244)cGa>cAa p.R748Q SYNJ1_uc011ads.1_Missense_Mutation_p.R704Q|SYNJ1_uc002yqf.2_Missense_Mutation_p.R709Q|SYNJ1_uc002yqg.2_Missense_Mutation_p.R704Q|SYNJ1_uc002yqi.2_Missense_Mutation_p.R748Q NM_003895 NP_003886 O43426 SYNJ1_HUMAN Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA. 709 Catalytic (Potential). RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 ACTCAATTTTCGTGCTATTTC 0.363000 41 3 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189068217 189068217 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:189068217G>A uc003izm.1 + 5 1213 c.1098G>A c.(1096-1098)ggG>ggA p.G366G TRIML1_uc003izn.1_Silent_p.G90G NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA. 366 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GCAGAAAGGGGAATCTCCCCA 0.527000 79 6 0 0 1 0 0 PGAP3 93210 broad.mit.edu 37 17 37842191 37842191 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:37842191G>A uc002hsj.3 - 1 306 c.263C>T c.(262-264)cCt>cTt p.P88L ERBB2_uc010cwa.3_5'Flank|ERBB2_uc002hsm.3_5'Flank|PGAP3_uc010cvy.3_5'Flank|PGAP3_uc010wej.2_Missense_Mutation_p.P88L|PGAP3_uc002hsk.3_Missense_Mutation_p.P88L|PGAP3_uc010cvz.3_Missense_Mutation_p.P88L|ERBB2_uc002hsl.3_5'Flank NM_033419 NP_219487 Q96FM1 PGAP3_HUMAN Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA. 88 GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 ATGGAACTGAGGCACTTTGTG 0.532000 98 7 0 0 1 0 0 CCR1 1230 broad.mit.edu 37 3 46245421 46245421 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:46245421C>T uc003cph.1 - 1 455 c.384G>A c.(382-384)acG>acA p.T128T CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.T128T NM_001295 NP_001286 P32246 CCR1_HUMAN Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA. 128 G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity p.T128M(1) autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) ACCTGTCAATCGTCAGCAGGA 0.512000 40 7 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38530721 38530721 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:38530721C>T uc010ive.1 - 1 361 c.29G>A c.(28-30)cGa>cAa p.R10Q LIFR_uc003jli.2_Missense_Mutation_p.R10Q NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 10 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) CCAGGATGGTCGTTTCAAACA 0.388000 T PLAG1 salivary adenoma 98 9 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57325217 57325217 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:57325217G>A uc002qnu.2 - 6 4944 c.4593C>T c.(4591-4593)atC>atT p.I1531I PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.I1502I|PEG3_uc002qnv.2_Silent_p.I1531I|PEG3_uc002qnw.2_Silent_p.I1407I|PEG3_uc002qnx.2_Silent_p.I1405I|PEG3_uc010etr.2_Silent_p.I1531I NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 1531 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GCTCAAATATGATCATGCTGG 0.478000 81 6 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37337863 37337863 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:37337863C>T uc001caz.2 - 3 793 c.658G>A c.(658-660)Gag>Aag p.E220K GRIK3_uc001cba.1_Missense_Mutation_p.E220K NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 220 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CGCTTCATCTCCTTGAGCAAG 0.597000 81 11 0 0 1 0 0 GPR6 2830 broad.mit.edu 37 6 110301234 110301234 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:110301234C>T uc011eav.2 + 2 1208 c.964C>T c.(964-966)Ccg>Tcg p.P322S GPR6_uc011eaw.2_Missense_Mutation_p.P307S|GPR6_uc003ptu.3_Missense_Mutation_p.P307S|GPR6_uc021zds.1_Missense_Mutation_p.P307S NM_005284 NP_005275 P46095 GPR6_HUMAN Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA. 307 integral to plasma membrane breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) CCATGAGGACCCGGCGGTCTA 0.617000 80 10 0 0 1 0 0 KCNS2 3788 broad.mit.edu 37 8 99441223 99441223 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:99441223G>A uc003yin.3 + 1 1366 c.1016G>A c.(1015-1017)gGg>gAg p.G339E KCNS2_uc022azb.1_Missense_Mutation_p.G339E NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA. 339 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) CTCTCCGTGGGGATTTCCATC 0.577000 64 8 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8507350 8507350 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:8507350G>A uc003zkk.3 - 21 2371 c.1628C>T c.(1627-1629)aCc>aTc p.T543I PTPRD_uc003zkp.3_Missense_Mutation_p.T543I|PTPRD_uc003zkq.3_Missense_Mutation_p.T543I|PTPRD_uc003zkr.3_Missense_Mutation_p.T537I|PTPRD_uc003zks.3_Missense_Mutation_p.T533I|PTPRD_uc022bdj.1_Missense_Mutation_p.T540I NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 543 Fibronectin type-III 3. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.T543T(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GTTGGCAATGGTATCTGAACG 0.468000 TSP Lung(15;0.13) 147 7 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177133560 177133560 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:177133560C>T uc001glc.3 - 0 465 c.253G>A c.(253-255)Gag>Aag p.E85K ASTN1_uc001glb.1_Missense_Mutation_p.E85K|ASTN1_uc001gld.1_Missense_Mutation_p.E85K|ASTN1_uc009wwx.1_Missense_Mutation_p.E85K NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 85 cell migration|neuron cell-cell adhesion integral to membrane p.E85D(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TCCGTGTTCTCCAGGTCGTCC 0.692000 15 4 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128488720 128488720 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:128488720C>T uc003vnz.4 + 26 4895 c.4686C>T c.(4684-4686)ttC>ttT p.F1562F FLNC_uc003voa.4_Silent_p.F1562F NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1562 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CTGTGGAGTTCACCATCGACG 0.647000 152 10 0 0 1 0 0 CEP290 80184 broad.mit.edu 37 12 88472945 88472945 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:88472945A>T uc001tar.3 - 38 5632 c.5288T>A c.(5287-5289)aTt>aAt p.I1763N CEP290_uc001taq.3_Missense_Mutation_p.I823N NM_025114 NP_079390 O15078 CE290_HUMAN Homo sapiens centrosomal protein 290kDa (CEP290), mRNA. 1763 G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TGCAGAAATAATACGTTCTTC 0.373000 22 5 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7768995 7768995 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:7768995G>A uc001ijs.3 + 9 1229 c.1067G>A c.(1066-1068)cGa>cAa p.R356Q NM_002216 NP_002207 P19823 ITIH2_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA. 356 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CAGAACATTCGAACTTGGAGA 0.403000 91 9 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149129460 149129460 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:149129460G>A uc003wfv.3 - 5 2066 c.1903C>T c.(1903-1905)Ccc>Tcc p.P635S NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN Homo sapiens zinc finger protein 777 (ZNF777), mRNA. 635 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CACTTGTAGGGCTTAGGGCCA 0.662000 327 23 0 0 1 0 0 ZFP112 7771 broad.mit.edu 37 19 44892239 44892239 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:44892239C>T uc010xxa.2 - 3 232 c.189G>A c.(187-189)ttG>ttA p.L63L ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Silent_p.L56L NM_152354 NP_689567 Q9UJU3 ZF112_HUMAN Homo sapiens zinc finger protein 285 (ZNF285), mRNA. 88 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3) 41 CCTGAAGATTCAAAATGTTGT 0.393000 77 5 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77317854 77317854 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:77317854C>T uc002ffc.4 - 22 4084 c.3665G>A c.(3664-3666)tGa>tAa p.*1222* NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 0 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ACACCAAGATCAGATCTTCCT 0.507000 47 4 0 0 1 0 0 DHCR7 1717 broad.mit.edu 37 11 71152365 71152365 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:71152365G>A uc001oqk.3 - 5 784 c.534C>T c.(532-534)atC>atT p.I178I DHCR7_uc001oql.3_Silent_p.I178I NM_001163817 NP_001351 Q9UBM7 DHCR7_HUMAN Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA. 178 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) ACAGCAGTGGGATCCAGTTGT 0.577000 Smith-Lemli-Opitz syndrome 97 14 0 0 1 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97402889 97402889 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:97402889G>A uc001kkz.3 - 2 405 c.163C>T c.(163-165)Cgt>Tgt p.R55C ALDH18A1_uc001kky.3_Missense_Mutation_p.R55C|ALDH18A1_uc010qog.2_Intron|ALDH18A1_uc010qoh.2_Intron NM_002860 NP_002851 P54886 P5CS_HUMAN Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 55 Glutamate 5-kinase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) CCATGTGTACGACTGAGGGGT 0.522000 155 11 0 0 1 0 0 SYNM 23336 broad.mit.edu 37 15 99670258 99670258 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:99670258G>A uc002bup.3 + 4 1810 c.1690G>A c.(1690-1692)Gac>Aac p.D564N SYNM_uc002buo.3_Missense_Mutation_p.D564N|SYNM_uc002buq.3_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA. 565 Tail. K -> N (in Ref. 1; CAC83858/CAC83859). intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 TAAGGAGAAGGACTCACCGAA 0.498000 35 4 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53845298 53845298 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:53845298G>A uc003dgv.4 + 47 6514 c.6351G>A c.(6349-6351)ggG>ggA p.G2117G CACNA1D_uc003dgu.4_Silent_p.G2137G|CACNA1D_uc003dgy.4_Silent_p.G2093G|CACNA1D_uc003dgw.4_Silent_p.G1784G|CACNA1D_uc011bes.2_Non-coding_Transcript NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 2117 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GAGCCAACGGGGATGTGGGCC 0.602000 80 5 0 0 1 0 0 NPY 4852 broad.mit.edu 37 7 24329174 24329174 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:24329174G>A uc003sww.2 + 2 333 c.245G>A c.(244-246)aGc>aAc p.S82N NM_000905 NP_000896 P01303 NPY_HUMAN Homo sapiens neuropeptide Y (NPY), mRNA. 82 G-protein signaling, coupled to cyclic nucleotide second messenger|adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space G-protein coupled receptor activity|calcium channel regulator activity|neuropeptide hormone activity breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 9 ATGAGAGAAAGCACAGAAAAT 0.458000 90 10 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42656116 42656116 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:42656116C>T uc011dur.2 + 44 5314 c.5016C>T c.(5014-5016)atC>atT p.I1672I UBR2_uc011dus.2_Silent_p.I1317I|UBR2_uc003osh.3_Non-coding_Transcript|UBR2_uc011dut.2_Silent_p.I260I|UBR2_uc011duu.2_Silent_p.I64I NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA. 1672 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GAGTGGGCATCTTCCTGAGGT 0.517000 144 18 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12231071 12231071 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:12231071C>T uc001mjz.3 + 5 905 c.617C>T c.(616-618)cCt>cTt p.P206L MICAL2_uc010rch.1_Missense_Mutation_p.P206L|MICAL2_uc001mka.3_Missense_Mutation_p.P206L|MICAL2_uc010rci.2_Missense_Mutation_p.P206L|MICAL2_uc001mkb.3_Missense_Mutation_p.P206L|MICAL2_uc001mkc.3_Missense_Mutation_p.P206L|MICAL2_uc001mkd.3_Missense_Mutation_p.P35L NM_014632 NP_055447 O94851 MICA2_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA. 206 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) GAATTTCTCCCTACAGACCAT 0.517000 173 15 0 0 1 0 0 PARD6A 50855 broad.mit.edu 37 16 67696356 67696356 + Missense_Mutation SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:67696356A>C uc002ett.3 + 2 938 c.847A>C c.(847-849)Agt>Cgt p.S283R ACD_uc002etp.4_5'Flank|ACD_uc002etq.4_5'Flank|ACD_uc002etr.4_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.3_Missense_Mutation_p.S282R NM_016948 NP_058644 Q9NPB6 PAR6A_HUMAN Homo sapiens par-6 partitioning defective 6 homolog alpha (C. elegans) (PARD6A), transcript variant 1, mRNA. 283 cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CGATGACAGCAGTGACCTGGT 0.632000 54 4 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97823155 97823155 + Silent SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:97823155C>A uc003upd.2 + 10 3671 c.3378C>A c.(3376-3378)tcC>tcA p.S1126S NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA. 1126 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.S1126F(1) NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CCTCCCCATCCGCCTTGGTGT 0.607000 86 4 0.217242 0.217463 1 1 0 FANCM 57697 broad.mit.edu 37 14 45618069 45618069 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:45618069A>G uc001wwd.4 + 3 888 c.789A>G c.(787-789)ctA>ctG p.L263L FANCM_uc001wwc.2_Silent_p.L263L|FANCM_uc010anf.3_Silent_p.L237L NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA. 263 Helicase ATP-binding. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 CTAACCTGCTAATTGGGCAGA 0.313000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 57 5 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105139435 105139435 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:105139435C>T uc004emd.3 + 6 802 c.499C>T c.(499-501)Cac>Tac p.H167Y NRK_uc010npc.1_5'UTR NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 167 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GGGCTTAGCTCACCTTCACGC 0.353000 HNSCC(51;0.14) 26 3 0 0 1 0 0 NDRG2 57447 broad.mit.edu 37 14 21490309 21490309 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:21490309C>T uc001vyy.3 - 5 406 c.256G>A c.(256-258)Gag>Aag p.E86K NDRG2_uc010tll.2_Missense_Mutation_p.E82K|NDRG2_uc001vyt.3_5'UTR|NDRG2_uc001vyu.3_Missense_Mutation_p.E72K|NDRG2_uc001vyv.3_Missense_Mutation_p.E72K|NDRG2_uc001vyw.3_Missense_Mutation_p.E72K|NDRG2_uc001vzb.3_Missense_Mutation_p.E26K|NDRG2_uc001vyx.3_Missense_Mutation_p.E86K|NDRG2_uc001vza.3_Missense_Mutation_p.E72K|NDRG2_uc001vyz.3_Missense_Mutation_p.E72K|NDRG2_uc001vzc.3_Missense_Mutation_p.E72K|NDRG2_uc010aig.3_Missense_Mutation_p.E86K|NDRG2_uc001vze.3_Missense_Mutation_p.E86K|NDRG2_uc001vzd.3_Missense_Mutation_p.E86K|NDRG2_uc001vzg.3_Missense_Mutation_p.E72K|NDRG2_uc001vzf.3_Missense_Mutation_p.E72K NM_201540 NP_963834 Q9UN36 NDRG2_HUMAN Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA. 86 cell differentiation|nervous system development Golgi apparatus|centrosome|cytosol|nucleus|perinuclear region of cytoplasm breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 23 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) TGCATGTCCTCGAACTGAAAC 0.493000 85 9 0 0 1 0 0 SLFN11 91607 broad.mit.edu 37 17 33690040 33690040 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:33690040C>T uc002hjg.4 - 1 1034 c.787G>A c.(787-789)Gaa>Aaa p.E263K SLFN11_uc010ctr.3_Missense_Mutation_p.E263K|SLFN11_uc010ctp.3_Missense_Mutation_p.E263K|SLFN11_uc010ctq.3_Missense_Mutation_p.E263K|SLFN11_uc002hjh.4_Missense_Mutation_p.E263K NM_152270 NP_689483 Q7Z7L1 SLN11_HUMAN Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA. 263 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TCAACATTTTCTTTTGCACAT 0.428000 134 15 0 0 1 0 0 EREG 2069 broad.mit.edu 37 4 75245188 75245188 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:75245188C>T uc003hie.1 + 1 257 c.91C>T c.(91-93)Ctc>Ttc p.L31F EREG_uc003hid.3_Missense_Mutation_p.L25F NM_001432 NP_001423 O14944 EREG_HUMAN Homo sapiens epiregulin (EREG), mRNA. 31 angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of DNA replication|positive regulation of cell division|positive regulation of cytokine production|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing extracellular space|integral to plasma membrane epidermal growth factor receptor binding|growth factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13 Lung(101;0.196) ACAGGCAGTCCTCAGTACAAC 0.373000 180 14 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115858481 115858481 + Missense_Mutation SNP C G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:115858481C>G uc003ibu.3 - 4 2079 c.1400G>C c.(1399-1401)aGc>aCc p.S467T NDST4_uc010imw.3_Non-coding_Transcript NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 467 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CACCATGATGCTATTGTGAAT 0.438000 93 4 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32036463 32036463 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:32036463G>A uc003nzl.2 - 16 6126 c.5924C>T c.(5923-5925)tCa>tTa p.S1975L NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 2057 Fibronectin type-III 12. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGGAGGTTCTGAAGGCTTCTC 0.642000 88 4 0 0 1 0 0 S1PR3 1903 broad.mit.edu 37 9 91616643 91616643 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:91616643G>A uc022bjm.1 + 0 528 c.528G>A c.(526-528)tgG>tgA p.W176* S1PR3_uc004aqe.3_Nonsense_Mutation_p.W176* NM_005226 NP_005217 Q99500 S1PR3_HUMAN Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA. 176 anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1) 34 TTCTGGGCTGGAACTGCCTGC 0.582000 OREG0019291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 61 9 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990452 990452 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:990452G>A uc003zgw.1 + 1 904 c.866G>A c.(865-867)cGa>cAa p.R289Q NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA. 289 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) CTGTCCAGCCGATCCTCAGTC 0.572000 72 11 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196964876 196964876 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:196964876C>T uc001gts.4 + 4 765 c.637C>T c.(637-639)Caa>Taa p.Q213* NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN Homo sapiens complement factor H-related 5 (CFHR5), mRNA. 213 Sushi 4. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 TCCACCTCCTCAACTCTCCAA 0.333000 49 8 0 0 1 0 0 TMEM168 64418 broad.mit.edu 37 7 112407699 112407699 + Silent SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:112407699T>G uc003vgn.3 - 4 2039 c.1647A>C c.(1645-1647)tcA>tcC p.S549S TMEM168_uc010lju.3_Silent_p.S549S|TMEM168_uc011kmr.2_Silent_p.S165S NM_022484 NP_071929 Q9H0V1 TM168_HUMAN Homo sapiens transmembrane protein 168 (TMEM168), mRNA. 549 integral to membrane|transport vesicle breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 CCCAAGGGGTTGAATTTTCGC 0.413000 80 9 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38912193 38912193 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:38912193C>T uc021wvy.1 - 21 4001 c.3802G>A c.(3802-3804)Gat>Aat p.D1268N NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 1268 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCTGTGGAATCAACAGCTGCA 0.403000 78 9 0 0 1 0 0 CPSF3L 54973 broad.mit.edu 37 1 1250227 1250227 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:1250227C>T uc001aef.1 - 8 1210 c.697G>A c.(697-699)Gag>Aag p.E233K CPSF3L_uc009vjy.1_Non-coding_Transcript|CPSF3L_uc001aee.1_Missense_Mutation_p.E227K|CPSF3L_uc009vjz.1_Missense_Mutation_p.E205K|CPSF3L_uc010nyj.1_Missense_Mutation_p.E198K|CPSF3L_uc001aeg.1_Missense_Mutation_p.E103K|CPSF3L_uc001aeh.1_Missense_Mutation_p.E126K|CPSF3L_uc001aei.1_Missense_Mutation_p.E129K|CPSF3L_uc001aek.1_5'UTR Q5TA45 INT11_HUMAN Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA. 227 Golgi apparatus|nucleus hydrolase activity endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) TCCACGGTCTCGTGGACTTTC 0.642000 78 22 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32633685 32633685 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:32633685G>A uc003zrg.1 - 0 1983 c.1893C>T c.(1891-1893)atC>atT p.I631I AX747113_uc003zrh.1_Non-coding_Transcript NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 631 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GGAACTGCCGGATTTTGATGG 0.488000 82 12 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50873432 50873432 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:50873432C>T uc003blb.2 + 13 1860 c.1438C>T c.(1438-1440)Ctc>Ttc p.L480F PPP6R2_uc003blc.3_Missense_Mutation_p.L480F|PPP6R2_uc003bky.2_Missense_Mutation_p.L480F|PPP6R2_uc003bla.2_Missense_Mutation_p.L481F|PPP6R2_uc003bkz.2_Missense_Mutation_p.L480F|PPP6R2_uc003bld.2_Missense_Mutation_p.L39F NM_001242898 NP_001229827 O75170 PP6R2_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA. 480 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CATGGGCCACCTCACACGGAT 0.672000 46 8 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21107419 21107419 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:21107419G>A uc002zsz.4 - 23 2928 c.2667C>T c.(2665-2667)ttC>ttT p.F889F NM_058004 NP_477352 P42356 PI4KA_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA. 889 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TCATGTTCAGGAAGGCATCGA 0.502000 48 5 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11589929 11589929 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:11589929G>A uc001ash.4 + 14 3153 c.3015G>A c.(3013-3015)gtG>gtA p.V1005V NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 1005 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GGCCACTAGTGGATACCGGGG 0.637000 91 12 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92136247 92136247 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:92136247G>A uc001xzs.1 - 13 1338 c.1198C>T c.(1198-1200)Cca>Tca p.P400S CATSPERB_uc010aub.1_5'UTR NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 400 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.P400S(2) NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) CGAAAAATTGGAAATTTTGAT 0.408000 90 10 0 0 1 0 0 ITGB2 3689 broad.mit.edu 37 21 46306799 46306799 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:46306799T>C uc002zgd.2 - 13 2143 c.2099A>G c.(2098-2100)aAc>aGc p.N700S ITGB2_uc002zgf.3_Missense_Mutation_p.N700S|ITGB2_uc011afl.1_Missense_Mutation_p.N622S|ITGB2_uc010gpw.2_Missense_Mutation_p.N643S|ITGB2_uc002zgg.2_Missense_Mutation_p.N700S NM_001127491 NP_001120963 P05107 ITB2_HUMAN Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA. 700 apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) GGCGGCGATGTTGGGGCCTGC 0.642000 54 6 0 0 1 0 0 POLD3 10714 broad.mit.edu 37 11 74329632 74329633 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:74329632_74329633CC>TT uc001ovf.1 + 5 518_519 c.443_444CC>TT c.(442-444)tcc>tTT p.S148F POLD3_uc009yua.1_Missense_Mutation_p.S42F NM_006591 NP_006582 Q15054 DPOD3_HUMAN Homo sapiens polymerase (DNA-directed), delta 3, accessory subunit (POLD3), mRNA. 148 DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair|mismatch repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding p.S148S(3) breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) CCTGCTGAATCCTCTTCGTCTT 0.455000 167 10 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86087876 86087876 + Silent SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:86087876A>C uc021rxf.1 + 0 18 c.18A>C c.(16-18)acA>acC p.T6T FLRT2_uc001xvr.3_Silent_p.T6T|FLRT2_uc010atd.3_Silent_p.T6T NM_013231 NP_037363 O43155 FLRT2_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA. 6 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TACAGACCACAAAGTGGCCCA 0.433000 51 12 0 0 1 0 0 FAM18B2 201158 broad.mit.edu 37 17 15458665 15458665 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:15458665T>A uc002goq.2 - 1 209 c.26A>T c.(25-27)gAc>gTc p.D9V CDRT4_uc021tqm.1_5'UTR|FAM18B2_uc010vvx.2_Missense_Mutation_p.D9V|FAM18B2_uc010vvw.2_5'UTR|FAM18B2_uc010cor.2_Missense_Mutation_p.D9V NM_145301 NP_660344 Q96ET8 F18B2_HUMAN Homo sapiens family with sequence similarity 18, member B2 (FAM18B2), transcript variant 1, mRNA. 9 integral to membrane cervix(1)|endometrium(2)|kidney(1)|lung(2)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (92;0.0872)|BRCA - Breast invasive adenocarcinoma(8;0.0581)|READ - Rectum adenocarcinoma(1115;0.0967) ATCTTCAGTGTCATCATTACT 0.398000 84 13 0 0 1 0 0 OR51I1 390063 broad.mit.edu 37 11 5462101 5462101 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:5462101A>G uc010qze.2 - 0 683 c.644T>C c.(643-645)tTc>tCc p.F215S HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA. 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGCAGGATGAAAGTTGAGTC 0.458000 11 3 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137710502 137710502 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:137710502G>A uc004cfe.3 + 55 4613 c.4231_splice c.e55-1 p.G1411_splice NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 1411 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CGTCCTGCAGGGAGAAGCCGG 0.697000 19 4 0 0 1 0 0 RPP40 10799 broad.mit.edu 37 6 4996298 4996298 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:4996298G>A uc003mwl.3 - 6 815 c.780C>T c.(778-780)ttC>ttT p.F260F RPP40_uc003mwm.3_Silent_p.F237F NM_006638 NP_006629 O75818 RPP40_HUMAN Homo sapiens ribonuclease P/MRP 40kDa subunit (RPP40), mRNA. 260 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 14 Ovarian(93;0.11) all_hematologic(90;0.0895) AGGTTGATATGAAATTATTAG 0.368000 62 7 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26806257 26806257 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:26806257G>A uc001zbb.3 - 8 1173 c.1070C>T c.(1069-1071)cCc>cTc p.P357L GABRB3_uc021sgg.1_Missense_Mutation_p.P230L|GABRB3_uc021sgh.1_Missense_Mutation_p.P216L|GABRB3_uc001zaz.3_Missense_Mutation_p.P301L|GABRB3_uc001zba.3_Missense_Mutation_p.P301L NM_001191320 NP_001178249 P28472 GBRB3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA. 301 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TTTGACATAGGGGATTTTGGG 0.463000 73 6 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136196179 136196179 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:136196179G>A uc003era.1 - 9 1270 c.978C>T c.(976-978)ttC>ttT p.F326F STAG1_uc003erb.1_Silent_p.F326F|STAG1_uc003erc.1_Silent_p.F100F|STAG1_uc010hua.1_Silent_p.F189F NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN Homo sapiens stromal antigen 1 (STAG1), mRNA. 326 SCD. cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 TGTCATTTAGGAAGGCATCAC 0.358000 77 6 0 0 1 0 0 SYNJ2BP-COX16 100529257 broad.mit.edu 37 14 70795947 70795947 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:70795947G>A uc021rvn.1 - 4 530 c.403C>T c.(403-405)Cct>Tct p.P135S SYNJ2BP-COX16_uc001xmb.3_Missense_Mutation_p.P50S|SYNJ2BP-COX16_uc021rvl.1_Missense_Mutation_p.P26S|SYNJ2BP-COX16_uc021rvm.1_Missense_Mutation_p.P126S|SYNJ2BP-COX16_uc021rvo.1_Missense_Mutation_p.P102S NM_001202547 NP_001189476 Homo sapiens SYNJ2BP-COX16 readthrough (SYNJ2BP-COX16), transcript variant 1, mRNA. TCAAGCTCAGGATCCATCTGT 0.294000 31 6 0 0 1 0 0 RASEF 158158 broad.mit.edu 37 9 85613284 85613284 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:85613284C>T uc004amo.1 - 12 2062 c.1801G>A c.(1801-1803)Gag>Aag p.E601K NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA. 601 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm GTP binding|calcium ion binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 ACTTGCCTCTCCTGACCAGCT 0.448000 305 22 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178425883 178425883 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:178425883C>T uc001glq.3 + 12 3003 c.2239C>T c.(2239-2241)Cct>Tct p.P747S RASAL2_uc001glr.3_Missense_Mutation_p.P606S|RASAL2_uc009wxc.3_Missense_Mutation_p.P120S NM_170692 NP_733793 Q9UJF2 NGAP_HUMAN Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA. 606 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 GGGGCCTCTCCCTCGTGTTCT 0.448000 262 28 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751273 19751273 + Missense_Mutation SNP C T T rs146654670 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:19751273C>T uc009zzj.3 - 3 955 c.850G>A c.(850-852)Gag>Aag p.E284K NM_006001 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA. 284 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.E284K(2) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GACAGCTGCTCGTGGTAGGCC 0.607000 279 29 0 0 1 0 0 RNF175 285533 broad.mit.edu 37 4 154649469 154649469 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:154649469C>T uc003int.3 - 3 664 c.291G>A c.(289-291)acG>acA p.T97T RNF175_uc003inu.1_Intron NM_173662 NP_775933 Q8N4F7 RN175_HUMAN Homo sapiens ring finger protein 175 (RNF175), mRNA. 97 integral to membrane zinc ion binding breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 13 all_hematologic(180;0.093) Renal(120;0.118) ATAATTTTATCGTGAAATATA 0.453000 146 10 0 0 1 0 0 TSPAN8 7103 broad.mit.edu 37 12 71526584 71526584 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:71526584G>A uc009zrt.1 - 5 627 c.465C>T c.(463-465)gtC>gtT p.V155V TSPAN8_uc001swk.1_Silent_p.V155V|TSPAN8_uc001swj.1_Silent_p.V155V NM_004616 NP_004607 P19075 TSN8_HUMAN Homo sapiens tetraspanin 8 (TSPAN8), mRNA. 155 protein glycosylation integral to membrane|lysosome signal transducer activity breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) CAGCTCCATTGACCAAACCGC 0.353000 74 6 0 0 1 0 0 LGALS12 85329 broad.mit.edu 37 11 63276383 63276383 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:63276383G>A uc001nxc.2 + 2 702 c.361G>A c.(361-363)Gag>Aag p.E121K LGALS12_uc001nxa.2_Missense_Mutation_p.E120K|LGALS12_uc001nxb.2_Missense_Mutation_p.E120K|LGALS12_uc001nxd.2_Missense_Mutation_p.E59K|LGALS12_uc001nxe.2_Missense_Mutation_p.E59K|LGALS12_uc009yot.2_Missense_Mutation_p.E80K NM_001142535 NP_001136007 Q96DT0 LEG12_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA. 120 Galectin 1. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 CTGGCAAAGGGAGGCCCGGTG 0.602000 69 11 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50832478 50832478 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:50832478C>T uc003blb.2 + 3 563 c.141C>T c.(139-141)ttC>ttT p.F47F PPP6R2_uc003blc.3_Silent_p.F47F|PPP6R2_uc003bky.2_Silent_p.F47F|PPP6R2_uc003bla.2_Silent_p.F47F|PPP6R2_uc003bkz.2_Silent_p.F47F NM_001242898 NP_001229827 O75170 PP6R2_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA. 47 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 TGCTGGACTTCCTGTGCAGGC 0.542000 274 26 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149363 34149363 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:34149363G>A uc004ddg.3 - 0 1085 c.1033C>T c.(1033-1035)Cgt>Tgt p.R345C NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 345 p.R345H(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GACCCCCGACGAGTCTTGGAA 0.667000 23 4 0 0 1 0 0 OR3A1 4994 broad.mit.edu 37 17 3195499 3195499 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:3195499G>A uc002fvh.1 - 0 378 c.378C>T c.(376-378)ttC>ttT p.F126F NM_002550 NP_002541 P47881 OR3A1_HUMAN Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA. 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 AGATGGCCAGGAATCGGTCAT 0.597000 110 11 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171080091 171080091 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:171080091G>A uc001ghi.3 + 5 891 c.780G>A c.(778-780)atG>atA p.M260I FMO3_uc001ghh.3_Missense_Mutation_p.M260I|FMO3_uc010pmb.2_Missense_Mutation_p.M240I|FMO3_uc010pmc.2_Missense_Mutation_p.M197I NM_001002294 NP_008825 P31513 FMO3_HUMAN Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA. 260 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGAAGCAGATGAATGCAAGAT 0.438000 94 5 0 0 1 0 0 ZNF323 64288 broad.mit.edu 37 6 28294109 28294109 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:28294109T>C uc003nlc.3 - 3 1444 c.1055A>G c.(1054-1056)cAg>cGg p.Q352R ZNF323_uc003nld.3_Missense_Mutation_p.Q352R|ZNF323_uc010jra.3_Missense_Mutation_p.Q352R|ZNF323_uc003nla.3_Missense_Mutation_p.Q352R|ZNF323_uc003nlb.3_Missense_Mutation_p.Q193R|ZNF323_uc010jrb.3_Missense_Mutation_p.Q193R|ZNF323_uc021yrs.1_Missense_Mutation_p.Q352R|ZNF323_uc021yrt.1_Missense_Mutation_p.Q193R NM_030899 NP_001230173 Q96LW9 ZN323_HUMAN Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA. 352 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1) 27 CTCACGACACTGATAGCGCTT 0.502000 178 17 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40958352 40958352 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:40958352G>A uc003jmh.3 + 10 1592 c.1478G>A c.(1477-1479)gGg>gAg p.G493E C7_uc011cpn.1_Non-coding_Transcript NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 493 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GTCCTCGTAGGGAATCAAGCA 0.488000 49 4 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169644954 169644954 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:169644954C>T uc003fgd.3 + 5 1171 c.904C>T c.(904-906)Cga>Tga p.R302* SAMD7_uc003fge.3_Nonsense_Mutation_p.R302*|SAMD7_uc011bpo.2_Nonsense_Mutation_p.R203* NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 302 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) TCCAGTTCCTCGACCATCTCT 0.502000 101 10 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18292127 18292127 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:18292127G>A uc001ipo.2 + 11 2060 c.1787G>A c.(1786-1788)gGa>gAa p.G596E SLC39A12_uc001ipn.2_Missense_Mutation_p.G559E|SLC39A12_uc001ipp.2_Missense_Mutation_p.G595E|SLC39A12_uc010qck.1_Missense_Mutation_p.G462E|LOC100129213_uc001ipq.1_Non-coding_Transcript NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA. 596 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 TTAAGCTCTGGACTTTCTATG 0.398000 121 10 0 0 1 0 0 MFSD4 148808 broad.mit.edu 37 1 205561330 205561330 + Silent SNP C T T rs147933600 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:205561330C>T uc001hcv.4 + 6 1298 c.1212C>T c.(1210-1212)ttC>ttT p.F404F MFSD4_uc010prk.2_Silent_p.F317F|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.F349F|U6_uc021pic.1_5'Flank NM_181644 NP_857595 Q8N468 MFSD4_HUMAN Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA. 404 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) TCTTCCTGTTCGTGGGGACGG 0.607000 OREG0014160 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 4 0 0 1 0 0 HSD17B14 51171 broad.mit.edu 37 19 49318379 49318379 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:49318379C>T uc002pkv.1 - 5 655 c.389G>A c.(388-390)cGg>cAg p.R130Q HSD17B14_uc010emk.1_Missense_Mutation_p.R130Q NM_016246 NP_057330 Q9BPX1 DHB14_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 14 (HSD17B14), mRNA. 130 R -> W (in dbSNP:rs35299026). steroid catabolic process centrosome|cytosol estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity large_intestine(3)|lung(1)|skin(1) 5 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346) TTGACTCTTCCGCAGGTAGGG 0.582000 77 13 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6961660 6961660 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:6961660C>T uc002knm.3 - 52 7645 c.7551G>A c.(7549-7551)acG>acA p.T2517T LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Silent_p.T1993T NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 2517 Laminin G-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACTGCTGTTCGTGGTGGCAA 0.562000 42 6 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26707874 26707874 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:26707874G>A uc003acb.3 + 7 2018 c.1822G>A c.(1822-1824)Gaa>Aaa p.E608K SEZ6L_uc003acd.3_Missense_Mutation_p.E608K|SEZ6L_uc011akd.2_Missense_Mutation_p.E608K|SEZ6L_uc003ace.3_Missense_Mutation_p.E608K|SEZ6L_uc011akc.2_Missense_Mutation_p.E608K|SEZ6L_uc003acc.3_Missense_Mutation_p.E608K|SEZ6L_uc003acf.1_Missense_Mutation_p.E381K|SEZ6L_uc010gvc.1_Missense_Mutation_p.E381K NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 608 Sushi 2. 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 GGCCATCATCGAATGCATCAA 0.592000 173 26 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52575918 52575918 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:52575918G>A uc001jjj.3 - 8 1177 c.989C>T c.(988-990)tCt>tTt p.S330F A1CF_uc010qho.2_Missense_Mutation_p.S338F|A1CF_uc010qhn.2_Missense_Mutation_p.S338F|A1CF_uc009xov.3_Missense_Mutation_p.S330F|A1CF_uc001jji.3_Missense_Mutation_p.S330F|A1CF_uc001jjh.3_Missense_Mutation_p.S338F NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA. 330 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TTGGCCCAAAGAGTAGGTATA 0.517000 39 4 0 0 1 0 0 C5orf34 375444 broad.mit.edu 37 5 43508741 43508741 + Nonsense_Mutation SNP G A A rs143336043 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:43508741G>A uc003jnz.2 - 2 625 c.223C>T c.(223-225)Cga>Tga p.R75* C5orf34_uc011cpx.2_5'UTR NM_198566 NP_940968 Q96MH7 CE034_HUMAN Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA. 75 p.R75*(2) breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2) 21 Lung NSC(6;2.07e-05) GAAGAGTTTCGAAAATCTAGG 0.289000 76 5 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9076530 9076530 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9076530C>T uc002mkp.3 - 2 11120 c.10916G>A c.(10915-10917)gGa>gAa p.G3639E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3640 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGGCTGGTTCCAATGACAGT 0.448000 44 3 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180048900 180048900 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:180048900G>A uc003mlz.4 - 12 1741 c.1662C>T c.(1660-1662)atC>atT p.I554I FLT4_uc003mma.4_Silent_p.I554I|FLT4_uc003mmb.1_Silent_p.I87I|FLT4_uc011dgy.2_Silent_p.I554I NM_182925 NP_891555 P35916 VGFR3_HUMAN Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA. 554 positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) AGCCGTCGGGGATGGCTGTGG 0.652000 172 20 0 0 1 0 0 ITPRIP 85450 broad.mit.edu 37 10 106074666 106074666 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:106074666G>A uc001kyf.3 - 2 1597 c.1144C>T c.(1144-1146)Ctg>Ttg p.L382L ITPRIP_uc001kye.3_Silent_p.L382L|ITPRIP_uc001kyg.3_Silent_p.L382L|ITPRIP_uc021pxv.1_Silent_p.L382L NM_033397 NP_203755 Q8IWB1 IPRI_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA. 382 plasma membrane breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 GCAAAGGACAGGAGCCAGTCT 0.592000 66 5 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7984965 7984965 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:7984965C>T uc001mfv.1 - 0 95 c.78G>A c.(76-78)aaG>aaA p.K26K NM_176821 NP_789791 Q86W26 NAL10_HUMAN Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA. 26 DAPIN. ATP binding p.F25F(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACTTTAACTTCTTGAAATCGT 0.572000 100 9 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520640 33520640 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:33520640C>T uc002hjd.2 - 0 773 c.687G>A c.(685-687)gtG>gtA p.V229V NM_152462 NP_689675 Q8N808 AMAC1_HUMAN Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA. 229 integral to membrane CCAGCAGCCCCACCAAGCCAG 0.632000 101 8 0 0 1 0 0 SPIC 121599 broad.mit.edu 37 12 101880426 101880426 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:101880426G>A uc001tid.3 + 5 783 c.624G>A c.(622-624)ggG>ggA p.G208G SPIC_uc010svp.2_Silent_p.G208G|SPIC_uc009zua.3_Silent_p.G83G|SPIC_uc021rcq.1_Silent_p.G83G NM_152323 NP_689536 Q8N5J4 SPIC_HUMAN Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA. 208 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 22 ATTTCCTGGGGAAAGAGATCT 0.388000 153 13 0 0 1 0 0 PADI4 23569 broad.mit.edu 37 1 17660448 17660448 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:17660448C>T uc001baj.2 + 2 312 c.284C>T c.(283-285)tCa>tTa p.S95L PADI4_uc009vpc.2_Missense_Mutation_p.S95L NM_012387 NP_036519 Q9UM07 PADI4_HUMAN Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA. 95 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) GTTCAGATTTCATACTACGGA 0.532000 61 9 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32029489 32029489 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:32029489C>T uc003nzl.2 - 20 7379 c.7177G>A c.(7177-7179)Gaa>Aaa p.E2393K NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 2453 Fibronectin type-III 16. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGGGTCTCTTCCTCTGCAGCT 0.622000 60 4 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127318180 127318180 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:127318180C>T uc003ejp.3 + 1 83 c.26C>T c.(25-27)aCc>aTc p.T9I MCM2_uc011bkm.2_5'UTR|MCM2_uc010hsl.3_Non-coding_Transcript NM_004526 NP_004517 P49736 MCM2_HUMAN Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA. 9 Interaction with MYST2 (By similarity). DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex|chromatin ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 GAATCCTTCACCATGGCATCC 0.587000 389 38 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58134455 58134455 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:58134455C>T uc003djj.2 + 35 6132 c.5967C>T c.(5965-5967)ccC>ccT p.P1989P FLNB_uc010hne.2_Silent_p.P2020P|FLNB_uc003djk.2_Silent_p.P1978P|FLNB_uc010hnf.2_Silent_p.P1965P|FLNB_uc003djl.2_Silent_p.P1809P|FLNB_uc003djm.2_Silent_p.P1796P|FLNB_uc010hng.1_5'Flank NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 1989 Interaction with the cytoplasmic tail of GP1BA. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCAACAGCCCCGTGTCTATCA 0.572000 77 4 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141758086 141758086 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141758086C>T uc003vwy.3 + 30 3831 c.3777C>T c.(3775-3777)atC>atT p.I1259I NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1259 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ACTCTGAGATCGCCAGCTTGT 0.498000 263 18 0 0 1 0 0 EPC2 26122 broad.mit.edu 37 2 149520342 149520342 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:149520342C>T uc010zbt.2 + 5 946 c.919C>T c.(919-921)Cat>Tat p.H307Y NM_015630 NP_056445 Q52LR7 EPC2_HUMAN Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA. 307 DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) TAATGGAAATCATCACAAAGT 0.358000 29 3 0 0 1 0 0 C12orf12 196477 broad.mit.edu 37 12 91348265 91348265 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:91348265C>T uc001tbj.3 - 0 689 c.255G>A c.(253-255)tgG>tgA p.W85* NM_152638 NP_689851 Q8TC90 CL012_HUMAN Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA. 85 p.W85C(2) NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 27 CCCAGCACCCCCAGTTAGAGC 0.632000 49 5 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 10032214 10032214 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:10032214C>T uc010uym.2 - 3 919 c.609G>A c.(607-609)gtG>gtA p.V203V GRIN2A_uc002czo.4_Silent_p.V203V|GRIN2A_uc010uyn.2_Silent_p.V46V|GRIN2A_uc002czr.4_Silent_p.V203V NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 203 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCAGTGTGATCACATTCTGCA 0.498000 84 6 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2057203 2057203 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:2057203G>A uc003wpx.4 + 24 3199 c.3061G>A c.(3061-3063)Gaa>Aaa p.E1021K MYOM2_uc011kwi.2_Missense_Mutation_p.E446K NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 1021 muscle contraction myosin filament structural constituent of muscle p.S1020*(1) autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TCTGAAATCGGAATTAGCTTA 0.413000 45 7 0 0 1 0 0 CNR1 1268 broad.mit.edu 37 6 88854222 88854222 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:88854222C>T uc010kbz.3 - 1 902 c.772G>A c.(772-774)Gag>Aag p.E258K CNR1_uc011dzr.2_Missense_Mutation_p.E258K|CNR1_uc011dzs.2_Missense_Mutation_p.E258K|CNR1_uc003pmq.4_Missense_Mutation_p.E258K|CNR1_uc011dzt.2_Missense_Mutation_p.E258K|CNR1_uc010kca.3_Missense_Mutation_p.E225K|CNR1_uc021zco.1_Missense_Mutation_p.E258K NM_016083 NP_057167 P21554 CNR1_HUMAN Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA. 258 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) TGCAGTTTCTCGCAGTTCCAG 0.527000 90 10 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230656937 230656937 + Nonsense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:230656937C>A uc002vpx.1 - 27 4175 c.4066G>T c.(4066-4068)Gga>Tga p.G1356* TRIP12_uc021vxw.1_Nonsense_Mutation_p.G1341*|TRIP12_uc002vpy.1_Nonsense_Mutation_p.G1038*|TRIP12_uc002vpw.1_Nonsense_Mutation_p.G1308* NM_004238 NP_004229 Q14669 TRIPC_HUMAN Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA. 1308 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CTTACTCTTCCATACCCTGAA 0.353000 100 6 2.17888e-05 2.19448e-05 1 1 0 MICAL1 64780 broad.mit.edu 37 6 109771616 109771616 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:109771616C>T uc011eaq.2 - 7 1426 c.1135G>A c.(1135-1137)Gat>Aat p.D379N MICAL1_uc003ptj.3_Missense_Mutation_p.D360N|MICAL1_uc003ptk.3_Missense_Mutation_p.D360N|MICAL1_uc010kdr.3_Intron NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA. 360 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) GCAGAGACATCAGGCTGCCCA 0.617000 84 10 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204981968 204981969 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:204981968_204981969GG>AA uc010prc.2 + 25 3494_3495 c.1965_1966GG>AA c.(1963-1968)aaggaa>aaAAaa p.E656K NFASC_uc001hbj.3_Missense_Mutation_p.E1156K|NFASC_uc010pra.2_Missense_Mutation_p.E1090K|NFASC_uc001hbi.3_Missense_Mutation_p.E1085K|NFASC_uc010prb.2_Missense_Mutation_p.E1105K|NFASC_uc001hbl.2_Missense_Mutation_p.E232K|NFASC_uc001hbm.2_Missense_Mutation_p.E179K|NFASC_uc009xbh.2_Missense_Mutation_p.R10K|NFASC_uc001hbo.2_Missense_Mutation_p.R31K O94856 NFASC_HUMAN Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA. 1263 Fibronectin type-III 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AAGACCCCAAGGAAGAGGATGG 0.540000 103 4 0 0 1 0 0 ALOX15 246 broad.mit.edu 37 17 4536740 4536740 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:4536740C>T uc002fyh.3 - 8 1242 c.1217G>A c.(1216-1218)gGg>gAg p.G406E ALOX15_uc010vsd.2_Missense_Mutation_p.G367E|ALOX15_uc010vse.2_Missense_Mutation_p.G428E NM_001140 NP_001131 P16050 LOX15_HUMAN Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA. 406 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) AGAGACCAGCCCAGTCCTGGC 0.527000 177 15 0 0 1 0 0 IL12A 3592 broad.mit.edu 37 3 159707982 159707982 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:159707982C>T uc003fcx.3 + 1 368 c.147C>T c.(145-147)ctC>ctT p.L49L AK097161_uc003fcw.1_Intron NM_000882 NP_000873 P29459 IL12A_HUMAN Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA. 15 cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NK T cell activation|positive regulation of T cell mediated cytotoxicity|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of smooth muscle cell apoptosis|positive regulation of tyrosine phosphorylation of Stat4 protein|response to UV-B|response to lipopolysaccharide|response to virus interleukin-12 complex cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4) 9 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CCCTGGTCCTCCTGGACCACC 0.612000 75 8 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196636423 196636423 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:196636423G>A uc002utj.4 - 60 11495 c.11394C>T c.(11392-11394)acC>acT p.T3798T DNAH7_uc002uti.4_Silent_p.T281T NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3798 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AATCTCTTATGGTCTTCAGTA 0.373000 154 7 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23857013 23857013 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:23857013G>A uc001wjv.3 - 30 4550 c.4479C>T c.(4477-4479)tcC>tcT p.S1493S NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 1493 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GGTGCTCCAGGGACTCCTCGT 0.582000 180 12 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43552443 43552443 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:43552443G>A uc001zrd.2 - 2 251 c.243C>T c.(241-243)cgC>cgT p.R81R TGM5_uc001zre.2_Intron NM_201631 NP_963925 O43548 TGM5_HUMAN Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA. 81 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) GGCTGTGATGGCGTGCCAGGC 0.672000 31 7 0 0 1 0 0 GLRA4 441509 broad.mit.edu 37 X 102962307 102962307 + Nonsense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:102962307C>A uc011mse.2 - 8 1640 c.1219G>T c.(1219-1221)Gaa>Taa p.E407* NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN Homo sapiens glycine receptor, alpha 4 (GLRA4), transcript variant 1, mRNA. 407 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 GTTTCTCCTTCCCTTAGAAGA 0.527000 34 14 1.01871e-10 1.03023e-10 1 1 0 SAMD3 154075 broad.mit.edu 37 6 130465694 130465694 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:130465694C>T uc003qbw.3 - 11 1862 c.1534G>A c.(1534-1536)Gaa>Aaa p.E512K SAMD3_uc003qbx.3_Missense_Mutation_p.E512K NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA. 512 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) AATCCTACTTCGTTTTCCTTT 0.368000 34 4 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102175157 102175157 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:102175157C>T uc003dvt.1 + 3 596 c.496C>T c.(496-498)Ctt>Ttt p.L166F ZPLD1_uc003dvs.1_Missense_Mutation_p.L150F|ZPLD1_uc011bhg.1_Missense_Mutation_p.L150F NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA. 150 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 ACCTGGGCTTCTTTACAAATT 0.368000 211 18 0 0 1 0 0 NARS 4677 broad.mit.edu 37 18 55273872 55273872 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:55273872C>T uc002lgs.2 - 9 1341 c.1113G>A c.(1111-1113)ggG>ggA p.G371G NARS_uc010xea.1_Silent_p.G122G NM_004539 NP_004530 O43776 SYNC_HUMAN Homo sapiens asparaginyl-tRNA synthetase (NARS), mRNA. 371 asparaginyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|asparagine-tRNA ligase activity|nucleic acid binding|protein binding p.G371W(1) breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1) 20 Colorectal(73;0.227) L-Asparagine(DB00174) GCACTATGCTCCCTGCAGGTG 0.458000 173 17 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44664558 44664558 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:44664558C>T uc010zxl.1 + 3 567 c.491C>T c.(490-492)tCc>tTc p.S164F SLC12A5_uc002xra.2_Missense_Mutation_p.S141F|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.S141F NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA. 164 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) ATCTGCTGCTCCTGTGTGAGT 0.612000 98 4 0 0 1 0 0 CYLC2 1539 broad.mit.edu 37 9 105767709 105767709 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:105767709G>A uc004bbs.2 + 4 866 c.796G>A c.(796-798)Gag>Aag p.E266K NM_001340 NP_001331 Q14093 CYLC2_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA. 266 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton p.K265N(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) AGATGCAAAGGAGATTAAAAA 0.383000 51 10 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16510261 16510261 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:16510261G>A uc003goz.3 - 6 1104 c.788C>T c.(787-789)tCc>tTc p.S263F LDB2_uc003gpa.3_Missense_Mutation_p.S263F|LDB2_uc011bxh.2_Missense_Mutation_p.S235F|LDB2_uc003gpb.3_Missense_Mutation_p.S263F|LDB2_uc010iee.3_Missense_Mutation_p.S263F|LDB2_uc011bxi.2_Missense_Mutation_p.S139F NM_001290 NP_001281 O43679 LDB2_HUMAN Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA. 263 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 GCTGCTGGTGGAATTTTTCCT 0.493000 49 3 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114511151 114511151 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:114511151C>T uc001eem.3 + 12 2813 c.2652C>T c.(2650-2652)gtC>gtT p.V884V HIPK1_uc001eel.3_Silent_p.V884V|HIPK1_uc001een.3_Silent_p.V884V|HIPK1_uc001eeo.3_Silent_p.V510V|HIPK1_uc001eep.3_Silent_p.V490V|HIPK1_uc001eeq.3_Silent_p.V176V NM_198268 NP_938010 Q86Z02 HIPK1_HUMAN Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA. 884 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATTCCTTGGTCCCTGTCCAAG 0.498000 141 16 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140347041 140347041 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140347041G>A uc003lii.3 + 0 1295 c.690G>A c.(688-690)gtG>gtA p.V230V PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.V230V NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA. 230 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCACAGCCGTGGATGGGGGCA 0.597000 82 8 0 0 1 0 0 SLC5A4 6527 broad.mit.edu 37 22 32614620 32614620 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:32614620C>T uc003ami.3 - 14 1863 c.1861G>A c.(1861-1863)Gaa>Aaa p.E621K NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA. 621 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CTCAAGGCTTCCTCCTCCTCC 0.507000 124 35 0 0 1 0 0 SAMSN1 64092 broad.mit.edu 37 21 15872876 15872876 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:15872876C>T uc002yju.1 - 5 824 c.742G>A c.(742-744)Gag>Aag p.E248K SAMSN1_uc010gky.1_Missense_Mutation_p.E80K|SAMSN1_uc002yjv.1_Missense_Mutation_p.E316K NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA. 248 SAM. negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TCTAGGAACTCCTGCAGAGTC 0.428000 56 6 0 0 1 0 0 VAV3 10451 broad.mit.edu 37 1 108226151 108226151 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:108226151C>T uc001dvk.1 - 18 1790 c.1736G>A c.(1735-1737)cGg>cAg p.R579Q VAV3_uc001dvj.1_Missense_Mutation_p.R19Q|VAV3_uc010ouv.1_Intron|VAV3_uc010ouw.1_Missense_Mutation_p.R579Q|VAV3_uc001dvl.1_Missense_Mutation_p.R403Q|VAV3_uc010oux.1_Missense_Mutation_p.R579Q NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA. 579 B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TCCATTGGTCCGTTTCTGTGC 0.363000 75 8 0 0 1 0 0 CYP27A1 1593 broad.mit.edu 37 2 219676954 219676954 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:219676954C>T uc002viz.4 + 2 890 c.456C>T c.(454-456)caC>caT p.H152H NM_000784 NP_000775 Q02318 CP27A_HUMAN Homo sapiens cytochrome P450, family 27, subfamily A, polypeptide 1 (CYP27A1), nuclear gene encoding mitochondrial protein, mRNA. 152 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1) 26 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) GGGAAGGACACCACTGGTACC 0.542000 57 5 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189012615 189012615 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:189012615G>A uc011cle.1 - 7 1523 c.1301C>T c.(1300-1302)tCc>tTc p.S434F TRIML2_uc003izj.1_Missense_Mutation_p.S187F|TRIML2_uc003izk.1_Missense_Mutation_p.S167F|TRIML2_uc003izl.2_Missense_Mutation_p.S359F NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA. 359 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GATACAGAGGGAAAACACAGG 0.473000 106 6 0 0 1 0 0 GALNTL2 117248 broad.mit.edu 37 3 16242265 16242265 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:16242265G>A uc003car.4 + 2 1321 c.846G>A c.(844-846)atG>atA p.M282I GALNTL2_uc003caq.4_Missense_Mutation_p.M15I NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA. 282 Catalytic subdomain A. Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1) 33 TCGTCTTCATGGATGCCCACT 0.607000 44 4 0 0 1 0 0 MAL2 114569 broad.mit.edu 37 8 120233967 120233967 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:120233967G>A uc003yop.3 + 2 375 c.273G>A c.(271-273)gtG>gtA p.V91V NM_052886 NP_443118 Q969L2 MAL2_HUMAN Homo sapiens mal, T-cell differentiation protein 2 (gene/pseudogene) (MAL2), mRNA. 91 MARVEL. apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000967) CTGGCATGGTGGCTCAAATTG 0.428000 67 5 0 0 1 0 0 GCNT3 9245 broad.mit.edu 37 15 59910707 59910707 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:59910707G>A uc002age.3 + 2 719 c.270G>A c.(268-270)gaG>gaA p.E90E GCNT3_uc002agd.3_Silent_p.E90E|GCNT3_uc021smz.1_Silent_p.E90E NM_004751 NP_004742 O95395 GCNT3_HUMAN Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA. 90 protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity p.L89M(1) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATAACCTGGAGGTCAAGAAGA 0.498000 94 7 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40061553 40061553 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:40061553C>T uc003ayc.3 + 21 3902 c.3902C>T c.(3901-3903)tCc>tTc p.S1301F CACNA1I_uc003ayd.3_Missense_Mutation_p.S1266F|CACNA1I_uc003aye.3_Missense_Mutation_p.S1216F|CACNA1I_uc003ayf.3_Missense_Mutation_p.S1181F NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 1301 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) ACACTCATCTCCTCCCTCAAG 0.617000 81 8 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70886434 70886434 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:70886434C>T uc003pfc.1 + 41 2762 c.2645C>T c.(2644-2646)cCc>cTc p.P882L NM_001858 NP_001849 Q14993 COJA1_HUMAN Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA. 882 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CCAGCAGGTCCCCCAGGAATA 0.408000 51 4 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73594990 73594990 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:73594990C>T uc002avm.4 + 28 4531 c.4339C>T c.(4339-4341)Cac>Tac p.H1447Y NEO1_uc010ukx.2_Missense_Mutation_p.H1436Y|NEO1_uc010uky.2_Missense_Mutation_p.H1394Y|NEO1_uc002avn.4_Missense_Mutation_p.H1440Y|NEO1_uc010ukz.2_Missense_Mutation_p.H860Y NM_002499 NP_002490 Q92859 NEO1_HUMAN Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA. 1447 axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 AGAGATGGCCCACCTGGAAGG 0.493000 41 4 0 0 1 0 0 RNF8 9025 broad.mit.edu 37 6 37336780 37336780 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:37336780C>T uc003onq.4 + 2 954 c.761C>T c.(760-762)tCc>tTc p.S254F RNF8_uc003onr.4_Missense_Mutation_p.S254F|RNF8_uc011dtx.2_Missense_Mutation_p.S186F NM_003958 NP_003949 O76064 RNF8_HUMAN Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA. 254 cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 GTGACCATGTCCAGGATTCTG 0.438000 59 8 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10398343 10398343 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:10398343C>T uc002gmo.3 - 36 5465 c.5371G>A c.(5371-5373)Gaa>Aaa p.E1791K AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1791 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 ACCGTCTGTTCCAGGTTCTTC 0.562000 145 20 0 0 1 0 0 GALNT14 79623 broad.mit.edu 37 2 31152341 31152341 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:31152341C>T uc002rns.3 - 11 1726 c.1086G>A c.(1084-1086)cgG>cgA p.R362R GALNT14_uc002rnq.3_Silent_p.R337R|GALNT14_uc010ymr.2_Silent_p.R322R|GALNT14_uc002rnr.3_Silent_p.R357R|GALNT14_uc010ezo.2_Silent_p.R324R NM_001253826 NP_001240755 Q96FL9 GLT14_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA. 357 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) CTTCAGCTGTCCGCTTGGTGT 0.532000 61 15 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89351792 89351792 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:89351792C>T uc002fmx.1 - 8 1619 c.1158G>A c.(1156-1158)atG>atA p.M386I ANKRD11_uc002fmy.1_Missense_Mutation_p.M386I|ANKRD11_uc002fnc.1_Missense_Mutation_p.M386I|ANKRD11_uc002fnb.1_Missense_Mutation_p.M343I NM_013275 NP_037407 Q6UB99 ANR11_HUMAN Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA. 386 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTTTAACCTCCATTTTGGGTA 0.458000 88 5 0 0 1 0 0 FGGY 55277 broad.mit.edu 37 1 60139793 60139793 + Silent SNP C T T rs115951404 by1000genomes TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:60139793C>T uc009wac.3 + 14 1784 c.1572C>T c.(1570-1572)ttC>ttT p.F524F FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Silent_p.F500F|FGGY_uc001czl.4_Silent_p.F412F|FGGY_uc001czm.4_Silent_p.F201F NM_001113411 NP_001106882 Q96C11 FGGY_HUMAN Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA. 500 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) CAGGGGATTTCGCTTCTGTAC 0.577000 38 3 0 0 1 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1844594 1844594 + Silent SNP C T T rs141646890 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:1844594C>T uc003wpr.3 + 13 1714 c.1536C>T c.(1534-1536)ccC>ccT p.P512P ARHGEF10_uc003wpq.1_Silent_p.P537P|ARHGEF10_uc003wps.3_Silent_p.P474P|ARHGEF10_uc003wpt.3_Silent_p.P388P|ARHGEF10_uc003wpv.3_Silent_p.P245P|ARHGEF10_uc010lre.3_Silent_p.P192P NM_014629 NP_055444 O15013 ARHGA_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA. 537 DH. centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction Rho guanyl-nucleotide exchange factor activity|kinesin binding endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) CCACAAAGCCCGCTTTTCTTG 0.393000 62 10 0 0 1 0 0 ESR2 2100 broad.mit.edu 37 14 64749412 64749412 + Silent SNP G A A rs139503857 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:64749412G>A uc001xha.1 - 1 760 c.292C>T c.(292-294)Ctg>Ttg p.L98L ESR2_uc001xgy.2_Silent_p.L98L|ESR2_uc001xgu.3_Silent_p.L98L|ESR2_uc001xgv.3_Silent_p.L98L|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Silent_p.L98L|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Silent_p.L98L|ESR2_uc001xgz.2_Silent_p.L98L NM_001437 NP_001428 Q92731 ESR2_HUMAN Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA. 98 Modulating. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) TCCGCATACAGATGTGATAAC 0.493000 79 6 0 0 1 0 0 FAM169A 26049 broad.mit.edu 37 5 74109758 74109758 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:74109758C>T uc003kdm.3 - 5 620 c.577G>A c.(577-579)Gat>Aat p.D193N FAM169A_uc010izm.3_Intron|FAM169A_uc003kdl.3_Missense_Mutation_p.D11N NM_015566 NP_056381 Q9Y6X4 F169A_HUMAN Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA. 193 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 AGCCCAAAATCTTTACCTCTG 0.398000 79 7 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114172997 114172997 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:114172997G>A uc001kzu.3 + 11 1295 c.1183G>A c.(1183-1185)Gac>Aac p.D395N ACSL5_uc001kzs.3_Missense_Mutation_p.D339N|ACSL5_uc001kzt.3_Missense_Mutation_p.D339N|ACSL5_uc009xxz.3_Missense_Mutation_p.D339N|ACSL5_uc010qrj.2_Missense_Mutation_p.D121N NM_016234 NP_976314 Q9ULC5 ACSL5_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA. 339 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) GCTGGCTGACGACATGAAGAC 0.478000 145 20 0 0 1 0 0 NME8 51314 broad.mit.edu 37 7 37916582 37916582 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:37916582C>T uc003tfn.3 + 11 1339 c.967C>T c.(967-969)Cga>Tga p.R323* NM_016616 NP_057700 Q8N427 TXND3_HUMAN Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA. 323 NDK 2. CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity GGCATTACTTCGACCAAATCT 0.318000 29 8 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 42064779 42064779 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:42064779G>A uc002yyq.1 - 2 917 c.465C>T c.(463-465)atC>atT p.I155I DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 155 Ig-like C2-type 2. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGACGACAGTGATGTACGCCT 0.522000 72 7 0 0 1 0 0 ANGEL1 23357 broad.mit.edu 37 14 77272821 77272821 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:77272821A>T uc001xsv.3 - 4 1431 c.1318T>A c.(1318-1320)Tca>Aca p.S440T NM_015305 NP_056120 Q9UNK9 ANGE1_HUMAN Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA. 440 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) TAGAGAGGTGAATCAGGGACA 0.567000 66 9 0 0 1 0 0 ZNF280B 140883 broad.mit.edu 37 22 22843023 22843023 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:22843023G>A uc002zwc.1 - 3 1477 c.701C>T c.(700-702)cCt>cTt p.P234L abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.P234L NM_080764 NP_542942 Q86YH2 Z280B_HUMAN Homo sapiens zinc finger protein 280B (ZNF280B), mRNA. 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2) 22 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TGCTGGAAAAGGTGCTCCATT 0.368000 101 12 0 0 1 0 0 C7orf34 135927 broad.mit.edu 37 7 142636764 142636764 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142636764C>T uc003wca.2 + 0 162 c.121C>T c.(121-123)Cct>Tct p.P41S NM_178829 NP_849151 Q96L11 CG034_HUMAN Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA. 16 extracellular region large_intestine(1)|lung(4) 5 Melanoma(164;0.059) GTTCCTGGTTCCTATCTTGCT 0.632000 60 5 0 0 1 0 0 THEM5 284486 broad.mit.edu 37 1 151824892 151824892 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:151824892G>A uc021oyw.1 - 1 299 c.167C>T c.(166-168)gCt>gTt p.A56V NM_182578 NP_872384 Q8N1Q8 THEM5_HUMAN Homo sapiens thioesterase superfamily member 5 (THEM5), mRNA. 56 hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) ATTGGGAAGAGCATAATCCTT 0.512000 141 5 0 0 1 0 0 FKBP6 8468 broad.mit.edu 37 7 72745747 72745747 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:72745747C>T uc003tya.2 + 4 688 c.556C>T c.(556-558)Cgt>Tgt p.R186C FKBP6_uc003twz.2_Missense_Mutation_p.R156C|FKBP6_uc011kew.1_Missense_Mutation_p.R181C|FKBP6_uc010lbe.1_Non-coding_Transcript NM_003602 NP_003593 O75344 FKBP6_HUMAN Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA. 186 protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity p.R186C(3) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) CCGCCAGAATCGTTTCTATGA 0.423000 96 12 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9077304 9077304 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9077304G>A uc002mkp.3 - 2 10346 c.10142C>T c.(10141-10143)tCa>tTa p.S3381L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3382 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATCTGTCAATGAGCTCACAGA 0.473000 184 14 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167133619 167133619 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:167133619G>A uc010fpl.3 - 15 3056 c.2715C>T c.(2713-2715)tcC>tcT p.S905S BC051759_uc002udp.3_Non-coding_Transcript NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 916 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CAATCAGGAAGGAGTGGAAGA 0.493000 130 7 0 0 1 0 0 CLU 1191 broad.mit.edu 37 8 27455978 27455978 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:27455978G>A uc003xfy.2 - 8 1520 c.1373_splice c.e8+1 p.R458_splice CLU_uc003xfw.2_Splice_Site_p.R447_splice|CLU_uc003xfx.2_Splice_Site_p.R447_splice|CLU_uc003xfz.2_Splice_Site_p.R447_splice NM_001831 NP_001822 P10909 CLUS_HUMAN Homo sapiens clusterin (CLU), transcript variant 1, mRNA. 447 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) CCTGCTTACCGGTGCTTTTTG 0.547000 60 5 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11059122 11059122 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:11059122G>A uc010hdq.3 + 2 636 c.225G>A c.(223-225)ggG>ggA p.G75G NM_003042 NP_003033 P30531 SC6A1_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA. 75 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.C74C(1) breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) ATCTCTGCGGGAAAAATGGTG 0.607000 92 8 0 0 1 0 0 ENDOU 8909 broad.mit.edu 37 12 48107073 48107073 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:48107073C>T uc001rpu.2 - 6 1009 c.850G>A c.(850-852)Gaa>Aaa p.E284K ENDOU_uc010sll.2_Missense_Mutation_p.E50K|ENDOU_uc001rpt.2_Missense_Mutation_p.E243K|ENDOU_uc010slm.2_Missense_Mutation_p.E221K NM_001172439 NP_001165910 P21128 ENDOU_HUMAN Homo sapiens endonuclease, polyU-specific (ENDOU), transcript variant 1, mRNA. 284 female pregnancy|immune response|proteolysis cytoplasm|extracellular space|plasma membrane RNA binding|endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|scavenger receptor activity|serine-type peptidase activity autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1) 14 AAGACATGTTCAAAGCCACTC 0.502000 149 12 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119594328 119594328 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:119594328C>T uc001txa.2 + 12 1949 c.1561C>T c.(1561-1563)Cgg>Tgg p.R521W NM_194286 NP_919262 A7MD48 SRRM4_HUMAN Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA. 521 Arg-rich.|Ser-rich. RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing nucleus mRNA binding p.R521G(2) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 CCCCTACTATCGGCCCAGCCC 0.692000 58 9 0 0 1 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213415434 213415434 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:213415434G>A uc010ptr.2 + 10 2774 c.2615G>A c.(2614-2616)aGt>aAt p.S872N RPS6KC1_uc001hkd.3_Missense_Mutation_p.S860N|RPS6KC1_uc010pts.2_Missense_Mutation_p.S660N|RPS6KC1_uc010ptt.2_Missense_Mutation_p.S660N|RPS6KC1_uc010ptu.2_Missense_Mutation_p.S691N|RPS6KC1_uc010ptv.2_Missense_Mutation_p.S407N|RPS6KC1_uc001hke.3_Missense_Mutation_p.S691N NM_012424 NP_036556 Q96S38 KS6C1_HUMAN Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA. 872 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AAGGGTGAAAGTGGTTTAGTG 0.403000 66 4 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152195654 152195654 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:152195654C>T uc001ezt.1 - 1 152 c.76G>A c.(76-78)Gat>Aat p.D26N NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 26 EF-hand 1.|S-100-like. keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCAACGTATCATACTCCCCA 0.413000 147 6 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8185786 8185786 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:8185786G>A uc003wsh.4 - 3 2506 c.2506C>T c.(2506-2508)Ccc>Tcc p.P836S NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA. 836 ATP binding|non-membrane spanning protein tyrosine kinase activity CCGGGCTTGGGGGAGCCTTGG 0.612000 178 10 0 0 1 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870060 151870060 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:151870060C>T uc022chf.1 + 0 750 c.750C>T c.(748-750)ttC>ttT p.F250F MAGEA6_uc004ffq.1_Silent_p.F250F|MAGEA6_uc004ffr.1_Silent_p.F250F NM_175868 NP_787064 P43360 MAGA6_HUMAN Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA. 250 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CCCAATATTTCGTGCAGGAAA 0.537000 108 32 0 0 1 0 0 T 6862 broad.mit.edu 37 6 166580193 166580193 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:166580193G>A uc003qut.1 - 1 644 c.358C>T c.(358-360)Ccc>Tcc p.P120S T_uc003quu.1_Missense_Mutation_p.P120S|T_uc003quv.1_Missense_Mutation_p.P120S NM_003181 NP_003172 O15178 BRAC_HUMAN Homo sapiens T, brachyury homolog (mouse) (T), mRNA. 120 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity p.A119A(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) ACGCAGCTGGGCGCCTGCGGC 0.632000 Chordoma, Familial Clustering of 86 7 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76437259 76437259 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:76437259C>T uc010dhp.2 - 71 11676 c.11551G>A c.(11551-11553)Ggc>Agc p.G3851S DNAH17_uc002jvq.3_Missense_Mutation_p.G136S|DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AACTTGCTGCCCATCTTTTCC 0.617000 49 4 0 0 1 0 0 TMEM8B 51754 broad.mit.edu 37 9 35853798 35853798 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:35853798C>T uc003zyo.3 + 12 2668 c.1380C>T c.(1378-1380)ggC>ggT p.G460G TMEM8B_uc003zym.3_Silent_p.G460G NM_001042590 NP_001036055 A6NDV4 TMM8B_HUMAN Homo sapiens transmembrane protein 8B (TMEM8B), transcript variant 1, mRNA. 460 cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 7 GCCTCGTGGGCCCAGGAGGGG 0.637000 49 13 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15734686 15734686 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:15734686C>T uc001rcv.2 + 22 3676 c.3206C>T c.(3205-3207)tCa>tTa p.S1069L PTPRO_uc001rcw.2_Missense_Mutation_p.S1041L|PTPRO_uc001rcx.2_Missense_Mutation_p.S258L|PTPRO_uc001rcy.2_Missense_Mutation_p.S258L|PTPRO_uc001rcz.2_Missense_Mutation_p.S230L|PTPRO_uc001rda.2_Missense_Mutation_p.S230L NM_030667 NP_109592 Q16827 PTPRO_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA. 1069 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) GAGATGATTTCAGAGGAAGAG 0.483000 52 7 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123109328 123109328 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:123109328C>T uc003vkn.3 - 8 2098 c.1521G>A c.(1519-1521)ctG>ctA p.L507L IQUB_uc003vko.3_Silent_p.L507L|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Silent_p.L507L NM_178827 NP_849149 Q8NA54 IQUB_HUMAN Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA. 507 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 AGATATTTTTCAGCATAATGC 0.398000 102 7 0 0 1 0 0 SLC22A2 6582 broad.mit.edu 37 6 160664719 160664719 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:160664719G>A uc003qtf.3 - 6 1338 c.1164C>T c.(1162-1164)ttC>ttT p.F388F NM_003058 NP_003049 O15244 S22A2_HUMAN Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA. 388 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity p.E387K(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) AGGCAGCTGGGAATTCAACCA 0.552000 92 7 0 0 1 0 0 KLHL7 55975 broad.mit.edu 37 7 23213840 23213840 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:23213840C>T uc003svs.4 + 10 1977 c.1684C>T c.(1684-1686)Cgt>Tgt p.R562C KLHL7_uc003svr.4_Missense_Mutation_p.R540C|KLHL7_uc011jys.2_Missense_Mutation_p.R486C|KLHL7_uc011jyt.2_Missense_Mutation_p.R337C|KLHL7_uc003svt.3_Missense_Mutation_p.R514C|KLHL7_uc011jyv.2_Missense_Mutation_p.R292C NM_001031710 NP_061334 Q8IXQ5 KLHL7_HUMAN Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA. 562 Golgi apparatus|nucleolus|plasma membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CTCCAAAGTTCGTGCTTTTCC 0.398000 124 12 0 0 1 0 0 ELL2 22936 broad.mit.edu 37 5 95234462 95234462 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:95234462C>T uc003klr.4 - 7 1357 c.1007G>A c.(1006-1008)cGa>cAa p.R336Q NM_012081 NP_036213 O00472 ELL2_HUMAN Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA. 336 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) GTGAGATATTCGGGCTTTTTT 0.448000 208 13 0 0 1 0 0 FEZF2 55079 broad.mit.edu 37 3 62357301 62357301 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:62357301G>A uc003dlh.2 - 1 1101 c.894C>T c.(892-894)gtC>gtT p.V298V FEZF2_uc003dli.2_Silent_p.V298V NM_018008 NP_060478 Q8TBJ5 FEZF2_HUMAN Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA. 298 transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1) 20 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) CTCCGGTGTGGACCGGCATGT 0.582000 116 12 0 0 1 0 0 ALOX12B 242 broad.mit.edu 37 17 7984278 7984278 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:7984278G>A uc002gjy.1 - 3 712 c.451C>T c.(451-453)Cct>Tct p.P151S BC046191_uc010cnq.2_Non-coding_Transcript NM_001139 NP_001130 O75342 LX12B_HUMAN Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA. 151 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 GGCAGGCCAGGAAGAAAGACT 0.642000 Multiple Myeloma(8;0.094) 80 7 0 0 1 0 0 AKNAD1 254268 broad.mit.edu 37 1 109391555 109391555 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:109391555C>T uc001dwa.3 - 3 1430 c.1161G>A c.(1159-1161)caG>caA p.Q387Q AKNAD1_uc010ovb.2_Silent_p.Q94Q|AKNAD1_uc001dwb.3_Non-coding_Transcript NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA. 387 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 GTTGATCAGTCTGTTCTTTCA 0.338000 66 5 0 0 1 0 0 C14orf166B 145497 broad.mit.edu 37 14 77333740 77333740 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:77333740G>A uc001xsx.2 + 12 1515 c.1401G>A c.(1399-1401)gtG>gtA p.V467V C14orf166B_uc010asn.1_Silent_p.V227V|C14orf166B_uc001xsw.2_Non-coding_Transcript NM_194287 NP_919263 Q0VAA2 CN16B_HUMAN Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA. 467 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) TCAGGGAGGTGATAAAGAAGC 0.567000 50 9 0 0 1 0 0 OR1L6 392390 broad.mit.edu 37 9 125512920 125512920 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:125512920C>T uc022bna.1 + 0 794 c.794C>T c.(793-795)tCc>tTc p.S265F NM_001004453 NP_001004453 Q8NGR2 OR1L6_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA. 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 AGGCCCCTGTCCATGTACTCA 0.498000 42 9 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140263050 140263050 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140263050C>T uc003lif.2 + 0 1197 c.1197C>T c.(1195-1197)tcC>tcT p.S399S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.S399S|PCDHAC2_uc003lid.3_Silent_p.S399S NM_018904 NP_061727 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA. 413 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTGGTGTCCACCTACAAGA 0.587000 279 17 0 0 1 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51649195 51649195 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:51649195C>T uc002pvv.1 + 3 913 c.844C>T c.(844-846)Ccc>Tcc p.P282S SIGLEC7_uc002pvw.1_Missense_Mutation_p.P189S|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA. 282 Ig-like C2-type 2. cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) TGACAGCAATCCCCCTGCCAG 0.572000 181 32 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158618311 158618311 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:158618311G>A uc001fst.1 - 25 3901 c.3702C>T c.(3700-3702)ccC>ccT p.P1234P NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1234 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.V1233I(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TATCTCCCAGGGGTACGAGGT 0.493000 53 5 0 0 1 0 0 WDR93 56964 broad.mit.edu 37 15 90280818 90280818 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:90280818C>T uc002boj.3 + 14 1724 c.1623C>T c.(1621-1623)tcC>tcT p.S541S WDR93_uc010bnr.3_Silent_p.S513S|WDR93_uc010upz.2_Silent_p.S258S NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN Homo sapiens WD repeat domain 93 (WDR93), mRNA. 541 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) TCATCTTTTCCAAGAATGGCT 0.557000 170 16 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110509215 110509215 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:110509215G>A uc003yne.3 + 63 10499 c.10395G>A c.(10393-10395)atG>atA p.M3465I NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 3465 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGATCTATATGAACCAAGATG 0.378000 HNSCC(38;0.096) 77 7 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8668757 8668757 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:8668757G>A uc002mkj.1 - 4 721 c.447C>T c.(445-447)atC>atT p.I149I ADAMTS10_uc002mkk.1_5'UTR NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 149 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 CGTCTGCCACGATCAGGCCGT 0.552000 65 5 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55356583 55356583 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:55356583C>T uc010spd.1 - 8 1232 c.1099G>A c.(1099-1101)Gaa>Aaa p.E367K TESPA1_uc001sgl.3_Missense_Mutation_p.E229K|TESPA1_uc001sgm.3_Missense_Mutation_p.E114K|TESPA1_uc010spb.1_Missense_Mutation_p.E114K|TESPA1_uc010spc.1_Missense_Mutation_p.E229K|TESPA1_uc001sgn.3_Missense_Mutation_p.E367K NM_001136030 NP_001092285 A2RU30 K0748_HUMAN Homo sapiens KIAA0748 (KIAA0748), mRNA. 367 TGCTGTGTTTCCTCTTCACAG 0.517000 37 4 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19656290 19656290 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:19656290G>A uc002nmw.4 + 7 3039 c.2954G>A c.(2953-2955)cGa>cAa p.R985Q CILP2_uc002nmv.4_Missense_Mutation_p.R979Q NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA. 979 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CGGAGTGTGCGAGACCCCGAG 0.677000 46 4 0 0 1 0 0 ZNF23 7571 broad.mit.edu 37 16 71482644 71482644 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:71482644G>A uc002faf.3 - 5 2098 c.1284C>T c.(1282-1284)gcC>gcT p.A428A ZNF23_uc002fah.3_Silent_p.A428A|ZNF23_uc002fad.3_Silent_p.A370A|ZNF23_uc010vmf.2_Silent_p.A370A|ZNF23_uc002fag.3_Silent_p.A370A|ZNF23_uc002fai.3_Silent_p.A467A NM_145911 NP_666016 P17027 ZNF23_HUMAN Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA. 428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1) 29 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) TACATCTGAAGGCTTTCCCGC 0.463000 75 4 0 0 1 0 0 LAIR1 3903 broad.mit.edu 37 19 54872598 54872598 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:54872598C>T uc002qfk.1 - 2 599 c.289G>A c.(289-291)Ggg>Agg p.G97R LAIR1_uc002qfl.1_Missense_Mutation_p.G97R|LAIR1_uc002qfm.1_Missense_Mutation_p.G96R|LAIR1_uc002qfn.1_Missense_Mutation_p.G96R|LAIR1_uc010yex.2_Missense_Mutation_p.G90R|LAIR1_uc002qfo.3_Missense_Mutation_p.G79R NM_002287 NP_002278 Q6GTX8 LAIR1_HUMAN Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA. 97 Ig-like C2-type. integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) CGATAAGGCCCGGCATTTCCT 0.507000 217 10 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21032384 21032384 + Missense_Mutation SNP C T T rs145877520 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:21032384C>T uc010sil.2 + 8 1215 c.1150C>T c.(1150-1152)Cct>Tct p.P384S SLCO1B3_uc001rek.3_Missense_Mutation_p.P384S|SLCO1B3_uc001rel.3_Missense_Mutation_p.P384S|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 384 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) CATAACCATTCCTACGGTTGC 0.269000 27 4 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47279916 47279916 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:47279916G>A uc001cqn.4 + 6 895 c.811G>A c.(811-813)Gat>Aat p.D271N CYP4B1_uc009vyl.1_Missense_Mutation_p.D107N|CYP4B1_uc001cqm.4_Missense_Mutation_p.D270N|CYP4B1_uc009vym.3_Missense_Mutation_p.D256N|CYP4B1_uc010omk.2_Missense_Mutation_p.D107N|CYP4B1_uc010oml.1_Missense_Mutation_p.D108N NM_001099772 NP_001093242 P13584 CP4B1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA. 270 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.E271*(1) NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) AGCCCTGCAGGATGAGAAGGT 0.577000 55 3 0 0 1 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97371042 97371042 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:97371042G>A uc001kkz.3 - 15 2323 c.2081C>T c.(2080-2082)tCc>tTc p.S694F ALDH18A1_uc001kky.3_Missense_Mutation_p.S692F|ALDH18A1_uc010qog.2_Missense_Mutation_p.S583F|ALDH18A1_uc010qoh.2_Missense_Mutation_p.S482F NM_002860 NP_002851 P54886 P5CS_HUMAN Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 694 Gamma-glutamyl phosphate reductase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) ATCCGTGTGGGAGCTGCCATA 0.522000 180 19 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 74005189 74005190 + Missense_Mutation DNP CC TG TG TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:74005189_74005190CC>TG uc003uaq.3 + 23 2872_2873 c.2479_2480CC>TG c.(2479-2481)cct>TGt p.P827C GTF2IRD1_uc010lbq.3_Missense_Mutation_p.P844C|GTF2IRD1_uc003uap.3_Missense_Mutation_p.P812C|GTF2IRD1_uc003uar.1_Missense_Mutation_p.P812C NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA. 827 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GGTGCTGGTCCCTTATAAACTA 0.599000 73 4 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538048 55538048 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:55538048G>A uc003xsd.1 + 3 1754 c.1606G>A c.(1606-1608)Gaa>Aaa p.E536K RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 536 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.E536K(2) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AAGAAAAAAGGAAAACAGTCT 0.338000 42 5 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164777087 164777087 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:164777087C>T uc003fei.3 - 11 1210 c.1147_splice c.e11-1 p.D383_splice NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 383 Isomaltase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACCTGTGTATCCTGAAAGTTA 0.348000 HNSCC(35;0.089) 40 3 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40081463 40081463 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:40081463C>T uc002xka.1 - 20 3418 c.3240G>A c.(3238-3240)acG>acA p.T1080T NM_032221 NP_115597 Q8TD26 CHD6_HUMAN Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA. 1080 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GCCTGGATCTCGTGGGCCTTT 0.547000 56 6 0 0 1 0 0 TCRB 0 broad.mit.edu 37 7 142099719 142099719 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142099719C>T uc003vyz.1 - 1 83 c.83G>A c.(82-84)aGg>aAg p.R28K TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.R28K SubName: Full=Uncharacterized protein; GACTTTGTACCTAGGGGACTG 0.473000 33 3 0 0 1 0 0 GNAZ 2781 broad.mit.edu 37 22 23438189 23438189 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:23438189G>A uc002zwu.1 + 1 844 c.307G>A c.(307-309)Gac>Aac p.D103N RTDR1_uc002zwt.3_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA. 103 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity p.D103D(1) endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) CCGCGCCTACGACGCTGTGCA 0.662000 173 20 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156592713 156592713 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:156592713G>A uc003lwn.3 - 0 567 c.467C>T c.(466-468)cCc>cTc p.P156L NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 156 nucleus p.C155C(1) NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTCAGAAGAGGGACACAACTG 0.473000 81 9 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226446848 226446848 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:226446848G>A uc002voe.2 + 3 890 c.715G>A c.(715-717)Gag>Aag p.E239K NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.E9K NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 239 GGGAGACCCCGAGGAAGAGGA 0.587000 127 14 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800820 185800820 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:185800820T>A uc002uph.3 + 3 1291 c.697T>A c.(697-699)Ttc>Atc p.F233I NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 233 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AGCTGCAGCCTTCTCTGAATA 0.453000 76 5 0 0 1 0 0 AGAP3 116988 broad.mit.edu 37 7 150838997 150838997 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:150838997C>T uc003wjg.1 + 13 1820 c.1817C>T c.(1816-1818)tCg>tTg p.S606L AGAP3_uc003wje.1_Missense_Mutation_p.S275L|AGAP3_uc003wjj.1_Missense_Mutation_p.S105L|AGAP3_uc003wjk.1_Missense_Mutation_p.S24L NM_031946 NP_114152 Q96P47 AGAP3_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA. 570 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 GCAGAGGAGTCGTTTGAATTT 0.612000 111 4 0 0 1 0 0 PANK2 80025 broad.mit.edu 37 20 3870338 3870338 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:3870338C>T uc002wkc.3 + 0 597 c.591C>T c.(589-591)tcC>tcT p.S197S BC012193_uc002wjz.2_5'Flank|BC012193_uc002wka.1_5'Flank|PANK2_uc002wkb.3_Intron|PANK2_uc010gbd.1_Non-coding_Transcript|PANK2_uc002wkd.3_Non-coding_Transcript|PANK2_uc002wke.3_5'Flank|PANK2_uc002wkf.3_5'Flank NM_153638 NP_705902 Q9BZ23 PANK2_HUMAN Homo sapiens pantothenate kinase 2 (PANK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 197 cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CCTCGGTCTCCCGCCAGCGCG 0.756000 34 3 0 0 1 0 0 OR10C1 442194 broad.mit.edu 37 6 29408455 29408455 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:29408455C>T uc011dlp.2 + 0 740 c.663C>T c.(661-663)ctC>ctT p.L221L OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA. 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GGCGTATCCTCGTTACCATCT 0.592000 258 16 0 0 1 0 0 SEC14L3 266629 broad.mit.edu 37 22 30864656 30864656 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:30864656G>A uc003ahy.3 - 4 351 c.262C>T c.(262-264)Ctg>Ttg p.L88L SEC14L3_uc003ahz.3_Silent_p.L11L|SEC14L3_uc003aia.3_Silent_p.L29L|SEC14L3_uc003aib.3_Silent_p.L29L NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA. 88 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) TAGCCACACAGGCCCCCAGGC 0.562000 216 17 0 0 1 0 0 FBXO32 114907 broad.mit.edu 37 8 124553243 124553243 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:124553243G>A uc003yqr.3 - 0 251 c.12C>T c.(10-12)ctC>ctT p.L4L FBXO32_uc010mdk.3_Silent_p.L4L NM_058229 NP_680482 Q969P5 FBX32_HUMAN Homo sapiens F-box protein 32 (FBXO32), transcript variant 1, mRNA. 4 autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1) 21 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) AGTCCTGCCCGAGGAATGGCA 0.697000 45 7 0 0 1 0 0 PAK3 5063 broad.mit.edu 37 X 110439807 110439807 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:110439807G>A uc010npv.1 + 13 1481 c.1454G>A c.(1453-1455)gGa>gAa p.G485E PAK3_uc010npt.1_Missense_Mutation_p.G449E|PAK3_uc010npu.1_Missense_Mutation_p.G449E|PAK3_uc004eoy.1_Missense_Mutation_p.G204E|PAK3_uc004eoz.2_Missense_Mutation_p.G449E|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.G470E|PAK3_uc004epa.2_Missense_Mutation_p.G464E NM_001128168 NP_001121640 O75914 PAK3_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA. 464 Protein kinase. multicellular organismal development ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TGGTCTCTTGGAATTATGGCA 0.443000 TSP Lung(19;0.15) 31 7 0 0 1 0 0 RPTOR 57521 broad.mit.edu 37 17 78931467 78931467 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:78931467C>T uc002jyt.1 + 28 4219 c.3414C>T c.(3412-3414)ctC>ctT p.L1138L RPTOR_uc010wug.1_Silent_p.L980L|RPTOR_uc002jyu.1_Silent_p.L31L NM_020761 NP_065812 Q8N122 RPTOR_HUMAN Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA. 1138 TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity TORC1 complex|cytosol|lysosome protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 CCGGCCTCCTCATGAGCTCAG 0.627000 154 20 0 0 1 0 0 SERPINA11 256394 broad.mit.edu 37 14 94912697 94912697 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:94912697C>T uc001ydd.1 - 2 948 c.888G>A c.(886-888)ctG>ctA p.L296L NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA. 296 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.D296G(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) CCCATTTTCTCAGGGTCTGTG 0.562000 102 5 0 0 1 0 0 MICALCL 84953 broad.mit.edu 37 11 12341302 12341302 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:12341302A>G uc001mkg.1 + 3 1777 c.1486A>G c.(1486-1488)Acc>Gcc p.T496A NM_032867 NP_116256 Q6ZW33 MICLK_HUMAN Homo sapiens MICAL C-terminal like (MICALCL), mRNA. 496 Poly-Ser. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) TGCCTCTTCAACCTCCTCCTC 0.493000 98 10 0 0 1 0 0 OR2F1 26211 broad.mit.edu 37 7 143657706 143657706 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:143657706C>T uc003wds.1 + 0 687 c.643C>T c.(643-645)Ctt>Ttt p.L215F NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) CTGCCTGGTTCTTTTGTCCTA 0.502000 109 4 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187539302 187539302 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:187539302G>A uc003izf.3 - 9 8626 c.8438C>T c.(8437-8439)cCa>cTa p.P2813L NM_005245 NP_005236 Q14517 FAT1_HUMAN Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA. 2813 Cadherin 26. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGCCTCATATGGACTAGATTC 0.458000 HNSCC(5;0.00058) 130 9 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065032 9065032 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9065032G>A uc002mkp.3 - 2 22618 c.22414C>T c.(22414-22416)Cat>Tat p.H7472Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7474 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGAAAGGATGAATTTTCTCC 0.483000 104 11 0 0 1 0 0 CRTC1 23373 broad.mit.edu 37 19 18870933 18870933 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:18870933C>T uc010ebv.3 + 8 917 c.829C>T c.(829-831)Ccg>Tcg p.P277S CRTC1_uc002nkb.4_Missense_Mutation_p.P261S|CRTC1_uc010ebw.3_Missense_Mutation_p.P126S NM_001098482 NP_001091952 Q6UUV9 CRTC1_HUMAN Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA. 261 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 GCTCCCGACCCCGCTGGACCC 0.692000 79 10 0 0 1 0 0 APOBEC3F 200316 broad.mit.edu 37 22 39477501 39477501 + Silent SNP C T T rs143077923 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:39477501C>T uc021wpr.1 + 3 785 c.492C>T c.(490-492)ttC>ttT p.F164F APOBEC3F_uc003awx.3_Silent_p.F164F|APOBEC3F_uc003awy.3_Silent_p.F97F NM_021822 NP_068594 Q9HC16 ABC3G_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA. 164 DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding p.F164F(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) GGAGCAAGTTCGTGTACAGCC 0.483000 170 12 0 0 1 0 0 FAM151A 338094 broad.mit.edu 37 1 55080513 55080513 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:55080513C>T uc001cxn.3 - 3 567 c.435G>A c.(433-435)aaG>aaA p.K145K ACOT11_uc001cxm.2_Intron NM_176782 NP_788954 Q8WW52 F151A_HUMAN Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA. 145 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CCTTGATGTTCTTGAAGTCCA 0.562000 44 5 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39991221 39991221 + Missense_Mutation SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:39991221A>C uc002xjy.1 - 3 1212 c.988T>G c.(988-990)Tgt>Ggt p.C330G NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA. 330 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) CGCAGGTCACACTCACTCTGG 0.677000 20 4 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55119985 55119985 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:55119985C>T uc003pcl.3 + 2 769 c.454C>T c.(454-456)Cgg>Tgg p.R152W HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.R87W NM_001526 NP_001517 O43614 OX2R_HUMAN Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA. 152 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CGCCTTGGATCGGTGGTATGC 0.453000 67 11 0 0 1 0 0 BCAS3 54828 broad.mit.edu 37 17 58980029 58980029 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:58980029C>T uc002iyv.4 + 10 896 c.787C>T c.(787-789)Cag>Tag p.Q263* BCAS3_uc010wow.1_Nonsense_Mutation_p.Q50*|BCAS3_uc002iyu.4_Nonsense_Mutation_p.Q263*|BCAS3_uc002iyw.4_Nonsense_Mutation_p.Q259*|BCAS3_uc002iyx.1_Nonsense_Mutation_p.Q78*|BCAS3_uc002iyy.4_Nonsense_Mutation_p.Q34* NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA. 263 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) AGACAACATTCAGTCTTATAC 0.418000 126 17 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12736727 12736727 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:12736727C>T uc004cuz.2 + 15 4288 c.3782C>T c.(3781-3783)tCa>tTa p.S1261L FRMPD4_uc011mij.2_Missense_Mutation_p.S1253L NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA. 1261 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TACATTCCTTCAGAGGAGAGA 0.597000 37 9 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93967994 93967994 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:93967994C>T uc003poe.3 - 10 2174 c.1933G>A c.(1933-1935)Ggt>Agt p.G645S EPHA7_uc003pof.3_Missense_Mutation_p.G640S|EPHA7_uc011eac.2_Missense_Mutation_p.G641S NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 645 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CAGACTTCACCGAATTCTCCT 0.348000 97 14 0 0 1 0 0 GCNT4 51301 broad.mit.edu 37 5 74325203 74325203 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:74325203C>T uc003kdn.3 - 0 1522 c.660G>A c.(658-660)tgG>tgA p.W220* NM_016591 NP_057675 Q9P109 GCNT4_HUMAN Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA. 220 protein O-linked glycosylation Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) TAACATATTTCCACTGGATTG 0.398000 95 8 0 0 1 0 0 CHST5 23563 broad.mit.edu 37 16 75563245 75563245 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:75563245C>T uc002fej.1 - 4 1377 c.1056G>A c.(1054-1056)agG>agA p.R352R CHST5_uc002fei.3_Silent_p.R346R|CHST5_uc021tlk.1_Silent_p.R346R NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA. 346 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 TGCGCGCATTCCTAGACGAAG 0.662000 117 13 0 0 1 0 0 DIAPH3 81624 broad.mit.edu 37 13 60407285 60407285 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:60407285C>T uc001vht.3 - 23 3202 c.2983G>A c.(2983-2985)Gaa>Aaa p.E995K DIAPH3_uc001vhu.3_Missense_Mutation_p.E732K NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA. 995 FH2. actin cytoskeleton organization Rho GTPase binding|actin binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AGAAAGTCTTCCACAGACACC 0.303000 41 3 0 0 1 0 0 PDCD4 27250 broad.mit.edu 37 10 112641098 112641098 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:112641098A>G uc001kzh.3 + 2 437 c.151A>G c.(151-153)Aac>Gac p.N51D PDCD4_uc001kzg.3_Missense_Mutation_p.N40D|PDCD4_uc010qre.2_Missense_Mutation_p.N37D NM_014456 NP_055271 Q53EL6 PDCD4_HUMAN Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA. 51 apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent cytosol|nucleus RNA binding|protein binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 13 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) ATCCTCCATTAACGAAGCTAG 0.443000 89 12 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108224574 108224574 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:108224574C>T uc003dxa.1 - 2 308 c.251G>A c.(250-252)gGa>gAa p.G84E NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 84 Myosin head-like. myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CTTTACCTCTCCATCTGCTGT 0.328000 109 5 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121615313 121615313 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:121615313G>A uc003eep.2 + 1 319 c.166G>A c.(166-168)Gag>Aag p.E56K SLC15A2_uc011bjn.1_Missense_Mutation_p.E56K NM_021082 NP_066568 Q16348 S15A2_HUMAN Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA. 56 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) TGAATTCTGCGAGCGCTTTTC 0.453000 100 8 0 0 1 0 0 SLC30A8 169026 broad.mit.edu 37 8 118183310 118183310 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:118183310G>A uc003yoh.3 + 6 1097 c.867G>A c.(865-867)gaG>gaA p.E289E SLC30A8_uc010mcz.3_Silent_p.E240E|SLC30A8_uc003yog.3_Silent_p.E240E|SLC30A8_uc011lia.2_Silent_p.E240E|SLC30A8_uc022bab.1_Silent_p.E240E NM_173851 NP_001166286 Q8IWU4 ZNT8_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA. 289 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) GTGTGAAAGAGCTTATTTTAG 0.448000 102 6 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40743953 40743953 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:40743953C>T uc002xkg.3 - 21 3169 c.2985G>A c.(2983-2985)gtG>gtA p.V995V PTPRT_uc010ggj.3_Silent_p.V1014V|PTPRT_uc010ggi.3_Silent_p.V198V NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 995 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCACACATTTCACCTGTGGCC 0.512000 75 5 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39913700 39913700 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:39913700G>A uc002hxq.2 - 11 2290 c.2013C>T c.(2011-2013)tcC>tcT p.S671S JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.S671S|JUP_uc002hxs.2_Silent_p.S671S NM_021991 NP_068831 P14923 PLAK_HUMAN Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA. 671 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GCTTGAAGAGGGAGTTGGTGA 0.592000 151 8 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 145051503 145051503 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:145051503G>A uc003qkt.3 + 52 7912 c.7820G>A c.(7819-7821)cGg>cAg p.R2607Q NM_007124 NP_009055 P46939 UTRO_HUMAN Homo sapiens utrophin (UTRN), mRNA. 2607 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GCCCTGAGACGGGAGTTAAAG 0.458000 93 9 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153085343 153085343 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:153085343G>A uc011dcy.2 + 10 1596 c.1569G>A c.(1567-1569)ggG>ggA p.G523G GRIA1_uc003lva.4_Silent_p.G513G|GRIA1_uc003luy.4_Silent_p.G513G|GRIA1_uc003luz.4_Silent_p.G418G|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.G433G|GRIA1_uc011dcx.2_Silent_p.G444G|GRIA1_uc011dcz.2_Silent_p.G523G|GRIA1_uc010jia.1_Silent_p.G493G NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 513 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGAGTTTGGGGATCTCCATCA 0.408000 70 5 0 0 1 0 0 THUMPD3 25917 broad.mit.edu 37 3 9412785 9412785 + Silent SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:9412785C>A uc003bro.4 + 3 520 c.372C>A c.(370-372)ctC>ctA p.L124L LOC440944_uc003brm.3_Intron|THUMPD3_uc003brn.4_Silent_p.L124L NM_001114092 NP_056268 Q9BV44 THUM3_HUMAN Homo sapiens THUMP domain containing 3 (THUMPD3), transcript variant 2, mRNA. 124 RNA binding|methyltransferase activity|protein binding NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 19 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) CTGGAAAACTCCCATGGTCAA 0.323000 95 9 0.00010058 0.000101171 1 1 0 CACNG3 10368 broad.mit.edu 37 16 24358083 24358083 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:24358083C>T uc002dmf.3 + 1 1442 c.240C>T c.(238-240)atC>atT p.I80I NM_006539 NP_006530 O60359 CCG3_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA. 80 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) GCAAGAAAATCGATCACTTCC 0.582000 71 13 0 0 1 0 0 SMR3A 26952 broad.mit.edu 37 4 71232511 71232511 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:71232511C>T uc003hfg.1 + 2 286 c.205C>T c.(205-207)Cca>Tca p.P69S SMR3A_uc011cas.2_Intron NM_012390 NP_036522 Q99954 SMR3A_HUMAN Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA. 69 Pro-rich. extracellular region p.S68S(1) endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) ACCCCTTTCTCCACCCTATGG 0.547000 154 18 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159654316 159654316 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:159654316C>T uc010kjv.3 + 10 2972 c.2772C>T c.(2770-2772)ccC>ccT p.P924P FNDC1_uc010kjw.1_Silent_p.P809P NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA. 924 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GGAAGGAACCCATCCCAGAGA 0.607000 37 5 0 0 1 0 0 XK 7504 broad.mit.edu 37 X 37587601 37587601 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:37587601G>A uc004ddq.3 + 2 1303 c.1221G>A c.(1219-1221)ccG>ccA p.P407P NM_021083 NP_066569 P51811 XK_HUMAN Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA. 407 amino acid transport integral to membrane protein binding|transporter activity breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(315;0.175) CCTGTGAGCCGATAGGAAAGG 0.473000 23 5 0 0 1 0 0 ANKRD33 341405 broad.mit.edu 37 12 52282005 52282005 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:52282005C>T uc001rzd.3 + 0 213 c.35C>T c.(34-36)tCc>tTc p.S12F ANKRD33_uc001rzh.4_Missense_Mutation_p.S12F|ANKRD33_uc001rzf.4_5'UTR|ANKRD33_uc001rze.3_5'UTR|ANKRD33_uc001rzg.4_5'UTR|ANKRD33_uc001rzi.4_5'UTR NM_182608 NP_872414 Q7Z3H0 ANR33_HUMAN Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA. 0 p.S12F(2) endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) TGCGTTGCTTCCTGGGGAGGG 0.607000 174 17 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117710875 117710875 + Missense_Mutation SNP C T T rs140178288 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:117710875C>T uc003pxp.1 - 11 1596 c.1397G>A c.(1396-1398)cGa>cAa p.R466Q ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 466 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GTAAATGATTCGCTTGGCTTG 0.493000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 35 3 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40342471 40342472 + Missense_Mutation DNP GG AT AT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:40342471_40342472GG>AT uc002rrx.3 - 9 2867_2868 c.2843_2844CC>AT c.(2842-2844)tcc>tAT p.S948Y LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.S943Y|SLC8A1_uc002rsb.2_Missense_Mutation_p.S940Y|SLC8A1_uc002rrz.3_Missense_Mutation_p.S935Y|SLC8A1_uc002rsa.3_Missense_Mutation_p.S912Y|SLC8A1_uc002rsd.4_Missense_Mutation_p.S912Y NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 948 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CAAAGAGGCAGGATGTGAGGAG 0.510000 80 12 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29162098 29162098 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:29162098C>T uc002hfs.1 + 1 1342 c.999C>T c.(997-999)ccC>ccT p.P333P ATAD5_uc002hft.1_Silent_p.P230P NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA. 333 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) CTATTCCGCCCAAAAAGACAG 0.373000 75 6 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404131 20404131 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:20404131C>T uc001vwj.2 + 0 365 c.306C>T c.(304-306)ttC>ttT p.F102F NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA. 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) CCCAGATATTCGTTCTTCACA 0.413000 56 6 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81112695 81112695 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:81112695G>A uc001szg.2 + 2 768 c.633G>A c.(631-633)gtG>gtA p.V211V NM_005593 NP_005584 P13349 MYF5_HUMAN Homo sapiens myogenic factor 5 (MYF5), mRNA. 211 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity p.V211L(1) central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 CCAACATAGTGGACCGGATCA 0.473000 110 10 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518660 113518660 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:113518660C>T uc010ljy.1 - 3 2518 c.2487G>A c.(2485-2487)agG>agA p.R829R NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 829 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CATGTGTCTTCCTAGGATTGT 0.368000 110 4 0 0 1 0 0 KCNJ6 3763 broad.mit.edu 37 21 39212969 39212969 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:39212969C>T uc011aej.1 - 1 69 c.16G>A c.(16-18)Gaa>Aaa p.E6K KCNJ6_uc002ywo.2_Missense_Mutation_p.E6K NM_002240 NP_002231 P48051 IRK6_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA. 6 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) CTCATGGATTCTGTCAGCTTG 0.343000 275 18 0 0 1 0 0 MARCH8 220972 broad.mit.edu 37 10 45953816 45953816 + Missense_Mutation SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:45953816A>C uc001jci.1 - 6 986 c.747T>G c.(745-747)atT>atG p.I249M MARCH8_uc001jch.2_Missense_Mutation_p.I531M|MARCH8_uc001jcj.1_Missense_Mutation_p.I249M|MARCH8_uc001jck.1_Missense_Mutation_p.I249M|DL492557_uc001jcf.3_5'Flank|MARCH8_uc001jcg.1_Missense_Mutation_p.I118M NM_001002266 NP_659458 Q5T0T0 MARH8_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 8 (MARCH8), transcript variant 7, mRNA. 249 cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 12 ATTTTTCAAAAATATTCTTTT 0.368000 118 9 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120776035 120776035 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:120776035G>A uc001pxn.2 + 12 1596 c.1309G>A c.(1309-1311)Gag>Aag p.E437K GRIK4_uc009zav.1_Missense_Mutation_p.E437K|GRIK4_uc009zaw.1_Missense_Mutation_p.E437K|GRIK4_uc009zax.1_Missense_Mutation_p.E437K NM_014619 NP_055434 Q16099 GRIK4_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA. 437 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GAACCACCAGGAGATGGAAGG 0.542000 302 17 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77389842 77389842 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:77389842G>A uc002ffc.4 - 8 1874 c.1455C>T c.(1453-1455)ttC>ttT p.F485F ADAMTS18_uc010chc.1_Silent_p.F73F|ADAMTS18_uc002ffe.1_Silent_p.F181F|ADAMTS18_uc010vni.1_Non-coding_Transcript NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 485 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CATACCTGAGGAATTTCTTGA 0.473000 72 6 0 0 1 0 0 RNF220 55182 broad.mit.edu 37 1 44878025 44878025 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:44878025C>T uc001clv.1 + 1 616 c.256C>T c.(256-258)Cgt>Tgt p.R86C RNF220_uc001clw.1_Missense_Mutation_p.R86C NM_018150 NP_060620 Q5VTB9 RN220_HUMAN Homo sapiens ring finger protein 220 (RNF220), mRNA. 86 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding p.R86L(1) endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 TTTTGCCAATCGTGATTTCCC 0.507000 495 53 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94079155 94079155 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:94079155C>T uc001ybv.1 + 24 3385 c.3302C>T c.(3301-3303)cCt>cTt p.P1101L UNC79_uc001ybs.1_Missense_Mutation_p.P1079L NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 1256 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CAACAATCTCCTGAGAATGAC 0.483000 125 10 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186697847 186697847 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:186697847G>A uc002upl.3 + 22 20885 c.20885G>A c.(20884-20886)gGa>gAa p.G6962E FSIP2_uc002upm.3_Non-coding_Transcript NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TCCAAACAAGGATCTAAAATG 0.378000 43 6 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146350776 146350776 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:146350776G>A uc010khw.1 + 1 593 c.123G>A c.(121-123)atG>atA p.M41I GRM1_uc010khu.1_Missense_Mutation_p.M41I|GRM1_uc010khv.1_Missense_Mutation_p.M41I|GRM1_uc003qll.2_Missense_Mutation_p.M41I|GRM1_uc011edz.1_Missense_Mutation_p.M41I|GRM1_uc011eea.1_Missense_Mutation_p.M41I NM_000838 NP_000829 Q13255 GRM1_HUMAN Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA. 41 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TGGCCAGAATGGACGGAGATG 0.587000 127 14 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248759 20248759 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:20248759C>T uc010tku.2 + 0 278 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S93S(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AAGATAATTTCCTTTGGTGGA 0.448000 213 20 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32178660 32178660 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:32178660G>A uc003obb.3 - 17 2873 c.2734C>T c.(2734-2736)Ccc>Tcc p.P912S NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 912 EGF-like 23. Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AAATAGGAGGGGCCGCTGTCG 0.592000 34 4 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147381247 147381247 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:147381247G>A uc021ovm.1 + 0 1165 c.1165G>A c.(1165-1167)Gag>Aag p.E389K GJA8_uc001epu.2_Missense_Mutation_p.E389K NM_005267 NP_005258 P48165 CXA8_HUMAN Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA. 389 cell communication|visual perception connexon complex|integral to plasma membrane channel activity p.E389K(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) GCCGCAGTCGGAGAAGGTGTC 0.577000 24 4 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169644815 169644815 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:169644815C>T uc003fgd.3 + 5 1032 c.765C>T c.(763-765)ctC>ctT p.L255L SAMD7_uc003fge.3_Silent_p.L255L|SAMD7_uc011bpo.2_Silent_p.L156L NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 255 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GTGGAGAGCTCGAGCCCACCC 0.517000 83 6 0 0 1 0 0 MKRN1 23608 broad.mit.edu 37 7 140156541 140156541 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:140156541G>A uc003vvt.2 - 4 1122 c.897C>T c.(895-897)ttC>ttT p.F299F MKRN1_uc003vvs.2_Silent_p.F235F|MKRN1_uc011krd.1_Silent_p.F33F|MKRN1_uc003vvv.4_Silent_p.F299F|MKRN1_uc003vvu.4_Silent_p.F235F NM_013446 NP_038474 Q9UHC7 MKRN1_HUMAN Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA. 299 ligase activity|nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) AGAGGATCCCGAAGCGGCGCT 0.527000 121 15 0 0 1 0 0 CDCP2 200008 broad.mit.edu 37 1 54606818 54606818 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:54606818G>A uc001cwv.1 - 2 1564 c.716C>T c.(715-717)tCc>tTc p.S239F NM_201546 NP_963840 Q5VXM1 CDCP2_HUMAN Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA. 239 CUB 2. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 GTTGAAGTCGGACTTGAAGAC 0.647000 52 4 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16577850 16577850 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:16577850G>A uc001ayg.3 - 9 1685 c.1469C>T c.(1468-1470)cCa>cTa p.P490L FBXO42_uc001ayf.3_Missense_Mutation_p.P397L NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN Homo sapiens F-box protein 42 (FBXO42), mRNA. 490 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) TTTCTGATCTGGTAGTGATCC 0.473000 64 11 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112175434 112175435 + Missense_Mutation DNP AC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:112175434_112175435AC>TT uc003kpz.4 + 16 4336_4337 c.4143_4144AC>TT c.(4141-4146)ccactc>ccTTtc p.L1382F APC_uc011cvt.2_Missense_Mutation_p.L1364F|APC_uc003kpy.4_Missense_Mutation_p.L1382F|APC_uc010jbz.3_Missense_Mutation_p.L1099F|APC_uc010jca.3_Missense_Mutation_p.L682F NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 1382 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.L1382fs*4(5)|p.L1382fs*33(2)|p.P1381S(2)|p.?(1)|p.K1192fs*3(1)|p.P1381fs*4(1)|p.Y1376fs*41(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AGGAGACCCCACTCATGTTTAG 0.465000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 66 4 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100365543 100365543 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:100365543G>A uc003uwj.3 + 25 5115 c.4950G>A c.(4948-4950)acG>acA p.T1650T ZAN_uc003uwk.3_Silent_p.T1650T|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Silent_p.T227T NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 1650 VWFD 2. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane 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) TCCTCTACACGAACTTTGGGC 0.602000 54 4 0 0 1 0 0 AKT1 207 broad.mit.edu 37 14 105241278 105241278 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:105241278G>A uc001ypk.3 - 6 1184 c.630C>T c.(628-630)ctC>ctT p.L210L AKT1_uc001ypl.3_Silent_p.L210L|AKT1_uc010axa.3_Silent_p.L210L|AKT1_uc001ypm.3_Silent_p.L210L|AKT1_uc001ypn.3_Silent_p.L210L|AKT1_uc010tyk.2_Silent_p.L148L NM_005163 NP_005154 P31749 AKT1_HUMAN Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA. 210 Protein kinase. G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) CACTCACTGTGAGGAAGGGGT 0.647000 1 Mis """breast, colorectal, ovarian, NSCLC""" 70 5 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87725382 87725382 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:87725382C>T uc003pli.3 + 1 1033 c.330C>T c.(328-330)atC>atT p.I110I HTR1E_uc021zcg.1_Silent_p.I110I NM_000865 NP_000856 P28566 5HT1E_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA. 110 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CCTGCTCCATCCTCCACCTCT 0.562000 100 12 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84417585 84417585 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:84417585G>A uc021zcf.1 - 0 92 c.62C>T c.(61-63)gCt>gTt p.A21V SNAP91_uc003pka.3_Missense_Mutation_p.A21V|SNAP91_uc011dze.2_Missense_Mutation_p.A21V|SNAP91_uc003pkc.3_Missense_Mutation_p.A21V|SNAP91_uc003pkd.3_Missense_Mutation_p.A21V|SNAP91_uc003pkb.3_5'UTR|SNAP91_uc011dzf.1_5'UTR NM_014841 NP_055656 O60641 AP180_HUMAN Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA. 21 ENTH. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) TCTTGCTACAGCAGAGCCTGT 0.542000 57 5 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50255931 50255931 + Missense_Mutation SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:50255931T>G uc002xwg.1 - 14 1619 c.1619A>C c.(1618-1620)cAg>cCg p.Q540P ATP9A_uc010gih.1_Missense_Mutation_p.Q404P|ATP9A_uc002xwf.1_Intron NM_006045 NP_006036 O75110 ATP9A_HUMAN Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA. 540 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 AGGGAAGATCTGTAGGATGGT 0.522000 OREG0026043 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 135 17 0 0 1 0 0 RAC1 5879 broad.mit.edu 37 7 6426892 6426892 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:6426892C>T uc003spx.3 + 1 326 c.85C>T c.(85-87)Cct>Tct p.P29S RAC1_uc003spw.3_Missense_Mutation_p.P29S|RAC1_uc021zzg.1_5'UTR NM_006908 NP_008839 P63000 RAC1_HUMAN Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA. 29 T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding p.P29S(2) cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) CAATGCATTTCCTGGAGAATA 0.353000 133 24 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112522872 112522872 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:112522872T>A uc003pvu.2 - 4 749 c.440A>T c.(439-441)tAt>tTt p.Y147F LAMA4_uc003pvv.2_Missense_Mutation_p.Y147F|LAMA4_uc003pvt.2_Missense_Mutation_p.Y147F NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA. 147 Laminin EGF-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ATTTTTCCTATAGCAGGATTC 0.358000 234 17 0 0 1 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24565605 24565605 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:24565605C>T uc002wtw.1 + 2 1227 c.594C>T c.(592-594)atC>atT p.I198I NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA. 198 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 CTCTGGGCATCGCAGCCTTCT 0.617000 128 11 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3900298 3900298 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:3900298C>T uc002cvv.3 - 2 1002 c.798_splice c.e2+1 p.K266_splice CREBBP_uc002cvw.3_Splice_Site_p.K266_splice NM_004380 NP_004371 Q92793 CBP_HUMAN Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA. 266 Interaction with SRCAP. Breakpoint for translocation to form MYST3-CREBBP. N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia cytoplasm|nuclear body MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GTTCACTTACCTTGGCCATGC 0.572000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 147 20 0 0 1 0 0 ATP9B 374868 broad.mit.edu 37 18 77104307 77104307 + Nonsense_Mutation SNP C T T rs147932692 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:77104307C>T uc002lmx.3 + 20 2439 c.2425C>T c.(2425-2427)Cga>Tga p.R809* ATP9B_uc002lmw.1_Nonsense_Mutation_p.R809*|ATP9B_uc002lmz.1_Nonsense_Mutation_p.R503*|ATP9B_uc002lna.3_5'UTR|ATP9B_uc002lnb.1_5'Flank NM_198531 NP_940933 O43861 ATP9B_HUMAN Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA. 809 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) GAATGCATTTCGAAGGAAGCA 0.473000 60 13 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70148320 70148320 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:70148320C>T uc003hej.3 + 1 812 c.810C>T c.(808-810)ttC>ttT p.F270F UGT2B28_uc010ihr.3_Silent_p.F270F NM_053039 NP_444267 Q9BY64 UDB28_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA. 270 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) CTCATCCATTCTTACCAAACA 0.413000 135 8 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9546694 9546694 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:9546694C>T uc002wnl.2 - 5 1873 c.1328G>A c.(1327-1329)gGa>gAa p.G443E PAK7_uc002wnk.2_Missense_Mutation_p.G443E|PAK7_uc002wnj.2_Missense_Mutation_p.G443E|PAK7_uc010gby.1_Missense_Mutation_p.G443E NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 443 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CCTGGGGTCTCCTGGGCTGAC 0.607000 131 8 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169487738 169487738 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:169487738G>A uc001ggg.1 - 22 6402 c.6257C>T c.(6256-6258)tCg>tTg p.S2086L NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 2086 F5/8 type C 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity p.S2086L(2) NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TTTCTTAAACGAAGAAGCTGT 0.448000 23 3 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5021123 5021123 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:5021123G>A uc001qnh.3 + 1 1684 c.579G>A c.(577-579)aaG>aaA p.K193K KCNA1_uc021qts.1_Silent_p.K193K NM_000217 NP_000208 Q09470 KCNA1_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA. 193 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CCGAGCTGAAGGATGACAAGG 0.577000 60 7 0 0 1 0 0 mir-34 0 broad.mit.edu 37 1 9211851 9211851 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:9211851G>A uc009vmq.3 - 1 430 c.324C>T c.(322-324)tcC>tcT p.S108S mir-34_uc021ofw.1_5'Flank Homo sapiens microRNA mir-34. CACGGCATCCGGAGGGGACTC 0.557000 128 15 0 0 1 0 0 SLC36A2 153201 broad.mit.edu 37 5 150696648 150696648 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:150696648G>A uc003lty.3 - 10 1311 c.1181_splice c.e10-1 p.C394_splice SLC36A2_uc003ltz.3_Splice_Site|SLC36A2_uc003lua.3_Splice_Site_p.C196_splice NM_181776 NP_861441 Q495M3 S36A2_HUMAN Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA. 394 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGCCAGGAGGCCTGCAGGGA 0.602000 35 3 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74824910 74824910 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:74824910G>A uc021rwl.1 + 0 1424 c.1424G>A c.(1423-1425)tGg>tAg p.W475* VRTN_uc001xpw.4_Nonsense_Mutation_p.W475* NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA. 475 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 GTAATTCCTTGGAAGAGTGAG 0.652000 90 8 0 0 1 0 0 CXorf57 55086 broad.mit.edu 37 X 105876359 105876359 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:105876359G>A uc004emi.4 + 6 1332 c.1181_splice c.e6-1 p.E394_splice CXorf57_uc004emj.4_Splice_Site_p.E394_splice|CXorf57_uc004emh.2_Splice_Site_p.E394_splice NM_018015 NP_060485 Q6NSI4 CX057_HUMAN Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA. 394 E -> K (in Ref. 3; AAH54032). NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 31 TATCCATATAGAAAACCGTGA 0.303000 32 6 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37153556 37153556 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:37153556T>C uc002xiw.3 + 10 2012 c.1755T>C c.(1753-1755)ttT>ttC p.F585F RALGAPB_uc010zvz.1_3'UTR|RALGAPB_uc002xix.3_Silent_p.F585F|RALGAPB_uc002xiy.1_Silent_p.F585F|RALGAPB_uc002xiz.3_Silent_p.F363F|RALGAPB_uc002xja.1_Silent_p.F312F NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA. 585 activation of Ral GTPase activity intracellular Ral GTPase activator activity|protein heterodimerization activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TTCCTTACTTTATTTCAGCTC 0.433000 146 15 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161173178 161173178 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:161173178C>T uc003qtm.4 + 17 2269 c.2157C>T c.(2155-2157)gcC>gcT p.A719A NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 719 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TCAAGGAAGCCCAGCTCCCTG 0.468000 42 4 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40061578 40061578 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:40061578C>T uc003ayc.3 + 21 3927 c.3927C>T c.(3925-3927)atC>atT p.I1309I CACNA1I_uc003ayd.3_Silent_p.I1274I|CACNA1I_uc003aye.3_Silent_p.I1224I|CACNA1I_uc003ayf.3_Silent_p.I1189I NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 1309 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TCGGCAACATCGTGCTCATCT 0.622000 79 13 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1092139 1092139 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:1092139G>A uc001lsx.1 + 29 3985 c.3958G>A c.(3958-3960)Gac>Aac p.D1320N NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 1320 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TGGCAGCGACGACGGTGACCG 0.592000 39 3 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553242 140553242 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140553242G>A uc003lit.3 + 0 1000 c.826G>A c.(826-828)Gaa>Aaa p.E276K NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 276 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGTAATGGGGAAATAGCCTA 0.458000 114 7 0 0 1 0 0 PTGFR 5737 broad.mit.edu 37 1 79002119 79002119 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:79002119G>A uc001din.3 + 2 1093 c.827G>A c.(826-828)gGa>gAa p.G276E PTGFR_uc001dim.3_3'UTR NM_000959 NP_000950 P43088 PF2R_HUMAN Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA. 276 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) GGAATAAATGGAAATCATTCT 0.343000 47 16 0 0 1 0 0 MYF6 4618 broad.mit.edu 37 12 81102693 81102693 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:81102693C>T uc001szf.2 + 2 774 c.683C>T c.(682-684)tCg>tTg p.S228L NM_002469 NP_002460 P23409 MYF6_HUMAN Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA. 228 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 AGTATTTCCTCGGAGGAACGC 0.522000 62 8 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86258545 86258545 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:86258545C>T uc002sqs.3 - 29 4865 c.4486G>A c.(4486-4488)Gag>Aag p.E1496K POLR1A_uc010ytb.2_Missense_Mutation_p.E862K NM_015425 NP_056240 O95602 RPA1_HUMAN Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA. 1496 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding p.P1495P(1) NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 TCCATGGCCTCGGGCCCCTGG 0.652000 165 19 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77170834 77170834 + Missense_Mutation SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:77170834T>G uc010xfg.2 + 1 1012 c.559T>G c.(559-561)Tcc>Gcc p.S187A NFATC1_uc002lnc.1_Missense_Mutation_p.S187A|NFATC1_uc010xff.1_Missense_Mutation_p.S187A|NFATC1_uc002lnd.3_Missense_Mutation_p.S187A|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.S187A|NFATC1_uc010xfi.1_Missense_Mutation_p.S174A|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.S174A|NFATC1_uc002lng.3_Missense_Mutation_p.S174A|NFATC1_uc010xfk.2_Missense_Mutation_p.S174A NM_006162 NP_006153 O95644 NFAC1_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA. 187 Trans-activation domain A (TAD-A). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CTCAGAGGCCTCCTCCTACGA 0.677000 143 13 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28913665 28913665 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:28913665C>T uc002kwp.3 + 6 1010 c.798C>T c.(796-798)atC>atT p.I266I NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 266 Cadherin 2. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ATGATAATATCCCTTACATGG 0.393000 65 6 0 0 1 0 0 CD5 921 broad.mit.edu 37 11 60886789 60886789 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:60886789G>A uc009ynk.3 + 4 650 c.547G>A c.(547-549)Ggt>Agt p.G183S NM_014207 NP_055022 P06127 CD5_HUMAN Homo sapiens CD5 molecule (CD5), mRNA. 183 SRCR 2. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) CAGCCTGGGGGGTACCATCAG 0.617000 90 10 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141773430 141773430 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:141773430C>T uc002tvj.1 - 12 2997 c.2025G>A c.(2023-2025)agG>agA p.R675R LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 675 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCTTCTCAATCCTTCCCACGC 0.403000 TSP Lung(27;0.18) 79 6 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29885663 29885663 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:29885663G>A uc003afo.3 + 3 2105 c.2034G>A c.(2032-2034)gaG>gaA p.E678E KIAA0845_uc003afp.3_5'UTR NM_021076 NP_066554 P12036 NFH_HUMAN Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA. 684 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 AGTCCCCTGAGAAGGCCAAGT 0.572000 162 16 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72829798 72829798 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:72829798G>A uc002fck.3 - 8 7456 c.6783C>T c.(6781-6783)ttC>ttT p.F2261F ZFHX3_uc002fcl.3_Silent_p.F1347F NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 2261 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CATTGGCATCGAAGAAGTCCT 0.493000 257 24 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823168 38823168 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:38823168C>T uc003avs.1 - 1 1067 c.970G>A c.(970-972)Gag>Aag p.E324K KCNJ4_uc003avt.1_Missense_Mutation_p.E324K|KCNJ4_uc021wpp.1_Missense_Mutation_p.E324K NM_004981 NP_690607 P48050 IRK4_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA. 324 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex PDZ domain binding|inward rectifier potassium channel activity endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) CTCTTCTCCTCGAAGACCACA 0.642000 41 5 0 0 1 0 0 KRT72 140807 broad.mit.edu 37 12 52992771 52992771 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:52992771C>T uc001sar.2 - 1 638 c.552G>A c.(550-552)caG>caA p.Q184Q KRT72_uc001saq.2_Silent_p.Q184Q|KRT72_uc010sns.1_Silent_p.Q184Q|KRT72_uc010snt.1_5'UTR NM_001146225 NP_542785 Q14CN4 K2C72_HUMAN Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA. 184 Coil 1B.|Rod. keratin filament structural molecule activity p.L183L(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) CCAGCTGCTTCTGCAGGTTGC 0.542000 235 14 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 94617 94617 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:94617G>A uc001ifi.2 - 2 215 c.215C>T c.(214-216)aCc>aTc p.T72I NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA. 72 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) AGAGTCCATGGTGCCCGGCTC 0.697000 100 11 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61815657 61815657 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:61815657C>T uc001jky.3 - 41 13162 c.12824G>A c.(12823-12825)gGa>gAa p.G4275E ANK3_uc001jkw.3_Missense_Mutation_p.G899E|ANK3_uc009xpa.3_Missense_Mutation_p.G899E|ANK3_uc001jkx.3_Missense_Mutation_p.G943E|ANK3_uc010qih.2_Missense_Mutation_p.G1766E|ANK3_uc001jkz.4_Missense_Mutation_p.G1759E|ANK3_uc001jkv.3_Missense_Mutation_p.G298E NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 4275 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ACTCTGTTTTCCTACATCATT 0.388000 139 12 0 0 1 0 0 MAPK9 5601 broad.mit.edu 37 5 179688771 179688771 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:179688771C>T uc003mls.4 - 4 634 c.363G>A c.(361-363)atG>atA p.M121I MAPK9_uc003mlv.4_Missense_Mutation_p.M121I|MAPK9_uc003mlt.4_Missense_Mutation_p.M121I|MAPK9_uc010jlc.3_Missense_Mutation_p.M121I|MAPK9_uc021yji.1_Missense_Mutation_p.M95I|MAPK9_uc021yjj.1_Missense_Mutation_p.M121I|MAPK9_uc021yjk.1_Missense_Mutation_p.M121I|MAPK9_uc021yjl.1_Missense_Mutation_p.M121I|MAPK9_uc011dgx.2_Missense_Mutation_p.M121I NM_002752 NP_002743 P45984 MK09_HUMAN Homo sapiens mitogen-activated protein kinase 9 (MAPK9), transcript variant JNK2-a2, mRNA. 121 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GATCCAGCTCCATGTGAATAA 0.358000 212 22 0 0 1 0 0 KCNE2 9992 broad.mit.edu 37 21 35742925 35742925 + Missense_Mutation SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:35742925A>C uc021wis.1 + 0 148 c.148A>C c.(148-150)Atc>Ctc p.I50L KCNE2_uc002ytt.1_Missense_Mutation_p.I50L NM_172201 NP_751951 Q9Y6J6 KCNE2_HUMAN Homo sapiens potassium voltage-gated channel, Isk-related family, member 2 (KCNE2), mRNA. 50 blood circulation|muscle contraction|regulation of heart contraction lysosome|voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(1) 2 CTACTATGTCATCCTGTACCT 0.458000 78 9 0 0 1 0 0 CDH24 64403 broad.mit.edu 37 14 23519086 23519086 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:23519086G>A uc001wil.3 - 9 1804 c.1544C>T c.(1543-1545)cCc>cTc p.P515L CDH24_uc010akf.3_Missense_Mutation_p.P477L NM_022478 NP_071923 Q86UP0 CAD24_HUMAN Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA. 515 Cadherin 4. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) AGCCAGCTGGGGAGCATTGTC 0.582000 71 6 0 0 1 0 0 SLC2A4 6517 broad.mit.edu 37 17 7189140 7189140 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:7189140G>A uc002gfp.3 + 9 1439 c.1239G>A c.(1237-1239)caG>caA p.Q413Q SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Silent_p.Q403Q NM_001042 NP_001033 P14672 GTR4_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA. 413 carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 TCTTCAGCCAGGGACCCCGCC 0.577000 73 7 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585683 82585683 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:82585683C>T uc003uhx.2 - 4 4875 c.4586G>A c.(4585-4587)cGa>cAa p.R1529Q PCLO_uc003uhv.2_Missense_Mutation_p.R1529Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1460 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R1460L(1)|p.R1529L(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ACTAGTTCTTCGTTTTCTTTG 0.398000 23 7 0 0 1 0 0 MIB2 142678 broad.mit.edu 37 1 1560431 1560431 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:1560431G>A uc001agg.3 + 5 977 c.932G>A c.(931-933)cGg>cAg p.R311Q MIB2_uc001agh.3_Missense_Mutation_p.R297Q|MIB2_uc001agi.3_Missense_Mutation_p.R311Q|MIB2_uc001agj.3_Missense_Mutation_p.R95Q|MIB2_uc001agk.3_Intron|MIB2_uc001agl.2_Missense_Mutation_p.R210Q|MIB2_uc001agm.3_Intron|MIB2_uc010nyq.2_Missense_Mutation_p.R210Q|MIB2_uc009vkh.3_Missense_Mutation_p.R95Q|MIB2_uc001agn.3_5'UTR NM_080875 NP_543151 Q96AX9 MIB2_HUMAN Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA. 254 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GAGACAGGCCGGAGTGTGGCC 0.657000 117 19 0 0 1 0 0 CD300LG 146894 broad.mit.edu 37 17 41931180 41931180 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:41931180C>T uc002iem.3 + 3 556 c.487C>T c.(487-489)Cct>Tct p.P163S CD300LG_uc002iel.2_Intron|CD300LG_uc010czk.3_Missense_Mutation_p.P163S|CD300LG_uc010wil.2_Missense_Mutation_p.P129S|CD300LG_uc010czl.3_Intron NM_145273 NP_660316 Q6UXG3 CLM9_HUMAN Homo sapiens CD300 molecule-like family member g (CD300LG), transcript variant 1, mRNA. 163 apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) TGTAGCTTCTCCTGGGCTCTA 0.607000 43 5 0 0 1 0 0 PRAMEF8 391002 broad.mit.edu 37 1 12979775 12979775 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:12979775G>A uc001aup.3 + 3 1050 c.967G>A c.(967-969)Gag>Aag p.E323K NM_001012276 NP_001012277 Q5VWM4 PRAM8_HUMAN Homo sapiens PRAME family member 8 (PRAMEF8), mRNA. 323 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCAATTAAAGGAGCTGGACCT 0.577000 179 10 0 0 1 0 0 DNASE1L3 1776 broad.mit.edu 37 3 58186759 58186759 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:58186759C>T uc003djo.1 - 4 608 c.511G>A c.(511-513)Gtc>Atc p.V171I DNASE1L3_uc011bfd.1_Missense_Mutation_p.V141I|DNASE1L3_uc003djp.1_Missense_Mutation_p.V171I|DNASE1L3_uc003djq.1_Missense_Mutation_p.V171I NM_004944 NP_004935 Q13609 DNSL3_HUMAN Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA. 171 DNA catabolic process|apoptosis nucleus DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) TCCGTGTAGACCTCAACCAAC 0.557000 316 22 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144098981 144098981 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:144098981C>T uc022aoj.1 - 2 273 c.273G>A c.(271-273)ggG>ggA p.G91G NM_001080413 NP_001073882 O60393 NOBOX_HUMAN Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA. 91 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) GTTCCCTTTTCCCAGACACCA 0.458000 69 8 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152847286 152847286 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:152847286C>T uc021zhb.1 - 2 377 c.154G>A c.(154-156)Gat>Aat p.D52N SYNE1_uc003qot.4_Missense_Mutation_p.D52N|SYNE1_uc003qou.4_Missense_Mutation_p.D52N|SYNE1_uc010kjb.1_Missense_Mutation_p.D52N|SYNE1_uc003qpa.1_Missense_Mutation_p.D52N NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 52 Actin-binding.|CH 1. Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere 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) TCAAAAAGATCGTCCACCACC 0.423000 HNSCC(10;0.0054) 68 5 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23872633 23872633 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:23872633C>T uc001wjv.3 - 9 893 c.822G>A c.(820-822)gtG>gtA p.V274V MYH6_uc010akp.2_Silent_p.V274V NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 274 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GCTGGAAGATCACCCGGGACT 0.567000 201 14 0 0 1 0 0 SDS 10993 broad.mit.edu 37 12 113831782 113831782 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:113831782C>T uc001tvg.3 - 6 815 c.693G>A c.(691-693)caG>caA p.Q231Q NM_006843 NP_006834 P20132 SDHL_HUMAN Homo sapiens serine dehydratase (SDS), mRNA. 231 L-serine catabolic process|gluconeogenesis|pyruvate biosynthetic process cytoplasm L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1) 11 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GCTTCAGGGCCTGAGCCCCCA 0.582000 78 8 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48915276 48915276 + Nonsense_Mutation SNP G A A rs121912524 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:48915276G>A uc002rwu.4 - 10 1730 c.1660C>T c.(1660-1662)Cga>Tga p.R554* STON1-GTF2A1L_uc021vhf.1_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA. 554 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity p.R554*(4) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TCTGGGTTTCGAACTGCAAAA 0.368000 73 5 0 0 1 0 0 C15orf42 90381 broad.mit.edu 37 15 90164656 90164656 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:90164656C>T uc002boe.3 + 18 3187 c.3187C>T c.(3187-3189)Cgg>Tgg p.R1063W C15orf42_uc021sug.1_Missense_Mutation_p.R1062W NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA. 1063 DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 59 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) CCAAAGTATTCGGTCTCCCAA 0.388000 76 5 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152579986 152579986 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:152579986T>C uc021vrb.1 - 6 656 c.627A>G c.(625-627)gaA>gaG p.E209E NEB_uc002txu.3_Silent_p.E209E|NEB_uc021vrc.1_Silent_p.E209E|NEB_uc010fnx.3_Silent_p.E209E|NEB_uc021vrd.1_Silent_p.E209E NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 209 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle p.E209*(1) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTTCCCAGTCTTCAGTGTACA 0.393000 9 2 0 0 1 0 0 ZNF566 84924 broad.mit.edu 37 19 36940040 36940040 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:36940040G>A uc010xtf.2 - 4 1234 c.1099C>T c.(1099-1101)Ccc>Tcc p.P367S ZNF566_uc002oea.4_Missense_Mutation_p.P366S|ZNF566_uc010xte.2_Missense_Mutation_p.P366S|ZNF566_uc002oeb.4_Missense_Mutation_p.P366S|ZNF566_uc002oec.4_Missense_Mutation_p.P262S|ZNF566_uc010xtg.2_Missense_Mutation_p.P262S NM_001145343 NP_001138815 Q969W8 ZN566_HUMAN Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA. 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) CATTCATAGGGTTTCTCCCCA 0.393000 53 11 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 120382599 120382599 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:120382599C>T uc003vjj.1 + 3 2375 c.1410C>T c.(1408-1410)tcC>tcT p.S470S NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA. 470 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) TTAGCAAATCCGGCTCCAGCT 0.478000 123 9 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197070718 197070718 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:197070718T>C uc001gtu.3 - 17 7920 c.7663A>G c.(7663-7665)Aaa>Gaa p.K2555E ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Missense_Mutation_p.K403E NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA. 2555 IQ 27. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 ATAGAAGCTTTGTGTTTTTCC 0.338000 26 4 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869720 36869720 + Silent SNP G A A rs147347811 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:36869720G>A uc002xhy.1 - 2 1085 c.813C>T c.(811-813)ttC>ttT p.F271F KIAA1755_uc002xhz.1_Silent_p.F271F NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN Homo sapiens KIAA1755 (KIAA1755), mRNA. 271 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) AGTCTCCCTCGAAGTCCTGGC 0.582000 130 9 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35691242 35691242 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:35691242C>T uc003jjo.3 + 10 1739 c.1628C>T c.(1627-1629)tCt>tTt p.S543F SPEF2_uc003jjq.4_Missense_Mutation_p.S543F|SPEF2_uc003jjp.1_Missense_Mutation_p.S34F NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 543 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCTGAAAAATCTCTTCCTCCT 0.413000 108 7 0 0 1 0 0 SLC22A7 10864 broad.mit.edu 37 6 43269343 43269343 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:43269343G>A uc021yzt.1 + 6 1073 c.974G>A c.(973-975)gGg>gAg p.G325E SLC22A7_uc010jyl.1_Missense_Mutation_p.G326E|SLC22A7_uc003ous.3_Missense_Mutation_p.G323E|SLC22A7_uc003out.3_Missense_Mutation_p.G323E NM_153320 NP_696961 Q9Y694 S22A7_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA. 325 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity p.G325W(2)|p.A324T(1) NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) GTGGCCGCCGGGGAACGGGTG 0.587000 51 4 0 0 1 0 0 MFSD6 54842 broad.mit.edu 37 2 191301865 191301865 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:191301865C>T uc002urz.2 + 2 1434 c.1110C>T c.(1108-1110)atC>atT p.I370I NM_017694 NP_060164 Q6ZSS7 MFSD6_HUMAN Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA. 370 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1) 23 ATTACCAGATCGTCTTCATCG 0.517000 35 3 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105378019 105378019 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:105378019G>A uc003dwc.3 - 18 3066 c.2744C>T c.(2743-2745)cCa>cTa p.P915L CBLB_uc003dwa.3_Missense_Mutation_p.P130L|CBLB_uc011bhi.2_Missense_Mutation_p.P893L NM_170662 NP_733762 Q13191 CBLB_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA. 915 Interaction with SH3KBP1.|Pro-rich. NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 GTGAATTTCTGGTGCAGTCCT 0.458000 Mis S AML 59 4 0 0 1 0 0 HELLS 3070 broad.mit.edu 37 10 96354526 96354526 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:96354526C>T uc009xuo.3 + 19 2406 c.2301C>T c.(2299-2301)cgC>cgT p.R767R HELLS_uc001kjs.3_Silent_p.R705R|HELLS_uc001kjt.3_Silent_p.R721R|HELLS_uc009xul.3_Silent_p.R623R|HELLS_uc009xum.3_Silent_p.R591R|HELLS_uc009xun.3_Silent_p.R597R|HELLS_uc001kju.3_Silent_p.R360R|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Silent_p.R583R|HELLS_uc009xur.3_Non-coding_Transcript NM_018063 NP_060533 Q9NRZ9 HELLS_HUMAN Homo sapiens helicase, lymphoid-specific (HELLS), mRNA. 721 Helicase C-terminal. cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) TTGTTTATCGCCTTGTTACAG 0.358000 48 4 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74043123 74043123 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:74043123G>A uc002sjr.1 + 2 1894 c.1773G>A c.(1771-1773)ggG>ggA p.G591G NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA. 591 Lys-rich. cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 AGCAGTCAGGGAAAAAAGTCA 0.438000 43 3 0 0 1 0 0 ZNF559 84527 broad.mit.edu 37 19 9453161 9453161 + Missense_Mutation SNP G A A rs138021555 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9453161G>A uc002mle.4 + 5 1633 c.1226G>A c.(1225-1227)cGa>cAa p.R409Q ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Missense_Mutation_p.R303Q|ZNF559_uc010xkn.2_Missense_Mutation_p.R337Q|ZNF559_uc021uok.1_Missense_Mutation_p.R345Q|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron NM_001202406 NP_001189335 Q9BR84 ZN559_HUMAN Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA. 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R345Q(2) endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 AAACACAGGCGAACTCACACT 0.413000 44 5 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71752379 71752379 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:71752379G>A uc003kce.1 - 2 1562 c.1376C>T c.(1375-1377)aCc>aTc p.T459I NM_152625 NP_689838 Q8N895 ZN366_HUMAN Homo sapiens zinc finger protein 366 (ZNF366), mRNA. 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GGCCAGCAGGGTGAACTCCCG 0.537000 221 25 0 0 1 0 0 ZNF548 147694 broad.mit.edu 37 19 57910946 57910946 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:57910946C>T uc002qon.3 + 3 1577 c.1327C>T c.(1327-1329)Cgt>Tgt p.R443C ZNF548_uc002qom.3_Missense_Mutation_p.R431C|ZNF17_uc021vck.1_Intron NM_001172773 NP_001166244 Q8NEK5 ZN548_HUMAN Homo sapiens zinc finger protein 548 (ZNF548), transcript variant 1, mRNA. 431 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAAATTCTTTCGTTACAACTC 0.463000 66 5 0 0 1 0 0 NOC3L 64318 broad.mit.edu 37 10 96110005 96110005 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:96110005G>A uc001kjq.1 - 8 1081 c.993C>T c.(991-993)tcC>tcT p.S331S NOC3L_uc009xuk.1_Silent_p.S116S NM_022451 NP_071896 Q8WTT2 NOC3L_HUMAN Homo sapiens nucleolar complex associated 3 homolog (S. cerevisiae) (NOC3L), mRNA. 331 nuclear speck|nucleolus binding endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1) 29 Colorectal(252;0.0897) ATGCCTTTAAGGAAACTACAT 0.378000 129 14 0 0 1 0 0 PRSS55 203074 broad.mit.edu 37 8 10396104 10396104 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:10396104C>T uc003wta.3 + 4 900 c.860C>T c.(859-861)tCg>tTg p.S287L AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Intron|PRSS55_uc003wtb.3_Intron NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA. 287 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 ATATACACCTCGTTGGTGAAC 0.527000 112 5 0 0 1 0 0 RPN2 6185 broad.mit.edu 37 20 35812603 35812603 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:35812603T>C uc002xgp.3 + 1 338 c.34T>C c.(34-36)Ttg>Ctg p.L12L RPN2_uc010gfw.2_5'UTR|RPN2_uc002xgq.3_Silent_p.L12L NM_002951 NP_002942 P04844 RPN2_HUMAN Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA. 12 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) TGTCTTCCTGTTGGCCCTGAC 0.522000 125 17 0 0 1 0 0 GALE 2582 broad.mit.edu 37 1 24123214 24123214 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:24123214C>T uc009vqo.1 - 7 978 c.768G>A c.(766-768)agG>agA p.R256R GALE_uc001bhv.1_Silent_p.R256R|GALE_uc001bhx.1_Silent_p.R256R|GALE_uc001bhz.1_Silent_p.R182R NM_001127621 NP_001121093 Q14376 GALE_HUMAN Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA. 256 galactose catabolic process cytosol UDP-glucose 4-epimerase activity|coenzyme binding|protein homodimerization activity endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) CTTTCAGCTTCCTTAAGGCTG 0.592000 38 5 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81745046 81745046 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:81745046C>T uc010tvu.2 - 3 807 c.609G>A c.(607-609)gaG>gaA p.E203E STON2_uc001xvk.1_Silent_p.E203E|STON2_uc010tvt.2_5'UTR NM_033104 NP_149095 Q8WXE9 STON2_HUMAN Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA. 203 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) TGGCCTCCATCTCTACTTCTT 0.512000 70 4 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6690903 6690903 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:6690903G>A uc001qpo.3 - 30 4757 c.4593C>T c.(4591-4593)tcC>tcT p.S1531S CHD4_uc001qpn.3_Silent_p.S1524S|CHD4_uc001qpp.3_Silent_p.S1556S|AK096395_uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA. 1531 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ACCCTGGCTGGGACATCTTCT 0.552000 163 7 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247752387 247752387 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:247752387G>A uc010pyy.2 + 0 726 c.726G>A c.(724-726)ggG>ggA p.G242G NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA. 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G242W(1) endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.017) AAGCATTCGGGACCTGCTTCT 0.507000 45 4 0 0 1 0 0 ZMYM6 9204 broad.mit.edu 37 1 35476563 35476563 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:35476563C>T uc001byh.3 - 8 1365 c.1137G>A c.(1135-1137)ccG>ccA p.P379P ZMYM6_uc001byf.1_Silent_p.P379P|ZMYM6_uc010oht.2_Silent_p.P282P|ZMYM6_uc009vup.3_Silent_p.P185P|ZMYM6_uc009vuq.1_Silent_p.P379P|ZMYM6_uc009vur.1_Silent_p.P185P NM_007167 NP_009098 O95789 ZMYM6_HUMAN Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA. 379 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) TGGAGGAGGGCGGGCTTACAA 0.532000 57 8 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20172021 20172021 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:20172021T>C uc002wru.3 + 14 1662 c.1548T>C c.(1546-1548)gtT>gtC p.V516V C20orf26_uc010zse.2_Silent_p.V496V NM_015585 NP_056400 Q8NHU2 CT026_HUMAN Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA. 516 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) TAGCTGAAGTTGCAGAACAAA 0.338000 104 12 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45134898 45134898 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:45134898G>A uc003com.3 - 5 1633 c.1498C>T c.(1498-1500)Ccg>Tcg p.P500S NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA. 500 CUB. extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) GAGCCTCCCGGGCAGAAGGAG 0.597000 77 4 0 0 1 0 0 NOX5 79400 broad.mit.edu 37 15 69329472 69329472 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:69329472C>T uc002ars.2 + 7 1334 c.1293C>T c.(1291-1293)ttC>ttT p.F431F MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.F385F|NOX5_uc002arp.2_Silent_p.F413F|NOX5_uc010bid.2_Silent_p.F396F|NOX5_uc010bie.2_Silent_p.F231F|NOX5_uc002arr.2_Silent_p.F403F|NOX5_uc010bif.2_Non-coding_Transcript NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 431 Ferric oxidoreductase. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 TCTTGTTTTTCCTGGAGAAGG 0.562000 99 13 0 0 1 0 0 BBS1 582 broad.mit.edu 37 11 66294177 66294177 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:66294177G>A uc001oii.1 + 12 1427 c.1349G>A c.(1348-1350)aGt>aAt p.S450N BBS1_uc001oil.1_Missense_Mutation_p.S284N|BBS1_uc010rpg.1_Missense_Mutation_p.S316N|BBS1_uc001oij.1_Missense_Mutation_p.S413N|BBS1_uc001oik.1_Missense_Mutation_p.S337N|ZDHHC24_uc009yrg.2_Intron|BBS1_uc010rph.1_Missense_Mutation_p.S81N NM_024649 NP_078925 Q8NFJ9 BBS1_HUMAN Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA. 413 nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis BBSome|cilium membrane|cytoplasm protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 28 GAGGGAGGAAGTGAGGTGGGT 0.572000 Bardet-Biedl syndrome 168 12 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137928414 137928414 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:137928414C>T uc002tva.1 + 5 1536 c.1536C>T c.(1534-1536)taC>taT p.Y512Y THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.Y402Y NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CAATGTGCTACCGATGGCTGG 0.532000 36 3 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95172199 95172199 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:95172199C>T uc003ygh.2 - 12 1676 c.1551_splice c.e12+1 p.K517_splice CDH17_uc011lgo.1_Splice_Site_p.K303_splice|CDH17_uc011lgp.1_Splice_Site_p.K517_splice NM_004063 NP_004054 Q12864 CAD17_HUMAN Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA. 517 Cadherin 5. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GGCTATTTACCTTTTTAATTA 0.383000 58 4 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4919217 4919217 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:4919217G>A uc001qng.3 + 0 876 c.10G>A c.(10-12)Gag>Aag p.E4K KCNA6_uc021qtr.1_Missense_Mutation_p.E4K NM_002235 NP_002226 P17658 KCNA6_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA. 4 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CATGAGATCGGAGAAATCCCT 0.736000 HNSCC(72;0.22) 24 4 0 0 1 0 0 TFAP2C 7022 broad.mit.edu 37 20 55211713 55211713 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:55211713G>A uc002xya.3 + 5 1213 c.970G>A c.(970-972)Gaa>Aaa p.E324K TFAP2C_uc010zzi.2_Missense_Mutation_p.E155K NM_003222 NP_003213 Q92754 AP2C_HUMAN Homo sapiens transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C), mRNA. 324 H-S-H (helix-span-helix), dimerization. cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) CTGTGAAGCCGAATTTCCTAG 0.463000 93 13 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19451764 19451764 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:19451764C>T uc002dgc.4 + 2 1153 c.404C>T c.(403-405)cCt>cTt p.P135L TMC5_uc010vaq.2_Missense_Mutation_p.P135L|TMC5_uc002dgb.4_Missense_Mutation_p.P135L|TMC5_uc010var.2_Missense_Mutation_p.P135L NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 135 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CAACGAAATCCTGATTTTGCA 0.502000 231 21 0 0 1 0 0 ZNF643 65243 broad.mit.edu 37 1 40928725 40928725 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:40928725C>T uc001cfn.2 + 4 1366 c.1069C>T c.(1069-1071)Cat>Tat p.H357Y ZNF643_uc001cfl.2_Missense_Mutation_p.H255Y|ZNF643_uc001cfm.2_Missense_Mutation_p.H223Y NM_023070 NP_075558 Q9UJL9 ZN643_HUMAN Homo sapiens zinc finger protein 643 (ZNF643), mRNA. 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.25e-18) TGTTAGAATTCATACCGGGGA 0.438000 43 3 0 0 1 0 0 GPS2 2874 broad.mit.edu 37 17 7222444 7222444 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:7222444G>A uc002gga.1 - 21 3616 c.3609C>T c.(3607-3609)ttC>ttT p.F1203F GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|GPS2_uc002ggb.1_Silent_p.F1201F NM_032442 NP_115818 Q13227 GPS2_HUMAN Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA. 0 JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) CAGAAGCAGGGAAGTTGAGCC 0.582000 54 8 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211513246 211513246 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:211513246G>A uc010fur.3 + 27 3486 c.3404G>A c.(3403-3405)aGg>aAg p.R1135K CPS1_uc002vee.4_Missense_Mutation_p.R1129K|CPS1_uc010fus.3_Missense_Mutation_p.R678K NM_001122633 NP_001116105 P31327 CPSM_HUMAN Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 1129 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TGCTTGTTGAGGCCTTCCTAT 0.338000 121 7 0 0 1 0 0 RIMS4 140730 broad.mit.edu 37 20 43385538 43385538 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:43385538C>T uc010ggu.3 - 5 661 c.594_splice c.e5+1 p.Q198_splice RIMS4_uc002xms.3_Splice_Site_p.Q197_splice NM_001205317 NP_001192246 Q9H426 RIMS4_HUMAN Homo sapiens regulating synaptic membrane exocytosis 4 (RIMS4), transcript variant 1, mRNA. 197 C2. exocytosis|neurotransmitter transport cell junction|synapse central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) ATGCCCCTCACCTGGAGGACT 0.587000 320 31 0 0 1 0 0 BSDC1 55108 broad.mit.edu 37 1 32843591 32843591 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:32843591G>A uc001bvi.3 - 7 754 c.707C>T c.(706-708)cCc>cTc p.P236L BSDC1_uc001bvh.4_Missense_Mutation_p.P219L|BSDC1_uc010ohg.2_Missense_Mutation_p.P236L|BSDC1_uc010ohh.2_Missense_Mutation_p.P163L|BSDC1_uc010ohi.2_Missense_Mutation_p.P124L|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Missense_Mutation_p.P115L Q9NW68 BSDC1_HUMAN Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA. 219 protein binding breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CTCCCAGCCGGGCTCTTCAGA 0.647000 57 13 0 0 1 0 0 HLA-DQB1 3119 broad.mit.edu 37 6 32629807 32629807 + Missense_Mutation SNP C T T rs9273943 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:32629807C>T uc021yvz.1 - 2 680 c.598G>A c.(598-600)Gga>Aga p.G200R HLA-DQB1_uc010juc.2_Missense_Mutation_p.G155R|HLA-DQB1_uc003obw.3_Missense_Mutation_p.G200R|HLA-DQB1_uc011dqd.2_Missense_Mutation_p.G200R|HLA-DQB1_uc011dqe.2_3'UTR NM_001243961 NP_001230890 P01920 DQB1_HUMAN Homo sapiens major histocompatibility complex, class II, DQ beta 1 (HLA-DQB1), transcript variant 2, mRNA. 200 Beta-2.|Ig-like C1-type. GD -> A (in allele DQB1*03:09). T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane MHC class II receptor activity p.R199H(1) breast(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TAGACATCTCCACGCTGGGGA 0.567000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 114 17 0 0 1 0 0 C1orf146 388649 broad.mit.edu 37 1 92707815 92707815 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:92707815G>A uc001doq.3 + 2 185 c.113G>A c.(112-114)cGa>cAa p.R38Q C1orf146_uc010ote.2_Intron NM_001012425 NP_001012425 Q5VVC0 CA146_HUMAN Homo sapiens chromosome 1 open reading frame 146 (C1orf146), mRNA. 38 breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 all_lung(203;0.00528)|Lung NSC(277;0.0193) all cancers(265;0.00846)|Epithelial(280;0.0952) CACAAAGTTCGATATTCAGAT 0.299000 47 7 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36026303 36026303 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:36026303G>A uc021rid.1 + 39 6913 c.6379G>A c.(6379-6381)Gaa>Aaa p.E2127K NBEA_uc021ric.1_Missense_Mutation_p.E2124K|NBEA_uc010abi.3_Missense_Mutation_p.E783K NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 2127 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGCAGAGACAGAACTTATGCT 0.343000 16 3 0 0 1 0 0 KLK13 26085 broad.mit.edu 37 19 51563860 51563860 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:51563860A>G uc002pvn.3 - 1 112 c.69T>C c.(67-69)tcT>tcC p.S23S KLK13_uc002pvl.3_Non-coding_Transcript|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Non-coding_Transcript|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Silent_p.S23S|KLK13_uc002pvq.3_Non-coding_Transcript|KLK13_uc010eoo.3_Intron|KLK13_uc002pvr.3_Silent_p.S23S NM_015596 NP_056411 Q9UKR3 KLK13_HUMAN Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA. 23 proteolysis protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 16 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) GAACCTTGGAAGACTCCTGGG 0.562000 134 10 0 0 1 0 0 ATG16L1 55054 broad.mit.edu 37 2 234173762 234173762 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:234173762T>C uc002vty.3 + 4 871 c.614T>C c.(613-615)cTt>cCt p.L205P ATG16L1_uc021vyl.1_Missense_Mutation_p.L89P|ATG16L1_uc002vub.3_Missense_Mutation_p.L82P|ATG16L1_uc002vtz.3_Intron|ATG16L1_uc002vud.4_Missense_Mutation_p.L121P|ATG16L1_uc002vua.3_Missense_Mutation_p.L205P|ATG16L1_uc002vtx.2_Intron NM_030803 NP_001177196 Q676U5 A16L1_HUMAN Homo sapiens ATG16 autophagy related 16-like 1 (S. cerevisiae) (ATG16L1), transcript variant 1, mRNA. 205 autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1) 25 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) GCCAATCGGCTTAATGCAGAG 0.458000 84 6 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52521359 52521359 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:52521359C>T uc010bff.3 - 24 3340 c.3178G>A c.(3178-3180)Gaa>Aaa p.E1060K MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN Homo sapiens myosin VC (MYO5C), mRNA. 1060 myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) CGGGCCACTTCCGCCTTCAAG 0.522000 156 12 0 0 1 0 0 PIGR 5284 broad.mit.edu 37 1 207109156 207109156 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:207109156C>T uc001hez.3 - 4 1237 c.1053G>A c.(1051-1053)acG>acA p.T351T PIGR_uc009xbz.3_Silent_p.T351T NM_002644 NP_002635 P01833 PIGR_HUMAN Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA. 351 Ig-like V-type 3. extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TGCGGGGAATCGTGGACTCTG 0.607000 OREG0014186 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 4 0 0 1 0 0 OR8A1 390275 broad.mit.edu 37 11 124440137 124440137 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:124440137G>A uc010san.2 + 0 173 c.173G>A c.(172-174)gGg>gAg p.G58E NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA. 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) ACCATCGTGGGGAACCTGGGC 0.502000 72 8 0 0 1 0 0 BTNL3 10917 broad.mit.edu 37 5 180424352 180424352 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:180424352C>T uc003mmr.3 + 2 721 c.537C>T c.(535-537)tcC>tcT p.S179S NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN Homo sapiens butyrophilin-like 3 (BTNL3), mRNA. 179 Ig-like V-type. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) CTTCAGACTCCAGAGCAAATG 0.512000 38 4 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55734085 55734085 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:55734085C>T uc021tio.1 + 11 1676 c.1625C>T c.(1624-1626)cCa>cTa p.P542L SLC6A2_uc002eif.3_Missense_Mutation_p.P542L|SLC6A2_uc002eig.3_Missense_Mutation_p.P542L|SLC6A2_uc002eii.3_Missense_Mutation_p.P437L|SLC6A2_uc002eij.3_Missense_Mutation_p.P256L|SLC6A2_uc021tip.1_Intron NM_001172504 NP_001165975 P23975 SC6A2_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA. 542 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) AACTTCAAGCCACTCACCTAC 0.542000 113 10 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994604 140994604 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:140994604G>A uc004fbt.3 + 3 1738 c.1414G>A c.(1414-1416)Ggt>Agt p.G472S MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.G131S NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 472 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TACTTTTGAGGGTTTTCCCCA 0.488000 HNSCC(15;0.026) 117 16 0 0 1 0 0 OR10A4 283297 broad.mit.edu 37 11 6898467 6898467 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:6898467G>A uc010rat.2 + 0 612 c.589G>A c.(589-591)Gaa>Aaa p.E197K NM_207186 NP_997069 Q9H209 O10A4_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA. 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTCTGTGTTTGAACTGGAGGC 0.498000 71 6 0 0 1 0 0 SERPINB6 5269 broad.mit.edu 37 6 2948778 2948778 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:2948778G>A uc003muk.3 - 5 2880 c.885C>T c.(883-885)ttC>ttT p.F295F SERPINB6_uc003mui.3_Silent_p.F178F|SERPINB6_uc003muj.3_Non-coding_Transcript|SERPINB6_uc003mul.3_Silent_p.F295F|SERPINB6_uc003mum.3_Silent_p.F295F|SERPINB6_uc003mun.3_Silent_p.F295F|SERPINB6_uc003muo.3_Silent_p.F295F NM_004568 NP_004559 P35237 SPB6_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 6 (SERPINB6), transcript variant 1, mRNA. 295 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) TGCCCAGCTCGAAGGCATCAG 0.547000 181 26 0 0 1 0 0 SLC3A1 6519 broad.mit.edu 37 2 44508548 44508548 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:44508548C>T uc002ruc.4 + 2 711 c.633C>T c.(631-633)ttC>ttT p.F211F SLC3A1_uc002rty.3_Silent_p.F211F|SLC3A1_uc002rtz.2_Silent_p.F211F|SLC3A1_uc002rua.3_Silent_p.F211F|SLC3A1_uc002rub.2_Silent_p.F211F NM_000341 NP_000332 Q07837 SLC31_HUMAN Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA. 211 carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) TCATCGATTTCATACCAAACC 0.353000 82 7 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197313606 197313606 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:197313606G>A uc001gtz.3 + 3 1057 c.848_splice c.e3+1 p.R283_splice CRB1_uc010poz.2_Splice_Site_p.R214_splice|CRB1_uc001gty.2_Splice_Site_p.R283_splice|CRB1_uc009wza.3_Intron|CRB1_uc010ppa.2_Splice_Site|CRB1_uc010ppb.2_Splice_Site_p.R283_splice|CRB1_uc010ppc.1_Splice_Site NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 283 EGF-like 7; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GGAGAAAACAGGTACATTTTC 0.483000 110 5 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13368211 13368211 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:13368211C>T uc002mwy.3 - 27 4779 c.4543G>A c.(4543-4545)Gag>Aag p.E1515K CACNA1A_uc002mwx.3_Missense_Mutation_p.E221K|CACNA1A_uc010dzc.2_Missense_Mutation_p.E1041K|CACNA1A_uc010xnd.2_Missense_Mutation_p.E1518K|CACNA1A_uc021ups.1_Missense_Mutation_p.E1515K|CACNA1A_uc010xne.2_Missense_Mutation_p.E1518K|CACNA1A_uc010dze.2_Missense_Mutation_p.E1515K|CACNA1A_uc021upt.1_Missense_Mutation_p.E1516K|CACNA1A_uc002mwv.3_Missense_Mutation_p.E32K NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 1516 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TCCCCTTGCTCCTGGAAGGTG 0.453000 57 6 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150656745 150656745 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:150656745G>A uc003wic.3 - 2 788 c.387C>T c.(385-387)ttC>ttT p.F129F KCNH2_uc011kux.2_Silent_p.F33F|KCNH2_uc003wie.3_Silent_p.F129F NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 129 PAC. blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) TCACCACCTCGAAATTGAGGA 0.592000 92 7 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37922608 37922608 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:37922608G>A uc002hsu.3 - 7 1027 c.965C>T c.(964-966)cCc>cTc p.P322L IKZF3_uc002htd.3_Missense_Mutation_p.P288L|IKZF3_uc010cwd.3_Missense_Mutation_p.P179L|IKZF3_uc002hsv.3_Missense_Mutation_p.P249L|IKZF3_uc010cwe.3_Missense_Mutation_p.P188L|IKZF3_uc010cwf.3_Missense_Mutation_p.P140L|IKZF3_uc010cwg.3_Missense_Mutation_p.P101L|IKZF3_uc002hsw.3_Missense_Mutation_p.P283L|IKZF3_uc002hsx.3_Missense_Mutation_p.P266L|IKZF3_uc002hsy.3_Missense_Mutation_p.P283L|IKZF3_uc002hsz.3_Missense_Mutation_p.P227L|IKZF3_uc002hta.3_Missense_Mutation_p.P244L|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.P235L|IKZF3_uc002htc.3_Missense_Mutation_p.P75L|IKZF3_uc010wel.2_Missense_Mutation_p.P75L NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA. 322 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CTGGACCAAGGGGCGCAGGGC 0.557000 57 5 0 0 1 0 0 TINAG 27283 broad.mit.edu 37 6 54173485 54173485 + Missense_Mutation SNP G A A rs147898099 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:54173485G>A uc003pcj.2 + 0 283 c.137G>A c.(136-138)cGa>cAa p.R46Q TINAG_uc003pci.3_Missense_Mutation_p.R46Q|TINAG_uc010jzt.2_Non-coding_Transcript NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA. 46 Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) CAAGGTACTCGATTCAAAAGA 0.428000 81 14 0 0 1 0 0 VRK3 51231 broad.mit.edu 37 19 50492968 50492968 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:50492968A>G uc002prg.2 - 10 1122 c.1024T>C c.(1024-1026)Tac>Cac p.Y342H VRK3_uc002prh.1_Missense_Mutation_p.Y342H|VRK3_uc002pri.1_Missense_Mutation_p.Y292H|VRK3_uc010ens.2_Missense_Mutation_p.Y342H|VRK3_uc010ybl.1_Missense_Mutation_p.Y292H|VRK3_uc010ybm.1_Missense_Mutation_p.Y111H|VRK3_uc002prk.2_Missense_Mutation_p.Y342H|VRK3_uc010ent.2_Missense_Mutation_p.Y98H|VRK3_uc002prl.3_Missense_Mutation_p.Y342H|VRK3_uc010ybn.1_3'UTR NM_016440 NP_057524 Q8IV63 VRK3_HUMAN Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA. 342 Protein kinase. nucleus ATP binding|protein kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) CCTTCCACGTAGGCCACGTGT 0.577000 34 8 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149264 34149264 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:34149264C>T uc004ddg.3 - 0 1184 c.1132G>A c.(1132-1134)Gag>Aag p.E378K NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 378 p.E378*(2) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TTGGAAGGCTCCGCGTGGAGA 0.637000 38 10 0 0 1 0 0 ATP2A3 489 broad.mit.edu 37 17 3846815 3846815 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:3846815G>A uc002fwy.2 - 11 1461 c.1288_splice c.e11-1 p.A430_splice ATP2A3_uc002fwz.2_Splice_Site_p.A430_splice|ATP2A3_uc002fxa.2_Splice_Site_p.A430_splice|ATP2A3_uc002fxb.2_Splice_Site_p.A430_splice|ATP2A3_uc002fxc.2_Splice_Site_p.A430_splice|ATP2A3_uc002fxd.2_Splice_Site_p.A430_splice|ATP2A3_uc002fwx.2_Splice_Site_p.A430_splice NM_174953 NP_777613 Q93084 AT2A3_HUMAN Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA. 430 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) CACACCCTTGGCCTGGCAAGG 0.627000 195 22 0 0 1 0 0 ABHD1 84696 broad.mit.edu 37 2 27353428 27353428 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:27353428C>T uc002rit.3 + 8 1194 c.1034C>T c.(1033-1035)tCc>tTc p.S345F ABHD1_uc002riu.3_Non-coding_Transcript|ABHD1_uc002riv.3_Non-coding_Transcript NM_032604 NP_115993 Q96SE0 ABHD1_HUMAN Homo sapiens abhydrolase domain containing 1 (ABHD1), mRNA. 345 integral to membrane carboxylesterase activity endometrium(1)|kidney(1)|lung(3) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCCAACACTCCCCCTACGTT 0.627000 206 38 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772473 4772473 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:4772473C>T uc001alm.1 + 1 924 c.543C>T c.(541-543)atC>atT p.I181I AJAP1_uc001aln.3_Silent_p.I181I NM_001042478 NP_061324 Q9UKB5 AJAP1_HUMAN Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA. 181 Thr-rich. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CTGAGTTCATCGCCTGGGGGC 0.647000 12 4 0 0 1 0 0 LARP6 55323 broad.mit.edu 37 15 71125132 71125132 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:71125132C>T uc002ass.3 - 2 806 c.735G>A c.(733-735)agG>agA p.R245R NM_018357 NP_060827 Q9BRS8 LARP6_HUMAN Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA. 245 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex RNA binding|nucleotide binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 19 GGCTGCTGATCCTCCGGATGT 0.562000 29 3 0 0 1 0 0 NFRKB 4798 broad.mit.edu 37 11 129747256 129747256 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:129747256G>A uc001qfg.3 - 13 1732 c.1611C>T c.(1609-1611)ccC>ccT p.P537P NFRKB_uc001qfi.3_Silent_p.P512P|NFRKB_uc001qfh.3_Silent_p.P535P|NFRKB_uc010sbw.1_Silent_p.P522P|NFRKB_uc009zcr.3_5'Flank NM_006165 NP_006156 Q6P4R8 NFRKB_HUMAN Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA. 512 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) CCCCCGTGCTGGGACGCACCA 0.512000 214 21 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31040114 31040114 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:31040114C>T uc002nsu.1 + 3 3726 c.3588C>T c.(3586-3588)gcC>gcT p.A1196A ZNF536_uc010edd.1_Silent_p.A1196A NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 1196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CACTGTCTGCCCTCAGCAAAG 0.587000 93 9 0 0 1 0 0 CD2 914 broad.mit.edu 37 1 117303215 117303215 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:117303215G>A uc001egu.4 + 2 603 c.574G>A c.(574-576)Gtc>Atc p.V192I CD2_uc010owz.1_Missense_Mutation_p.V192I|CD2_uc010oxa.1_Intron NM_001767 NP_001758 P06729 CD2_HUMAN Homo sapiens CD2 molecule (CD2), mRNA. 192 Ig-like C2-type. T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) AGGGAACAAAGTCAGCAAGGA 0.527000 70 11 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21799382 21799382 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:21799382G>A uc001ber.3 + 5 1058 c.708G>A c.(706-708)gaG>gaA p.E236E NBPF3_uc001bes.3_Silent_p.E180E|NBPF3_uc009vqb.3_Silent_p.E236E|NBPF3_uc010odm.2_Silent_p.E166E NM_032264 NP_115640 Q9H094 NBPF3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA. 236 NBPF 1. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AGGAGGCTGAGAAAGTACAGG 0.423000 73 10 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420634 105420634 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:105420634C>T uc010axc.1 - 6 1274 c.1154G>A c.(1153-1155)cGa>cAa p.R385Q AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.R285Q NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 385 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CATCACTTCTCGATCCTGTTC 0.632000 160 22 0 0 1 0 0 ZFP112 7771 broad.mit.edu 37 19 44891416 44891416 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:44891416G>A uc010xxa.2 - 3 1055 c.1012C>T c.(1012-1014)Ctt>Ttt p.L338F ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.L331F NM_152354 NP_689567 Q9UJU3 ZF112_HUMAN Homo sapiens zinc finger protein 285 (ZNF285), mRNA. 624 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3) 41 TGGTTGTGAAGGGAAGAGCTG 0.478000 72 4 0 0 1 0 0 TUBA3E 112714 broad.mit.edu 37 2 130953884 130953884 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:130953884C>T uc002tqv.3 - 1 165 c.64G>A c.(64-66)Gaa>Aaa p.E22K NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN Homo sapiens tubulin, alpha 3e (TUBA3E), mRNA. 22 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) CAGTACAGTTCCCAGCAGGCA 0.512000 237 12 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55447703 55447703 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:55447703G>A uc002qih.4 - 5 2302 c.2226C>T c.(2224-2226)atC>atT p.I742I NLRP7_uc010esk.3_Silent_p.I742I|NLRP7_uc002qig.4_Silent_p.I714I|NLRP7_uc002qii.4_Silent_p.I742I|NLRP7_uc010esl.3_Silent_p.I770I NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 742 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GTTCCCACTCGATGTGCCCTG 0.552000 42 3 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389765 150389765 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:150389765G>A uc003who.3 + 2 479 c.391G>A c.(391-393)Gag>Aag p.E131K NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA. 131 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAGGGTGAAGGAGATCTTTGG 0.552000 69 4 0 0 1 0 0 MKX 283078 broad.mit.edu 37 10 28023626 28023626 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:28023626T>A uc001ity.4 - 4 822 c.597A>T c.(595-597)aaA>aaT p.K199N MKX_uc001itx.4_Missense_Mutation_p.K199N NM_173576 NP_775847 Q8IYA7 MKX_HUMAN Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA. 199 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 TCACTCCCGCTTTGATGACCG 0.488000 111 14 0 0 1 0 0 ANXA10 11199 broad.mit.edu 37 4 169085350 169085350 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:169085350G>A uc003irm.3 + 5 474 c.310_splice c.e5-1 p.G104_splice ANXA10_uc003irn.3_5'Flank NM_007193 NP_009124 Q9UJ72 ANX10_HUMAN Homo sapiens annexin A10 (ANXA10), mRNA. 104 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) TTTCTCTAGGGAGTAGGCACT 0.363000 37 3 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141721516 141721516 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141721516G>A uc003vwy.3 + 5 743 c.689G>A c.(688-690)aGa>aAa p.R230K NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 230 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AAAGTGACCAGAAGAAGCAAC 0.458000 75 14 0 0 1 0 0 FGF21 26291 broad.mit.edu 37 19 49261190 49261190 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:49261190C>T uc002pkn.1 + 3 915 c.343C>T c.(343-345)Cac>Tac p.H115Y FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Missense_Mutation_p.H115Y NM_019113 NP_061986 Q9NSA1 FGF21_HUMAN Homo sapiens fibroblast growth factor 21 (FGF21), mRNA. 115 cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import extracellular region|soluble fraction growth factor activity breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) CCCCTAGCTCCACTTTGACCC 0.597000 419 30 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131916227 131916227 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:131916227C>T uc003ytd.4 - 6 1958 c.1702G>A c.(1702-1704)Ggc>Agc p.G568S ADCY8_uc010mds.3_Missense_Mutation_p.G568S NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 568 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TTACCATGGCCCTCTTCCACG 0.453000 HNSCC(32;0.087) 152 10 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21226084 21226084 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:21226084C>T uc002red.3 - 28 12338 c.12210G>A c.(12208-12210)ctG>ctA p.L4070L NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 4070 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CGTTGTCTTTCAGAGAGGTTA 0.478000 152 7 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112319689 112319689 + Silent SNP C T T rs148478583 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:112319689C>T uc001ebu.1 - 6 2205 c.1725G>A c.(1723-1725)acG>acA p.T575T KCND3_uc001ebv.1_Silent_p.T556T NM_004980 NP_004971 Q9UK17 KCND3_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA. 575 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GGATGTGGATCGTGCTGAGCT 0.567000 47 7 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23862722 23862722 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:23862722C>T uc001wjv.3 - 22 3005 c.2934G>A c.(2932-2934)aaG>aaA p.K978K NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 978 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTGTTAGGTTCTTCACCTGCC 0.532000 274 23 0 0 1 0 0 SEPT12 124404 broad.mit.edu 37 16 4833743 4833743 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:4833743G>A uc002cxq.3 - 5 801 c.537C>T c.(535-537)ttC>ttT p.F179F SEPT12_uc002cxr.3_Silent_p.F133F|SEPT12_uc010bty.3_Non-coding_Transcript NM_144605 NP_653206 Q8IYM1 SEP12_HUMAN Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA. 179 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 GCCGCTGCAGGAACTCAATGT 0.657000 54 10 0 0 1 0 0 SMG6 23293 broad.mit.edu 37 17 2203842 2203843 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:2203842_2203843GG>AA uc002fub.1 - 1 259_260 c.204_205CC>TT c.(202-207)ccccct>ccTTct p.P69S SMG6_uc002fud.2_Missense_Mutation_p.P38S NM_017575 NP_060045 Q86US8 EST1A_HUMAN Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA. 69 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TCACTCCCAGGGGGTTCCTTGA 0.470000 122 9 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152276763 152276763 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:152276763C>T uc001ezu.1 - 2 10635 c.10599G>A c.(10597-10599)agG>agA p.R3533R NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3533 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATCCCTGGTTCCTGCTTGTCC 0.577000 Ichthyosis 239 20 0 0 1 0 0 SERTM1 400120 broad.mit.edu 37 13 37269359 37269359 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:37269359C>T uc001uvt.4 + 1 590 c.144C>T c.(142-144)ttC>ttT p.F48F SERTM1_uc021rii.1_Silent_p.F48F NM_203451 NP_982276 A2A2V5 CM036_HUMAN Homo sapiens serine-rich and transmembrane domain containing 1 (SERTM1), mRNA. 48 integral to membrane TGTCCATATTCCTCAGCCTTT 0.478000 111 5 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 54025313 54025313 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:54025313C>T uc002acj.2 - 1 76 c.34G>A c.(34-36)Gga>Aga p.G12R WDR72_uc010bfi.1_Missense_Mutation_p.G12R NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN Homo sapiens WD repeat domain 72 (WDR72), mRNA. 12 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) GCCTTCTGTCCCCAGAGTGCC 0.502000 69 11 0 0 1 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139732 142139732 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142139732G>A uc003vyt.3 - 0 84 c.39C>T c.(37-39)ttC>ttT p.F13F TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; CTGTCCCTAGGAAACCCAGGA 0.532000 80 9 0 0 1 0 0 SEMA4D 10507 broad.mit.edu 37 9 91994241 91994241 + Missense_Mutation SNP G A A rs148535806 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:91994241G>A uc004aqo.1 - 17 2539 c.1967C>T c.(1966-1968)cCc>cTc p.P656L SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.P656L NM_006378 NP_006369 Q92854 SEM4D_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA. 656 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 TGACAAGGTGGGGGCCACTAC 0.567000 265 25 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126542622 126542622 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:126542622C>T uc003vlr.2 - 4 1441 c.1130G>A c.(1129-1131)aGg>aAg p.R377K GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R377K|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R98K NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 377 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) ATGACTGTTCCTTTTCCCATG 0.358000 HNSCC(24;0.065) 71 7 0 0 1 0 0 CCDC7 221016 broad.mit.edu 37 10 32740822 32740822 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:32740822C>T uc001iwj.3 + 1 822 c.252C>T c.(250-252)atC>atT p.I84I CCDC7_uc009xlu.2_Non-coding_Transcript|CCDC7_uc001iwk.3_Silent_p.I84I|CCDC7_uc009xlv.3_Non-coding_Transcript|CCDC7_uc009xly.1_Non-coding_Transcript|CCDC7_uc009xlw.1_Non-coding_Transcript|CCDC7_uc009xlx.1_Silent_p.I84I NM_145023 NP_659460 Q96M83 CCDC7_HUMAN Homo sapiens coiled-coil domain containing 7 (CCDC7), transcript variant 1, mRNA. 84 NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2) 14 Breast(68;0.000207)|Prostate(175;0.0107) ATGAAATGATCGGAAAAATTA 0.438000 25 5 0 0 1 0 0 FERMT2 10979 broad.mit.edu 37 14 53360117 53360117 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:53360117G>A uc001xac.3 - 3 606 c.420C>T c.(418-420)ctC>ctT p.L140L FERMT2_uc001xad.3_Silent_p.L140L|FERMT2_uc001xae.3_Silent_p.L140L|FERMT2_uc001xaf.3_Silent_p.L140L NM_001134999 NP_001128471 Q96AC1 FERM2_HUMAN Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA. 140 actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding ERO1L/FERMT2(2) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Breast(41;0.0342) GTTTCTTTAAGAGAGAAAGTT 0.343000 62 5 0 0 1 0 0 ZNF238 10472 broad.mit.edu 37 1 244218280 244218280 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:244218280T>C uc001iad.4 + 1 1377 c.1204T>C c.(1204-1206)Ttc>Ctc p.F402L ZNF238_uc001iae.3_Missense_Mutation_p.F393L|ZNF238_uc001iaf.1_3'UTR NM_205768 NP_006343 Q99592 ZN238_HUMAN Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA. 393 Interaction with DNMT3A. negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(5)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123) all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223) GAGCACGCACTTCCGCGAGCA 0.622000 68 11 0 0 1 0 0 MAML1 9794 broad.mit.edu 37 5 179192414 179192414 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:179192414C>T uc003mkm.3 + 1 666 c.403C>T c.(403-405)Cct>Tct p.P135S MAML1_uc003mkn.1_Missense_Mutation_p.P135S NM_014757 NP_055572 Q92585 MAML1_HUMAN Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA. 135 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGACCTCTTTCCTGGGCATAA 0.542000 67 4 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21444710 21444710 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:21444710G>A uc004czx.2 + 1 640 c.160G>A c.(160-162)Gat>Aat p.D54N CNKSR2_uc004czw.3_Missense_Mutation_p.D54N|CNKSR2_uc011mjn.2_Missense_Mutation_p.D54N|CNKSR2_uc011mjo.2_Missense_Mutation_p.D54N NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA. 54 SAM. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 GGAGCTAGAAGATCTGGGGGT 0.478000 28 9 0 0 1 0 0 LHX1 3975 broad.mit.edu 37 17 35295497 35295497 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:35295497G>A uc002hnh.2 + 0 726 c.3G>A c.(1-3)atG>atA p.M1I BC084573_uc002hng.1_5'Flank|LHX1_uc010cux.1_5'Flank NM_005568 NP_005559 P48742 LHX1_HUMAN Homo sapiens LIM homeobox 1 (LHX1), mRNA. 1 S-shaped body morphogenesis|cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(25;0.00607) CAAAGACCATGGTTCACTGTG 0.572000 85 8 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23509621 23509621 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:23509621G>A uc003jgo.3 + 2 294 c.112G>A c.(112-114)Gaa>Aaa p.E38K NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 38 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CTTCACCAAGGAAGAATGGGC 0.418000 HNSCC(3;0.000094) 183 20 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46043129 46043129 + Missense_Mutation SNP C T T rs75184362 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:46043129C>T uc003gxb.3 - 8 1426 c.1274G>A c.(1273-1275)gGa>gAa p.G425E NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA. 425 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.T424K(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CCTCCAAGATCCTGTTCTGCA 0.408000 56 7 0 0 1 0 0 ZNF766 90321 broad.mit.edu 37 19 52785427 52785427 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:52785427C>T uc002pyt.1 + 2 504 c.127C>T c.(127-129)Cct>Tct p.P43S ZNF766_uc002pyr.1_Missense_Mutation_p.P28S|ZNF766_uc002pys.1_Missense_Mutation_p.P28S NM_001010851 NP_001010851 Q5HY98 ZN766_HUMAN Homo sapiens zinc finger protein 766 (ZNF766), mRNA. 28 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 17 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) ATGCCTGGACCCTGTGCAGAA 0.493000 256 14 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113237016 113237016 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:113237016A>T uc003ynu.3 - 70 11267 c.11108T>A c.(11107-11109)gTt>gAt p.V3703D CSMD3_uc003yns.3_Missense_Mutation_p.V2905D|CSMD3_uc003ynt.3_Missense_Mutation_p.V3663D|CSMD3_uc011lhx.2_Missense_Mutation_p.V3534D NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 3703 integral to membrane|plasma membrane p.T3702T(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CATTGTGCAAACCGTGTTCAA 0.423000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 171 22 0 0 1 0 0 BRCA1 672 broad.mit.edu 37 17 41223222 41223222 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:41223222A>G uc002icq.3 - 14 4941 c.4709T>C c.(4708-4710)cTc>cCc p.L1570P BRCA1_uc010whp.2_Missense_Mutation_p.L419P|BRCA1_uc010whl.2_Missense_Mutation_p.L466P|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.L1499P|BRCA1_uc002icu.3_Missense_Mutation_p.L466P|BRCA1_uc010cyx.3_Missense_Mutation_p.L1523P|BRCA1_uc002ict.3_Missense_Mutation_p.L1591P|BRCA1_uc010whn.2_Missense_Mutation_p.L61P|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.L299P|BRCA1_uc002idc.1_Missense_Mutation_p.L466P|BRCA1_uc010whr.1_Missense_Mutation_p.L420P NM_007294 NP_009228 P38398 BRCA1_HUMAN Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA. 1570 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) ATCAGAGAAGAGGCTGATTCC 0.453000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 131 5 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1057927 1057927 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:1057927C>T uc002lqw.4 + 35 5125 c.4894C>T c.(4894-4896)Ccg>Tcg p.P1632S ABCA7_uc002lqy.3_Intron|ABCA7_uc010dsc.3_5'Flank NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA. 1632 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) GTCGATCACACCGCTCATGTA 0.507000 169 11 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5153930 5153930 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:5153930G>A uc001qni.3 + 0 846 c.617G>A c.(616-618)gGg>gAg p.G206E NM_002234 NP_002225 P22460 KCNA5_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA. 206 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 TACCAGCTGGGGGACGAGGCC 0.627000 52 6 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162804210 162804210 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:162804210C>T uc002ubx.4 + 16 2422 c.2238C>T c.(2236-2238)ttC>ttT p.F746F SLC4A10_uc010zcs.2_Silent_p.F727F|SLC4A10_uc002uby.4_Silent_p.F716F NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 746 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TGAAGCAGTTCAAGACTAGCA 0.383000 110 15 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25000604 25000604 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:25000604C>T uc001upl.3 - 33 5085 c.4979_splice c.e33+1 p.R1660_splice NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA. 1660 Interaction with the major vault protein. DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TTAAAGCCACCTGGAAATAGA 0.333000 57 7 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43547240 43547240 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:43547240G>A uc002zag.1 + 17 3802 c.3802G>A c.(3802-3804)Gaa>Aaa p.E1268K UMODL1_uc002zad.1_Missense_Mutation_p.E1068K|UMODL1_uc002zae.1_Missense_Mutation_p.E1196K|UMODL1_uc002zaf.1_Missense_Mutation_p.E1140K|UMODL1_uc002zal.1_Missense_Mutation_p.E90K|UMODL1_uc010gpa.1_5'Flank NM_173568 NP_001186456 Q5DID0 UROL1_HUMAN Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA. 1140 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 TGTCAGGATCGAAGTGGGGCT 0.547000 103 9 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74006260 74006260 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:74006260G>A uc010wss.1 - 21 3320 c.3092C>T c.(3091-3093)aCc>aTc p.T1031I EVPL_uc002jqi.2_Missense_Mutation_p.T1009I|EVPL_uc010wst.1_Missense_Mutation_p.T479I NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1009 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 AGGCTGCATGGTCTTCCTCTT 0.657000 88 10 0 0 1 0 0 SLC5A11 115584 broad.mit.edu 37 16 24918042 24918042 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:24918042G>A uc002dmu.3 + 10 1302 c.1071G>A c.(1069-1071)tcG>tcA p.S357S SLC5A11_uc002dms.3_Silent_p.S293S|SLC5A11_uc010vcd.2_Silent_p.S322S|SLC5A11_uc002dmt.3_Missense_Mutation_p.G225R|SLC5A11_uc010vce.2_Silent_p.S287S|SLC5A11_uc010bxt.3_Silent_p.S293S|SLC5A11_uc002dmv.3_5'Flank NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA. 357 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) CAGGCTGTTCGGACATCGCGT 0.552000 OREG0023688 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 75 9 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112524916 112524916 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:112524916C>T uc001ebu.1 - 1 913 c.433G>A c.(433-435)Gag>Aag p.E145K KCND3_uc001ebv.1_Missense_Mutation_p.E145K NM_004980 NP_004971 Q9UK17 KCND3_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA. 145 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) ATGAGCCGCTCGGCGTTCTCC 0.627000 57 4 0 0 1 0 0 STARD6 147323 broad.mit.edu 37 18 51880872 51880872 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:51880872C>T uc010xdt.2 - 0 72 c.72G>A c.(70-72)tgG>tgA p.W24* NM_139171 NP_631910 P59095 STAR6_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA. 24 START. lipid transport lipid binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2) 8 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) TAACCACTTTCCAGCCTGATG 0.294000 87 6 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79301097 79301097 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:79301097G>A uc003hlb.2 + 26 3950 c.3510G>A c.(3508-3510)tgG>tgA p.W1170* FRAS1_uc003hkw.3_Nonsense_Mutation_p.W1170* NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 1169 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GTTTTAGCTGGAAAGATGTGA 0.453000 70 7 0 0 1 0 0 CRSP8P 441089 broad.mit.edu 37 5 79647607 79647607 + RNA SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:79647607G>A uc010jaj.1 - 0 c.179C>T Homo sapiens mediator complex subunit 27 pseudogene (CRSP8P), non-coding RNA. AAGTTGTCCTGGAAGTGCGCA 0.562000 159 6 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21519301 21519301 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:21519301C>T uc002kuq.3 + 67 9063 c.8977C>T c.(8977-8979)Ccc>Tcc p.P2993S LAMA3_uc002kur.3_Missense_Mutation_p.P2937S|LAMA3_uc002kus.4_Missense_Mutation_p.P1384S|LAMA3_uc002kut.4_Missense_Mutation_p.P1328S NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 2993 Laminin G-like 4. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGGGACATTCCCACCAGCCA 0.557000 280 20 0 0 1 0 0 TAC1 6863 broad.mit.edu 37 7 97363571 97363571 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:97363571G>A uc003uop.4 + 3 478 c.232G>A c.(232-234)Gaa>Aaa p.E78K TAC1_uc003uoq.4_Missense_Mutation_p.E78K|TAC1_uc003uor.4_Intron|TAC1_uc003uos.4_Intron NM_003182 NP_003173 P20366 TKN1_HUMAN Homo sapiens tachykinin, precursor 1 (TAC1), transcript variant beta, mRNA. 78 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space large_intestine(4)|lung(6)|urinary_tract(1) 11 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) TTCCTCAATTGAAAAACAAGT 0.343000 44 3 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49691340 49691340 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:49691340G>A uc003cxe.4 + 4 4465 c.4351G>A c.(4351-4353)Gag>Aag p.E1451K NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 1451 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AGCTGCTAGAGAGAAGCCCTT 0.597000 120 15 0 0 1 0 0 ERLEC1 27248 broad.mit.edu 37 2 54040124 54040124 + Silent SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:54040124A>T uc002rxl.3 + 10 1420 c.1140A>T c.(1138-1140)acA>acT p.T380T GPR75-ASB3_uc002rxi.4_Intron|ERLEC1_uc002rxm.3_Silent_p.T380T|ERLEC1_uc002rxn.3_Silent_p.T326T NM_015701 NP_056516 Q96DZ1 ERLEC_HUMAN Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA. 380 PRKCSH 2. ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1) 18 TTGTCGGGACATGGAACCAAG 0.393000 69 4 0 0 1 0 0 SPC25 57405 broad.mit.edu 37 2 169727952 169727952 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:169727952C>T uc002uel.3 - 6 795 c.664G>A c.(664-666)Gtt>Att p.V222I NM_020675 NP_065726 Q9HBM1 SPC25_HUMAN Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA. 222 Interaction with the C-terminus of SPBC24. cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 9 TAATTATAAACCGTGGCAGTA 0.303000 72 11 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215814029 215814029 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:215814029C>T uc001hku.1 - 67 15226 c.14839G>A c.(14839-14841)Gtg>Atg p.V4947M NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 4947 Fibronectin type-III 35. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTCACACACACCACAGACAAA 0.532000 HNSCC(13;0.011) 92 6 0 0 1 0 0 YJEFN3 374887 broad.mit.edu 37 19 19645922 19645922 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:19645922G>A uc002nmt.2 + 3 470 c.398G>A c.(397-399)gGg>gAg p.G133E YJEFN3_uc021uqv.1_3'UTR|YJEFN3_uc021uqw.1_Missense_Mutation_p.G132E|YJEFN3_uc010ecf.2_Missense_Mutation_p.G83E|YJEFN3_uc002nmu.2_Non-coding_Transcript NM_198537 NP_940939 A6XGL0 YJEN3_HUMAN Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 133 YjeF N-terminal. p.G133W(1) NS(1)|breast(1)|lung(3) 5 GGGGCAGTGGGGCTGGTCTGT 0.627000 150 16 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124417957 124417957 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:124417957C>T uc001uft.4 + 75 13047 c.13022C>T c.(13021-13023)gCc>gTc p.A4341V DNAH10_uc001ufu.4_Missense_Mutation_p.A254V NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 4341 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CTGGTGCAGGCCACCTGCCGG 0.612000 49 4 0 0 1 0 0 NIM1 167359 broad.mit.edu 37 5 43277234 43277234 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:43277234C>T uc003jno.3 + 2 1249 c.368C>T c.(367-369)tCc>tTc p.S123F NM_153361 NP_699192 Q8IY84 NIM1_HUMAN Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA. 123 Protein kinase. ATP binding|magnesium ion binding|protein serine/threonine kinase activity CGAGAAATCTCCAGCATGGAA 0.483000 59 3 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558604 140558604 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140558604G>A uc011dai.2 + 0 1234 c.989G>A c.(988-990)gGa>gAa p.G330E PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 330 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCTTTTCTGGAAAATGCACC 0.428000 634 15 0 0 1 0 0 LAIR1 3903 broad.mit.edu 37 19 54872707 54872707 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:54872707C>T uc002qfk.1 - 2 490 c.180G>A c.(178-180)ctG>ctA p.L60L LAIR1_uc002qfl.1_Silent_p.L60L|LAIR1_uc002qfm.1_Silent_p.L59L|LAIR1_uc002qfn.1_Silent_p.L59L|LAIR1_uc010yex.2_Silent_p.L53L|LAIR1_uc002qfo.3_Silent_p.L42L NM_002287 NP_002278 Q6GTX8 LAIR1_HUMAN Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA. 60 Ig-like C2-type. integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) TCTCCCTCTCCAGGCGGAATG 0.557000 181 31 0 0 1 0 0 TM6SF1 53346 broad.mit.edu 37 15 83781589 83781589 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:83781589C>T uc002bjp.3 + 1 242 c.133C>T c.(133-135)Ctg>Ttg p.L45L TM6SF1_uc010bmq.3_Silent_p.L45L|TM6SF1_uc002bjq.3_Silent_p.L45L|TM6SF1_uc010bmr.3_Non-coding_Transcript NM_023003 NP_075379 Q9BZW5 TM6S1_HUMAN Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA. 45 integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 CATCCTGTTCCTGGTAGCACT 0.493000 141 17 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32831831 32831831 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:32831831G>A uc003amn.2 - 7 784 c.784C>T c.(784-786)Ccc>Tcc p.P262S BPIFC_uc010gwo.2_Missense_Mutation_p.P76S|BPIFC_uc011amb.1_5'UTR NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN Homo sapiens BPI fold containing family C (BPIFC), mRNA. 262 extracellular region lipopolysaccharide binding|phospholipid binding GGTGAGAAGGGGGGGTCGGTG 0.458000 85 11 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59112896 59112896 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:59112896C>T uc001xdw.3 + 3 1719 c.1555C>T c.(1555-1557)Ccc>Tcc p.P519S DACT1_uc010trv.2_Missense_Mutation_p.P238S|DACT1_uc001xdx.3_Missense_Mutation_p.P482S|DACT1_uc010trw.2_Missense_Mutation_p.P238S NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA. 519 Wnt receptor signaling pathway|multicellular organismal development cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 GCAGGGCGTCCCCCCGGCCAC 0.587000 135 10 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202702772 202702772 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:202702772C>T uc009xag.3 - 23 3890 c.3774G>A c.(3772-3774)cgG>cgA p.R1258R KDM5B_uc001gyf.3_Silent_p.R1222R|KDM5B_uc001gyg.1_Silent_p.R1064R NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA. 1222 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 TCTCTGACCTCCGACAATGGG 0.517000 35 5 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140952542 140952542 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:140952542G>A uc004cog.3 + 27 4293 c.4148G>A c.(4147-4149)gGt>gAt p.G1383D CACNA1B_uc022bqn.1_Missense_Mutation_p.G1383D|CACNA1B_uc011mfd.2_Missense_Mutation_p.G984D|CACNA1B_uc004coi.3_Missense_Mutation_p.G597D NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 1383 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GAGGAGCAGGGTCCAAGCCCT 0.532000 69 5 0 0 1 0 0 MOG 4340 broad.mit.edu 37 6 29627199 29627199 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:29627199G>A uc003nnf.3 + 1 421 c.192G>A c.(190-192)atG>atA p.M64I MOG_uc003qzk.2_Missense_Mutation_p.M64I|MOG_uc010kle.2_Intron|MOG_uc010klf.2_Intron|MOG_uc003nmy.2_Missense_Mutation_p.M64I|MOG_uc003nna.3_Intron|MOG_uc011dlt.2_Intron|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Missense_Mutation_p.M64I|MOG_uc003nng.3_Missense_Mutation_p.M64I|MOG_uc003nni.3_Missense_Mutation_p.M64I|MOG_uc003nnh.3_Missense_Mutation_p.M64I|MOG_uc003nnj.3_Missense_Mutation_p.M64I|MOG_uc003nnk.3_Missense_Mutation_p.M64I NM_206809 NP_996532 Q16653 MOG_HUMAN Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA. 64 Ig-like V-type. cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 CTACAGGCATGGAGGTGGGGT 0.562000 157 13 0 0 1 0 0 NT5C3L 115024 broad.mit.edu 37 17 39985089 39985089 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:39985089G>A uc021txo.1 - 6 598 c.520C>T c.(520-522)Cac>Tac p.H174Y NT5C3L_uc021txn.1_Missense_Mutation_p.H166Y|NT5C3L_uc002hxy.4_Missense_Mutation_p.H166Y NM_052935 NP_443167 C9JKC4 C9JKC4_HUMAN Homo sapiens 5'-nucleotidase, cytosolic III-like (NT5C3L), transcript variant 1, mRNA. 174 cytoplasm 5'-nucleotidase activity|magnesium ion binding kidney(1)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 11 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(366;0.15) ATGTTGGGGTGGAACACTTTC 0.463000 192 8 0 0 1 0 0 IFITM5 387733 broad.mit.edu 37 11 298561 298561 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:298561C>T uc001low.1 - 1 375 c.339G>A c.(337-339)cgG>cgA p.R113R NM_001025295 NP_001020466 A6NNB3 IFM5_HUMAN Homo sapiens interferon induced transmembrane protein 5 (IFITM5), mRNA. 113 multicellular organismal development|regulation of bone mineralization|response to biotic stimulus integral to membrane|plasma membrane lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122) CCTTGGCCAGCCGGGCCAGGT 0.632000 36 3 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105397281 105397281 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:105397281G>A uc003dwc.3 - 16 2885 c.2563C>T c.(2563-2565)Cct>Tct p.P855S CBLB_uc003dwa.3_Missense_Mutation_p.P70S|CBLB_uc011bhi.2_Missense_Mutation_p.P833S NM_170662 NP_733762 Q13191 CBLB_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA. 855 Pro-rich. NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 CTACCTGAAGGAAGAAGAAAA 0.423000 Mis S AML 46 8 0 0 1 0 0 VPS54 51542 broad.mit.edu 37 2 64208791 64208791 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:64208791C>T uc002scq.3 - 2 530 c.367G>A c.(367-369)Gaa>Aaa p.E123K VPS54_uc002scp.3_Missense_Mutation_p.E111K NM_016516 NP_057600 Q9P1Q0 VPS54_HUMAN Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA. 123 protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 TGAGAGATTTCCTGTTGATAT 0.348000 115 11 0 0 1 0 0 LGI2 55203 broad.mit.edu 37 4 25005547 25005547 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:25005547G>A uc003grf.2 - 7 1263 c.1164C>T c.(1162-1164)atC>atT p.I388I NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA. 388 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) GGCTGGACAGGATGAGATGCG 0.502000 102 4 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140308470 140308470 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140308470C>T uc003lih.2 + 0 2169 c.1993C>T c.(1993-1995)Cca>Tca p.P665S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.P665S NM_018898 NP_061721 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA. 689 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGTTACTTCCAGACTTTGA 0.502000 120 7 0 0 1 0 0 ITCH 83737 broad.mit.edu 37 20 33068912 33068912 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:33068912C>T uc010geu.1 + 20 2309 c.2117C>T c.(2116-2118)tCc>tTc p.S706F ITCH_uc002xak.2_Missense_Mutation_p.S665F|ITCH_uc010zuj.1_Missense_Mutation_p.S555F NM_031483 NP_113671 Q96J02 ITCH_HUMAN Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA. 706 HECT. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 ATGTACTTCTCCGTTGACAAA 0.318000 94 12 0 0 1 0 0 C7orf58 79974 broad.mit.edu 37 7 120911337 120911337 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:120911337G>A uc003vjq.4 + 22 3169 c.2722_splice c.e22-1 p.S908_splice NM_024913 NP_079189 A4D0V7 CG058_HUMAN Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA. 908 endoplasmic reticulum breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 66 all_neural(327;0.117) TTTCCAATCAGAGTGAAGTAC 0.318000 27 3 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24578672 24578672 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:24578672C>T uc002dmh.3 + 14 2838 c.1798C>T c.(1798-1800)Cct>Tct p.P600S RBBP6_uc010vcb.1_Missense_Mutation_p.P467S|RBBP6_uc002dmi.3_Missense_Mutation_p.P600S|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.P467S NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA. 600 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) GTATAGTGTCCCTCCTCCAGG 0.547000 348 29 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231409 7231409 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:7231409G>A uc010wzk.2 + 0 273 c.273G>A c.(271-273)ggG>ggA p.G91G NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA. 91 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 CCGAGGTGGGGAAACTGACCC 0.577000 64 4 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61306888 61306888 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:61306888C>T uc002ljf.3 - 5 678 c.592G>A c.(592-594)Gaa>Aaa p.E198K SERPINB3_uc002lje.3_Missense_Mutation_p.E198K|SERPINB3_uc002ljg.3_Intron NM_002974 NP_002965 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA. 198 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity p.E197Q(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 CAAAATTTTTCCTCTTTAGTG 0.308000 23 3 0 0 1 0 0 QPCTL 54814 broad.mit.edu 37 19 46202120 46202120 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:46202120C>T uc010xxr.2 + 4 1069 c.848C>T c.(847-849)cCt>cTt p.P283L QPCTL_uc010ekn.3_Missense_Mutation_p.P189L NM_017659 NP_060129 Q9NXS2 QPCTL_HUMAN Homo sapiens glutaminyl-peptide cyclotransferase-like (QPCTL), transcript variant 1, mRNA. 283 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis Golgi membrane|integral to membrane acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1) 11 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208) AGCCACTTCCCTCGCACGGTC 0.622000 140 19 0 0 1 0 0 C12orf63 374467 broad.mit.edu 37 12 97045402 97045402 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:97045402C>T uc021rcc.1 + 2 262 c.184C>T c.(184-186)Cag>Tag p.Q62* Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 62 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GACTCTGCTTCAGAACTGCTG 0.393000 113 9 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951218 119951218 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:119951218G>A uc010inb.3 + 3 1484 c.1288G>A c.(1288-1290)Gag>Aag p.E430K SYNPO2_uc010ina.3_Missense_Mutation_p.E430K|SYNPO2_uc003icm.4_Missense_Mutation_p.E430K|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.E358K|SYNPO2_uc021xrd.1_5'Flank NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 430 Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGGTGACAAGGAGGATACATG 0.493000 89 6 0 0 1 0 0 BRPF1 7862 broad.mit.edu 37 3 9789031 9789031 + Nonstop_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:9789031T>C uc003bse.3 + 13 4042 c.3643T>C c.(3643-3645)Tga>Cga p.*1215R BRPF1_uc003bsf.3_Nonstop_Mutation_p.*1221R|BRPF1_uc003bsg.3_Nonstop_Mutation_p.*1214R|BRPF1_uc011ati.2_Nonstop_Mutation_p.*1120R|OGG1_uc003bsj.3_5'Flank|OGG1_uc003bsi.3_5'Flank|OGG1_uc003bsh.3_5'Flank|OGG1_uc003bsl.3_5'Flank|OGG1_uc003bsk.3_5'Flank|OGG1_uc003bsm.3_5'Flank|OGG1_uc003bsn.3_5'Flank|OGG1_uc003bso.3_5'Flank NM_004634 NP_004625 P55201 BRPF1_HUMAN Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA. 0 histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) CGATAGTGATTGATACTGCTC 0.562000 123 15 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117120199 117120199 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:117120199C>T uc003vjd.3 + 0 183 c.51C>T c.(49-51)ttC>ttT p.F17F CFTR_uc011knq.2_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 17 respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AACTTTTTTTCAGGTGAGAAG 0.567000 Cystic Fibrosis 78 7 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8976784 8976784 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:8976784C>T uc002mkp.3 - 72 42486 c.42282G>A c.(42280-42282)aaG>aaA p.K14094K MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.K894K|MUC16_uc021uog.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 14125 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGCTGAGCCCTTGCCCATAT 0.572000 51 6 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118581976 118581976 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:118581976C>T uc001ehk.2 - 22 3326 c.3258G>A c.(3256-3258)gaG>gaA p.E1086E NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 1086 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) AATCCCCTTTCTCTTCCTTTT 0.373000 30 5 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13786343 13786343 + Missense_Mutation SNP C T T rs148539877 by1000genomes TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:13786343C>T uc003jfd.2 - 51 8807 c.8765G>A c.(8764-8766)cGt>cAt p.R2922H NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2922 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R2922H(2) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCCGGCGCCACGGATGCTCTC 0.458000 Kartagener syndrome 30 3 0 0 1 0 0 TAAR6 319100 broad.mit.edu 37 6 132891890 132891890 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:132891890T>C uc011eck.2 + 0 430 c.430T>C c.(430-432)Ttc>Ctc p.F144L NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA. 144 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TCCTACCAAGTTCACCGTATC 0.498000 248 22 0 0 1 0 0 TICAM1 148022 broad.mit.edu 37 19 4817416 4817416 + Missense_Mutation SNP G A A rs139641703 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:4817416G>A uc002mbi.3 - 1 1225 c.974C>T c.(973-975)cCc>cTc p.P325L TICAM1_uc021unj.1_Missense_Mutation_p.P325L NM_182919 NP_891549 Q8IUC6 TCAM1_HUMAN Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA. 325 Pro-rich. I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity p.P325P(1) NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GACAGAGCAGGGGTTTTTGAC 0.572000 53 8 0 0 1 0 0 PSAPL1 768239 broad.mit.edu 37 4 7435545 7435545 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:7435545G>A uc011bwj.2 - 0 1156 c.1062C>T c.(1060-1062)atC>atT p.I354I SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron NM_001085382 NP_001078851 Q6NUJ1 SAPL1_HUMAN Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA. 354 Saposin B-type 3. sphingolipid metabolic process extracellular region|lysosome lung(4) 4 TCTCTGGGGTGATTTTGGCCA 0.602000 218 8 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39992363 39992363 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:39992363C>T uc002xjy.1 - 2 653 c.429G>A c.(427-429)ctG>ctA p.L143L NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA. 143 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) GCTCAGGCTCCAGCTGGGGTG 0.652000 116 9 0 0 1 0 0 PGBD1 84547 broad.mit.edu 37 6 28269385 28269385 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:28269385C>T uc003nky.3 + 6 2174 c.1754C>T c.(1753-1755)cCc>cTc p.P585L PGBD1_uc003nkz.3_Missense_Mutation_p.P585L NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA. 585 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 TGGTTTGAACCCTATCAAGAA 0.398000 69 10 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71008183 71008183 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:71008183G>A uc002ezr.3 - 32 5078 c.4927C>T c.(4927-4929)Cgt>Tgt p.R1643C NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 1644 p.R1643C(1)|p.R1595C(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTCTTTACACGATCTAGCTCA 0.428000 11 3 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120973939 120973939 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:120973939G>A uc003eec.4 + 15 1779 c.1639G>A c.(1639-1641)Gaa>Aaa p.E547K STXBP5L_uc011bji.2_Missense_Mutation_p.E547K NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 547 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CAGCAGACATGAAATTACAAC 0.308000 38 3 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14823314 14823314 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:14823314G>A uc003zlm.3 - 13 2997 c.2181C>T c.(2179-2181)aaC>aaT p.N727N FREM1_uc010mic.3_Non-coding_Transcript NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 727 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CTTTCATATAGTTCACAGCAT 0.443000 190 26 0 0 1 0 0 CAMKK2 10645 broad.mit.edu 37 12 121691110 121691110 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:121691110G>A uc001tzv.3 - 9 1902 c.1073C>T c.(1072-1074)tCg>tTg p.S358L CAMKK2_uc001tzt.3_Missense_Mutation_p.S358L|CAMKK2_uc001tzu.3_Missense_Mutation_p.S358L|CAMKK2_uc001tzw.3_Missense_Mutation_p.S358L|CAMKK2_uc001tzx.3_Missense_Mutation_p.S358L|CAMKK2_uc001tzy.3_Missense_Mutation_p.S358L|CAMKK2_uc001tzz.1_Missense_Mutation_p.S145L|CAMKK2_uc001uaa.1_Missense_Mutation_p.S358L|CAMKK2_uc001uab.3_Missense_Mutation_p.S358L|CAMKK2_uc001uac.3_Missense_Mutation_p.S358L NM_006549 NP_006540 Q96RR4 KKCC2_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA. 358 Protein kinase. MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTCAGAGAGCGACTCGGGTGC 0.562000 78 5 0 0 1 0 0 OSTalpha 200931 broad.mit.edu 37 3 195955082 195955082 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:195955082G>A uc003fwd.3 + 4 660 c.459G>A c.(457-459)atG>atA p.M153I OSTalpha_uc010iac.1_Missense_Mutation_p.M37I|OSTalpha_uc003fwe.3_Missense_Mutation_p.M20I NM_152672 NP_689885 Q86UW1 OSTA_HUMAN Homo sapiens organic solute transporter alpha (OSTalpha), mRNA. 153 integral to membrane|plasma membrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06) GBM - Glioblastoma multiforme(46;0.00202) ACACCCCGATGATGGTCCACA 0.647000 223 17 0 0 1 0 0 FLJ38723 0 broad.mit.edu 37 15 62539750 62539750 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:62539750C>T uc002ajj.1 - 2 228 c.220G>A c.(220-222)Gaa>Aaa p.E74K FLJ38723_uc002ain.1_Intron|DQ590682_uc002ajw.3_Non-coding_Transcript|DQ578824_uc010uhq.2_5'Flank|DQ573543_uc002ajx.3_5'Flank|DQ596057_uc002ajy.3_5'Flank|DQ586930_uc021soh.1_5'Flank|DQ592483_uc021soi.1_5'Flank RecName: Full=Golgin subfamily A member 2-like protein 4; TGTGCCCGTTCGTCTGTGGGC 0.562000 38 5 0 0 1 0 0 TAF3 83860 broad.mit.edu 37 10 8051084 8051084 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:8051084C>T uc010qbd.2 + 4 2359 c.2359C>T c.(2359-2361)Ccc>Tcc p.P787S NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA. 787 Pro-rich. maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 CAAGCCGGCGCCCTCGCAGAA 0.662000 117 8 0 0 1 0 0 GPR148 344561 broad.mit.edu 37 2 131487693 131487693 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:131487693C>T uc002trv.2 + 0 1051 c.969C>T c.(967-969)cgC>cgT p.R323R NM_207364 NP_997247 Q8TDV2 GP148_HUMAN Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA. 323 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) ACCTGCTCCGCTACCGGCAGC 0.567000 59 8 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100232789 100232789 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:100232789C>T uc003hus.4 - 6 937 c.853G>A c.(853-855)Gag>Aag p.E285K ADH1B_uc003hut.4_Missense_Mutation_p.E245K|ADH1B_uc011ceh.2_Missense_Mutation_p.E130K|ADH1B_uc011cei.1_Missense_Mutation_p.E245K NM_000668 NP_000659 P00325 ADH1B_HUMAN Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA. 285 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) CCACATGCCTCATGACAACAT 0.473000 138 11 0 0 1 0 0 FBXO39 162517 broad.mit.edu 37 17 6684051 6684051 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:6684051C>T uc010vtg.2 + 1 984 c.864C>T c.(862-864)ttC>ttT p.F288F NM_153230 NP_694962 Q8N4B4 FBX39_HUMAN Homo sapiens F-box protein 39 (FBXO39), mRNA. 288 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 TGAACTTCTTCTTTGAACGGA 0.537000 44 3 0 0 1 0 0 OR5AP2 338675 broad.mit.edu 37 11 56408980 56408980 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:56408980C>T uc001njb.1 - 0 936 c.936G>A c.(934-936)tgG>tgA p.W312* OR8U8_uc001nit.2_Intron NM_001002925 NP_001002925 Q8NGF4 O5AP2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA. 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 AGATGTGTTTCCATAAGATCT 0.328000 74 4 0 0 1 0 0 TAF7L 54457 broad.mit.edu 37 X 100547999 100547999 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:100547999G>A uc004ehb.3 - 0 61 c.35C>T c.(34-36)tCa>tTa p.S12L TAF7L_uc004ehc.2_5'Flank NM_024885 NP_001161946 Q5H9L4 TAF7L_HUMAN Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA. 12 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 ATCATTTTCTGAAGAAATGGG 0.498000 240 42 0 0 1 0 0 SYT12 91683 broad.mit.edu 37 11 66807513 66807513 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:66807513G>A uc009yrl.3 + 3 690 c.460G>A c.(460-462)Ggc>Agc p.G154S SYT12_uc001oju.3_Missense_Mutation_p.G154S NM_001177880 NP_808878 Q8IV01 SYT12_HUMAN Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA. 154 cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 CTTCACACTGGGCCAGGTGGA 0.642000 102 9 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134988271 134988271 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:134988271G>A uc004ezh.3 + 5 710 c.543G>A c.(541-543)ggG>ggA p.G181G SAGE1_uc010nry.1_Silent_p.G150G|SAGE1_uc011mvv.2_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN Homo sapiens sarcoma antigen 1 (SAGE1), mRNA. 181 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) GTCCCACAGGGCTTATTAATA 0.433000 63 15 0 0 1 0 0 OR11L1 391189 broad.mit.edu 37 1 248004519 248004519 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:248004519C>T uc001idn.1 - 0 680 c.680G>A c.(679-681)aGa>aAa p.R227K NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA. 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGAAGGGATTCTCAATATGGA 0.493000 57 3 0 0 1 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25264346 25264346 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:25264346G>A uc002dod.4 - 2 1006 c.599C>T c.(598-600)cCc>cTc p.P200L ZKSCAN2_uc010vcl.2_5'UTR|ZKSCAN2_uc002doe.2_Missense_Mutation_p.P200L NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA. 200 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) AGGAACCCAGGGAGAAGGCCG 0.438000 146 12 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150839561 150839561 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:150839561G>A uc004fev.4 + 11 1455 c.1123G>A c.(1123-1125)Gaa>Aaa p.E375K NM_173493 NP_775764 Q8IV76 PASD1_HUMAN Homo sapiens PAS domain containing 1 (PASD1), mRNA. 375 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CCAGGAACTGGAACTGATGAA 0.443000 124 20 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3688073 3688073 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:3688073G>A uc001akv.2 + 11 2038 c.1957G>A c.(1957-1959)Ggg>Agg p.G653R LOC388588_uc001akw.4_5'Flank NM_152492 NP_689705 Q2M243 CCD27_HUMAN Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA. 653 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) ATCCAAGAAGGGGACCTCCAA 0.612000 85 8 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76657234 76657234 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:76657234C>T uc003pik.1 - 13 1971 c.1841G>A c.(1840-1842)cGa>cAa p.R614Q NM_001563 NP_001554 Q17R60 IMPG1_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA. 614 SEA 2. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) AAGATTGGATCGTAGATATGG 0.373000 32 4 0 0 1 0 0 ADH1C 126 broad.mit.edu 37 4 100257891 100257891 + RNA SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:100257891G>A uc021xqi.1 - 8 c.1231C>T NM_000669 P00326 ADH1G_HUMAN Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA. ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) TGCTACAAGGGAAGGCATCTG 0.398000 31 3 0 0 1 0 0 ORM1 5004 broad.mit.edu 37 9 117087381 117087381 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:117087381C>T uc004bik.4 + 4 600 c.489C>T c.(487-489)ctC>ctT p.L163L ORM1_uc011lxo.2_Intron NM_000607 NP_000598 P02763 A1AG1_HUMAN Homo sapiens orosomucoid 1 (ORM1), mRNA. 163 acute-phase response|regulation of immune system process|transport extracellular space protein binding endometrium(2)|large_intestine(4)|lung(2) 8 Myeloproliferative disorder(63;0.163) Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706) ACGAAGCTCTCGACTGCTTGC 0.572000 117 33 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945546 16945546 + RNA SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:16945546C>A uc010ocf.2 - 3 c.611G>T CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA. GTGCCGTGTACCCATCAACTT 0.632000 581 16 1.99824e-07 2.01616e-07 1 1 0 ARHGEF5 7984 broad.mit.edu 37 7 144060423 144060423 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:144060423C>T uc003wel.3 + 1 779 c.661C>T c.(661-663)Ctc>Ttc p.L221F ARHGEF5_uc003wek.3_Missense_Mutation_p.L221F NM_005435 NP_005426 Q12774 ARHG5_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA. 221 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding p.G220E(1) breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) AAGTCAAGGGCTCTTGCATCC 0.572000 315 9 0 0 1 0 0 ADH4 127 broad.mit.edu 37 4 100057780 100057780 + Missense_Mutation SNP C T T rs139053416 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:100057780C>T uc003hun.3 - 4 495 c.419G>A c.(418-420)gGa>gAa p.G140E LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Missense_Mutation_p.G159E NM_000670 NP_000661 P08319 ADH4_HUMAN Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA. 140 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding p.G140E(2) NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) AACTGGTTTTCCTTTGCAGGT 0.348000 57 4 0 0 1 0 0 TRAF6 7189 broad.mit.edu 37 11 36511732 36511732 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:36511732G>A uc001mwq.2 - 7 1606 c.1225C>T c.(1225-1227)Ctt>Ttt p.L409F TRAF6_uc001mws.2_Missense_Mutation_p.L409F NM_145803 NP_665802 Q9Y4K3 TRAF6_HUMAN Homo sapiens TNF receptor-associated factor 6 (TRAF6), transcript variant 1, mRNA. 409 MATH. JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of osteoclast differentiation|protein K63-linked ubiquitination|protein autoubiquitination|response to interleukin-1|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein N-terminus binding|protein kinase B binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1) 27 all_lung(20;0.211) all_hematologic(20;0.107) TGGACAAAAAGGGATATATAG 0.493000 53 3 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183707070 183707070 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:183707070G>A uc003fmg.3 - 2 396 c.231C>T c.(229-231)ccC>ccT p.P77P ABCC5_uc011bqt.2_5'UTR|ABCC5_uc010hxl.3_Silent_p.P77P|ABCC5_uc003fmh.3_Silent_p.P77P|ABCC5_uc010hxm.3_Non-coding_Transcript|ABCC5_uc010hxn.3_Silent_p.P77P|ABCC5_uc010hxo.3_Silent_p.P77P NM_005688 NP_005679 O15440 MRP5_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA. 77 integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ACTTTCCCTTGGGATGCTCCT 0.532000 54 7 0 0 1 0 0 ZNF551 90233 broad.mit.edu 37 19 58198992 58198992 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:58198992G>A uc002qpw.4 + 2 1524 c.1301G>A c.(1300-1302)aGa>aAa p.R434K ZNF551_uc002qpv.4_Missense_Mutation_p.R377K|ZNF551_uc002qpx.3_Intron NM_138347 NP_612356 Q7Z340 ZN551_HUMAN Homo sapiens zinc finger protein 551 (ZNF551), mRNA. 450 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TATGAATGCAGAGAATGTGGG 0.428000 118 20 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152500373 152500373 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:152500373C>T uc021vrb.1 - 54 7944 c.7915G>A c.(7915-7917)Gat>Aat p.D2639N NEB_uc002txu.3_Missense_Mutation_p.D2639N|NEB_uc021vrc.1_Missense_Mutation_p.D2639N|NEB_uc010fnx.3_Missense_Mutation_p.D2639N|NEB_uc021vrd.1_Missense_Mutation_p.D2639N NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 2639 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGGATGACATCGCTCTGGTCG 0.512000 191 13 0 0 1 0 0 TTC12 54970 broad.mit.edu 37 11 113209547 113209547 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:113209547C>T uc001pnv.3 + 8 751 c.646C>T c.(646-648)Cag>Tag p.Q216* TTC12_uc001pnu.3_Nonsense_Mutation_p.Q210*|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Nonsense_Mutation_p.Q60* NM_017868 NP_060338 Q9H892 TTC12_HUMAN Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA. 210 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) GCTGCAAACCCAGGTGAAAGG 0.483000 93 5 0 0 1 0 0 EMID2 136227 broad.mit.edu 37 7 101200735 101200735 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:101200735C>T uc010lhy.1 + 12 1422 c.1230C>T c.(1228-1230)ccC>ccT p.P410P EMID2_uc003uyo.1_3'UTR NM_133457 NP_597714 Q96A83 EMID2_HUMAN Homo sapiens EMI domain containing 2 (EMID2), mRNA. 417 collagen breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 18 Lung NSC(181;0.215) GCGCCCAACCCGATGGGGTCC 0.647000 39 4 0 0 1 0 0 RNF126 55658 broad.mit.edu 37 19 652848 652848 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:652848C>T uc010drs.3 - 1 224 c.112G>A c.(112-114)Gag>Aag p.E38K NM_194460 NP_919442 Q9BV68 RN126_HUMAN Homo sapiens ring finger protein 126 (RNF126), mRNA. 38 protein binding|zinc ion binding lung(1) 1 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAAGCTCCTCGATAAAACCA 0.597000 37 4 0 0 1 0 0 TMEM19 55266 broad.mit.edu 37 12 72083432 72083432 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:72083432C>T uc001sws.3 + 1 775 c.192C>T c.(190-192)atC>atT p.I64I TMEM19_uc001swr.1_Silent_p.I50I NM_018279 NP_060749 Q96HH6 TMM19_HUMAN Homo sapiens transmembrane protein 19 (TMEM19), mRNA. 64 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGTTCTGATCGTCTCTAATG 0.383000 146 11 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123419581 123419581 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:123419581C>T uc003ego.3 - 17 3016 c.2734G>A c.(2734-2736)Gaa>Aaa p.E912K MYLK_uc011bjw.2_Missense_Mutation_p.E912K|MYLK_uc003egp.3_Missense_Mutation_p.E843K|MYLK_uc003egq.3_Missense_Mutation_p.E912K|MYLK_uc003egr.3_Missense_Mutation_p.E843K|MYLK_uc003egs.3_Missense_Mutation_p.E736K|MYLK_uc003egt.3_Missense_Mutation_p.E103K NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 912 5 X 28 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) AGGTCGTCTTCCGATAGGGTC 0.582000 71 12 0 0 1 0 0 SLC25A48 153328 broad.mit.edu 37 5 135188435 135188435 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:135188435G>A uc003laz.1 + 3 518 c.346G>A c.(346-348)Gtc>Atc p.V116I SLC25A48_uc003lba.3_Missense_Mutation_p.V116I Q6ZT89 S2548_HUMAN Homo sapiens solute carrier family 25, member 48 (SLC25A48), nuclear gene encoding mitochondrial protein, mRNA. 116 transmembrane transport integral to membrane|mitochondrial inner membrane binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 GGCCGGCGTGGTCTCTGTCGG 0.677000 41 3 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43223480 43223480 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:43223480G>A uc003ouq.1 + 8 1026 c.747G>A c.(745-747)ggG>ggA p.G249G NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA. 249 Protein kinase. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) AACAGGTAGGGATGATCAAGG 0.582000 125 7 0 0 1 0 0 KLRC2 3822 broad.mit.edu 37 12 10569321 10569321 + Missense_Mutation SNP G A A rs138941727 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:10569321G>A uc001qyi.1 - 4 577 c.532C>T c.(532-534)Cgt>Tgt p.R178C KLRC2_uc001qyf.3_Missense_Mutation_p.R178C|KLRC2_uc021qvc.1_Missense_Mutation_p.R178C|KLRC2_uc001qyh.3_Missense_Mutation_p.R178C|KLRC2_uc021qvd.1_Missense_Mutation_p.R178C NM_007333 NP_031359 P26717 NKG2C_HUMAN Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA. 177 C-type lectin. cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity p.R178C(1) kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 CTGCTGTTACGAAACACACCA 0.294000 57 6 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073120 17073120 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:17073120G>A uc002zlp.1 - 0 581 c.321C>T c.(319-321)ttC>ttT p.F107F NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA. 107 cellular protein metabolic process cytoplasm ATP binding|anion channel activity|calcium-activated potassium channel activity p.F107F(2) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GCAGAACCACGAAGGCTGTGC 0.662000 88 4 0 0 1 0 0 DPPA3 359787 broad.mit.edu 37 12 7868018 7868018 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:7868018C>T uc001qtf.3 + 1 400 c.322C>T c.(322-324)Cgt>Tgt p.R108C NM_199286 NP_954980 Q6W0C5 DPPA3_HUMAN Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA. 108 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) CGGCGGAGTTCGTACGGTATG 0.483000 71 9 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37490169 37490169 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:37490169C>T uc021ppc.1 + 30 2716 c.2617C>T c.(2617-2619)Cgt>Tgt p.R873C ANKRD30A_uc001iza.1_Missense_Mutation_p.R873C NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 929 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ACAGAGTCTCCGTGAGACTGT 0.274000 63 7 0 0 1 0 0 BRD3 8019 broad.mit.edu 37 9 136916766 136916766 + Silent SNP C T T rs12339799 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:136916766C>T uc004cew.3 - 3 605 c.417G>A c.(415-417)caG>caA p.Q139Q BRD3_uc004cex.2_Silent_p.Q139Q NM_007371 NP_031397 Q15059 BRD3_HUMAN Homo sapiens bromodomain containing 3 (BRD3), mRNA. 139 nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) CTTGGGGCATCTGGGCCACTT 0.532000 T C15orf55 lethal midline carcinoma of young people 44 11 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23914626 23914626 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:23914626G>A uc001uon.2 - 9 3978 c.3389C>T c.(3388-3390)aCc>aTc p.T1130I SACS_uc001uoo.2_Missense_Mutation_p.T983I|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 1130 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CAGTAAGAGGGTTTTGGCTTT 0.393000 121 18 0 0 1 0 0 CERS6 253782 broad.mit.edu 37 2 169626019 169626019 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:169626019G>A uc002uec.1 + 11 1151 c.1027_splice c.e11-1 p.V343_splice CERS6_uc002ueb.1_Splice_Site_p.V335_splice NM_203463 NP_982288 Q6ZMG9 CERS6_HUMAN Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA. 335 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity CTACTCCACAGGTGTCCAAGG 0.488000 79 8 0 0 1 0 0 RGNEF 64283 broad.mit.edu 37 5 73072419 73072419 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:73072419G>A uc010izf.3 + 5 914 c.738G>A c.(736-738)tcG>tcA p.S246S RGNEF_uc011csq.2_Silent_p.S246S|RGNEF_uc003kcy.1_Silent_p.S246S|RGNEF_uc021yam.1_Silent_p.S246S NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA. 246 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) TTCACTCATCGGAAACGCTGA 0.473000 161 7 0 0 1 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74623609 74623609 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:74623609G>A uc002jsh.3 - 2 1062 c.888C>T c.(886-888)ctC>ctT p.L296L ST6GALNAC1_uc002jsi.3_Silent_p.L164L|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript NM_018414 NP_060884 Q9NSC7 SIA7A_HUMAN Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA. 296 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 TGGGCAGAAAGAGTTTCTGGA 0.532000 132 10 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35727789 35727789 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:35727789G>A uc003jjo.3 + 20 3038 c.2927G>A c.(2926-2928)gGa>gAa p.G976E SPEF2_uc003jjp.1_Missense_Mutation_p.G462E NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 976 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCTCCTAAAGGAAAATCATCA 0.383000 64 4 0 0 1 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15884953 15884953 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:15884953G>A uc010xor.1 - 1 129 c.109C>T c.(109-111)Cgg>Tgg p.R37W CYP4F24P_uc002nbo.3_Non-coding_Transcript Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA. GTCAGCATCCGACGGTGGCGG 0.552000 21 3 0 0 1 0 0 PGBD4 161779 broad.mit.edu 37 15 34396264 34396264 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:34396264C>T uc001zho.3 + 0 1991 c.1532C>T c.(1531-1533)tCc>tTc p.S511F C15orf24_uc001zhm.3_5'Flank NM_152595 NP_689808 Q96DM1 PGBD4_HUMAN Homo sapiens piggyBac transposable element derived 4 (PGBD4), mRNA. 511 breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1) 16 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) CGTCCTTGCTCCGATGATGTC 0.488000 32 6 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123970103 123970103 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:123970103C>T uc001lfv.3 + 8 6523 c.6163C>T c.(6163-6165)Cgt>Tgt p.R2055C TACC2_uc001lfw.3_Missense_Mutation_p.R201C|TACC2_uc009xzx.3_Missense_Mutation_p.R2010C|TACC2_uc010qtv.2_Missense_Mutation_p.R2059C|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Missense_Mutation_p.R133C|TACC2_uc001lga.3_Missense_Mutation_p.R133C|TACC2_uc009xzy.3_Missense_Mutation_p.R133C|TACC2_uc001lgb.3_Missense_Mutation_p.R90C|TACC2_uc010qtw.1_Missense_Mutation_p.R150C NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 2055 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTTGGAGCCTCGTGCCTCAGA 0.527000 82 10 0 0 1 0 0 ADCY3 109 broad.mit.edu 37 2 25044463 25044463 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:25044463G>A uc010ykm.2 - 18 3252 c.3053C>T c.(3052-3054)gCc>gTc p.A1018V CENPO_uc002rfp.2_3'UTR|CENPO_uc002rfq.2_3'UTR|ADCY3_uc002rfr.4_Missense_Mutation_p.A604V|ADCY3_uc002rfs.4_Missense_Mutation_p.A1017V NM_004036 NP_004027 O60266 ADCY3_HUMAN Homo sapiens adenylate cyclase 3 (ADCY3), mRNA. 1017 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CGCGAAGTCGGCCAGGTCAGC 0.607000 287 14 0 0 1 0 0 SKA1 220134 broad.mit.edu 37 18 47918586 47918586 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:47918586G>A uc002let.3 + 6 921 c.737G>A c.(736-738)gGg>gAg p.G246E SKA1_uc002leu.3_Missense_Mutation_p.G246E|SKA1_uc010xdl.2_Missense_Mutation_p.G200E NM_145060 NP_659497 Q96BD8 SKA1_HUMAN Homo sapiens spindle and kinetochore associated complex subunit 1 (SKA1), transcript variant 2, mRNA. 246 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding p.R245Q(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1) 13 GAGGTCCGAGGGGGAGGACTT 0.403000 102 6 0 0 1 0 0 AOC3 8639 broad.mit.edu 37 17 41006556 41006556 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:41006556G>A uc002ibv.3 + 1 1852 c.1692G>A c.(1690-1692)gtG>gtA p.V564V NM_003734 NP_003725 Q16853 AOC3_HUMAN Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA. 564 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) GGCTGCAGGTGACCCGGAAGC 0.642000 62 6 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65409615 65409615 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:65409615G>A uc011moz.2 + 5 1197 c.1060G>A c.(1060-1062)Gaa>Aaa p.E354K HEPH_uc004dwn.3_Missense_Mutation_p.E303K|HEPH_uc004dwo.3_Missense_Mutation_p.E33K|HEPH_uc010nkr.3_Missense_Mutation_p.E303K|HEPH_uc011mpa.2_Missense_Mutation_p.E303K NM_138737 NP_055614 Q9BQS7 HEPH_HUMAN Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA. 300 Plastocyanin-like 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CATGGGCAATGAAATTGATGT 0.468000 35 3 0 0 1 0 0 MSRB3 253827 broad.mit.edu 37 12 65847568 65847568 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:65847568C>T uc001ssn.3 + 4 500 c.374C>T c.(373-375)tCc>tTc p.S125F MSRB3_uc009zqp.3_Missense_Mutation_p.S118F|MSRB3_uc001ssm.3_Missense_Mutation_p.S118F|MSRB3_uc021qzy.1_Missense_Mutation_p.S118F NM_198080 NP_932346 Q8IXL7 MSRB3_HUMAN Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA. 125 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) GATGACTTTTCCTATGGGATG 0.458000 76 5 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20959876 20959876 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:20959876C>T uc010vbe.2 - 56 11272 c.11272G>A c.(11272-11274)Gaa>Aaa p.E3758K DNAH3_uc010vbd.2_Missense_Mutation_p.E1193K NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 3758 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCCTCAATTTCCTTACAGTAG 0.532000 29 4 0 0 1 0 0 SSTR2 6752 broad.mit.edu 37 17 71166024 71166025 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:71166024_71166025GG>AA uc002jje.3 + 1 926_927 c.566_567GG>AA c.(565-567)ggg>gAA p.G189E SSTR2_uc021ucm.1_Missense_Mutation_p.G189E NM_001050 NP_001041 P30874 SSR2_HUMAN Homo sapiens somatostatin receptor 2 (SSTR2), mRNA. 189 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) AACCAGTGGGGGAGAAGCAGCT 0.564000 62 4 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100239257 100239257 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:100239257C>T uc003hus.4 - 2 289 c.205G>A c.(205-207)Gag>Aag p.E69K ADH1B_uc003hut.4_Missense_Mutation_p.E29K|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.E29K NM_000668 NP_000659 P00325 ADH1B_HUMAN Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA. 69 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) CCGGCTGCCTCATGGCCTAAA 0.522000 197 11 0 0 1 0 0 DCUN1D1 54165 broad.mit.edu 37 3 182662918 182662918 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:182662918G>A uc003fld.1 - 6 793 c.744C>T c.(742-744)cgC>cgT p.R248R NM_020640 NP_065691 Q96GG9 DCNL1_HUMAN Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) (DCUN1D1), mRNA. 248 DCUN1. ubiquitin ligase complex protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) CAATTTGAGGGCGTGCAAATT 0.373000 50 4 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56703300 56703300 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:56703300C>T uc010ygh.2 - 1 507 c.507G>A c.(505-507)gtG>gtA p.V169V NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA. 169 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GCATCTGGTTCACAGAGGAGG 0.602000 64 9 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100831779 100831779 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:100831779A>T uc003yiv.3 + 47 8947 c.8836A>T c.(8836-8838)Ata>Tta p.I2946L VPS13B_uc003yiw.3_Missense_Mutation_p.I2921L NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 2946 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GCTTCAACCCATATGGCCCTA 0.368000 24 3 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96540377 96540377 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:96540377G>A uc010qnz.2 + 3 603 c.603G>A c.(601-603)ttG>ttA p.L201L CYP2C19_uc009xus.1_Silent_p.L66L|CYP2C19_uc010qny.2_Silent_p.L179L NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 201 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TGGAAAAATTGAATGAAAACA 0.403000 75 11 0 0 1 0 0 KRT2 3849 broad.mit.edu 37 12 53044219 53044219 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:53044219C>T uc001sat.3 - 1 737 c.704G>A c.(703-705)aGc>aAc p.S235N NM_000423 NP_000414 P35908 K22E_HUMAN Homo sapiens keratin 2 (KRT2), mRNA. 235 Coil 1B.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton p.D234N(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) TCTCTTGAGGCTGTCGATATA 0.473000 231 17 0 0 1 0 0 CENPP 401541 broad.mit.edu 37 9 95142075 95142075 + Missense_Mutation SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:95142075T>G uc004arz.3 + 4 1038 c.498T>G c.(496-498)ttT>ttG p.F166L CENPP_uc010mqx.3_Missense_Mutation_p.F54L NM_001012267 NP_001012267 Q6IPU0 CENPP_HUMAN Homo sapiens centromere protein P (CENPP), mRNA. 166 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1) 16 TGTTCATGTTTTTCCGAAGCC 0.318000 69 5 0 0 1 0 0 AGXT2 64902 broad.mit.edu 37 5 35014170 35014170 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:35014170C>T uc003jjf.3 - 9 1261 c.1018G>A c.(1018-1020)Gat>Aat p.D340N AGXT2_uc003jje.1_5'UTR|AGXT2_uc011com.2_Intron NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA. 340 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding p.H339H(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) GGCAGGACATCGTGGGTTTGG 0.502000 62 9 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935492 30935492 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:30935492G>A uc002nsu.1 + 1 1161 c.1023G>A c.(1021-1023)tcG>tcA p.S341S ZNF536_uc010edd.1_Silent_p.S341S NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GCGAGCAGTCGGCCAACGAGT 0.647000 224 9 0 0 1 0 0 PRSS36 146547 broad.mit.edu 37 16 31151930 31151930 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:31151930C>T uc002ebd.3 - 12 2109 c.2050G>A c.(2050-2052)Gag>Aag p.E684K PRSS36_uc010vff.2_Missense_Mutation_p.E459K|PRSS36_uc010vfg.2_Missense_Mutation_p.E679K|PRSS36_uc010vfh.2_Intron NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN Homo sapiens protease, serine, 36 (PRSS36), mRNA. 684 Peptidase S1 3. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 GAGCTCAGCTCCAGGAGGGCC 0.711000 22 4 0 0 1 0 0 CPSF6 11052 broad.mit.edu 37 12 69656203 69656203 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:69656203G>A uc001sut.4 + 8 1630 c.1520G>A c.(1519-1521)cGa>cAa p.R507Q CPSF6_uc001suu.4_Missense_Mutation_p.R544Q|CPSF6_uc010stk.2_Missense_Mutation_p.R139Q NM_007007 NP_008938 Q16630 CPSF6_HUMAN Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA. 507 Arg-rich. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) GAAAAGAGTCGACGTCATAAA 0.453000 58 11 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8176168 8176168 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:8176168G>A uc003wsh.4 - 4 3717 c.3717C>T c.(3715-3717)atC>atT p.I1239I NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA. 1239 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity AAGCAGACACGATCTCGGGGG 0.617000 68 5 0 0 1 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144077134 144077134 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:144077134G>A uc003wel.3 + 14 4897 c.4779G>A c.(4777-4779)gtG>gtA p.V1593V ARHGEF5_uc003wem.3_Silent_p.V394V NM_005435 NP_005426 Q12774 ARHG5_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA. 1593 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) TACAGCTGGTGGAACAGCAAG 0.542000 101 7 0 0 1 0 0 WDR67 93594 broad.mit.edu 37 8 124105836 124105836 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:124105836C>T uc003ypp.2 + 4 615 c.525C>T c.(523-525)ttC>ttT p.F175F WDR67_uc011lig.2_Silent_p.F175F|WDR67_uc011lih.2_Silent_p.F65F|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003ypo.1_Silent_p.F175F|WDR67_uc003ypr.3_Non-coding_Transcript NM_145647 NP_663622 Q96DN5 WDR67_HUMAN Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA. 175 centrosome Rab GTPase activator activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CTTAGGTTTTCTTTCTACCAT 0.299000 62 9 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112452237 112452237 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:112452237G>A uc003pvu.2 - 28 4210 c.3901C>T c.(3901-3903)Cag>Tag p.Q1301* LAMA4_uc003pvv.2_Nonsense_Mutation_p.Q1294*|LAMA4_uc003pvt.2_Nonsense_Mutation_p.Q1294* NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA. 1301 Laminin G-like 3. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding p.Y1300Y(1) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TCTACTGACTGAACTTTGATT 0.443000 59 5 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77353455 77353456 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:77353455_77353456CC>TT uc004ajl.1 - 35 5881_5882 c.5643_5644GG>AA c.(5641-5646)ggggag>ggAAag p.E1882K TRPM6_uc004ajk.1_Missense_Mutation_p.E1877K|TRPM6_uc022bib.1_Missense_Mutation_p.E1877K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.E833K|TRPM6_uc010mpd.1_Missense_Mutation_p.E715K|TRPM6_uc010mpe.1_Missense_Mutation_p.E429K|TRPM6_uc004ajj.1_Missense_Mutation_p.E838K NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 1882 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.G1881W(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TTCCGGAACTCCCCTGTCATAT 0.465000 54 4 0 0 1 0 0 STAP1 26228 broad.mit.edu 37 4 68441139 68441139 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:68441139C>T uc003hde.4 + 2 311 c.229C>T c.(229-231)Ctt>Ttt p.L77F STAP1_uc003hdf.3_Missense_Mutation_p.L77F NM_012108 NP_036240 Q9ULZ2 STAP1_HUMAN Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA. 77 PH. cellular membrane fusion|intracellular protein transport cytoplasm NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 CCTCACATGCCTTACTGAGCA 0.393000 80 6 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141754581 141754581 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141754581G>A uc003vwy.3 + 26 3241 c.3187G>A c.(3187-3189)Gaa>Aaa p.E1063K NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1063 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GAATCGGTATGAAGTTCCAGT 0.418000 217 12 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39088773 39088773 + Missense_Mutation SNP C T T rs145044261 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:39088773C>T uc002rrf.3 - 4 878 c.779G>A c.(778-780)gGa>gAa p.G260E DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Missense_Mutation_p.G260E NM_198963 NP_945314 Q6P158 DHX57_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA. 260 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) AAATTTTTCTCCACAGATGGA 0.433000 65 7 0 0 1 0 0 CD320 51293 broad.mit.edu 37 19 8367400 8367401 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:8367400_8367401CC>TT uc002mjj.2 - 4 861_862 c.795_796GG>AA c.(793-798)ctggtg>ctAAtg p.V266M CD320_uc002mjl.2_Missense_Mutation_p.V224M|CD320_uc002mjk.2_Non-coding_Transcript NM_016579 NP_057663 Q9NPF0 CD320_HUMAN Homo sapiens CD320 molecule (CD320), transcript variant 1, mRNA. 266 regulation of cell growth endoplasmic reticulum|integral to membrane growth factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2) 6 TTCATGGCCACCAGTAACCCCA 0.644000 115 9 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157667094 157667094 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:157667094G>A uc001fqz.4 - 5 972 c.680C>T c.(679-681)tCc>tTc p.S227F FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Missense_Mutation_p.S227F|FCRL3_uc001frc.1_Missense_Mutation_p.S227F NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Homo sapiens Fc receptor-like 3 (FCRL3), mRNA. 227 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) TCTGAAGAGGGAGAATTGCAG 0.587000 77 6 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153864362 153864362 + Missense_Mutation SNP G C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:153864362G>C uc003inf.2 + 0 228 c.153G>C c.(151-153)agG>agC p.R51S NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN Homo sapiens FH2 domain containing 1 (FHDC1), mRNA. 51 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) CATGTTCAAGGGAAGAGTGTC 0.612000 27 5 0 0 1 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68675728 68675728 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:68675728C>T uc001ook.1 + 2 474 c.372C>T c.(370-372)ttC>ttT p.F124F IGHMBP2_uc001ooj.1_Non-coding_Transcript NM_002180 NP_002171 P38935 SMBP2_HUMAN Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA. 124 DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CCCACGATTTCCAGTTGAGCT 0.507000 110 12 0 0 1 0 0 OR10C1 442194 broad.mit.edu 37 6 29408570 29408570 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:29408570C>T uc011dlp.2 + 0 855 c.778C>T c.(778-780)Cgc>Tgc p.R260C OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA. 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TATCTATATTCGCCCTAAGGC 0.582000 330 39 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84526505 84526505 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:84526505G>A uc004eeq.3 + 9 2981 c.2095G>A c.(2095-2097)Gac>Aac p.D699N ZNF711_uc004eep.3_Missense_Mutation_p.D653N|ZNF711_uc004eeo.3_Missense_Mutation_p.D653N|ZNF711_uc011mqy.1_Missense_Mutation_p.D252N NM_021998 NP_068838 Q9Y462 ZN711_HUMAN Homo sapiens zinc finger protein 711 (ZNF711), mRNA. 653 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 CAGGCACTGTGACTTTAAAAC 0.393000 24 6 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42476012 42476012 + Missense_Mutation SNP G A A rs145593760 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:42476012G>A uc002igw.2 - 7 3652 c.3433C>T c.(3433-3435)Ctt>Ttt p.L1145F GPATCH8_uc002igv.2_Missense_Mutation_p.L1067F|GPATCH8_uc010wiz.2_Missense_Mutation_p.L1067F NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA. 1145 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) ATCAGTGGAAGGACAGGCTTA 0.552000 281 22 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25443048 25443048 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:25443048C>T uc002wux.1 - 19 3627 c.3553G>A c.(3553-3555)Gag>Aag p.E1185K NINL_uc010gdn.1_Missense_Mutation_p.E836K NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN Homo sapiens ninein-like (NINL), mRNA. 1185 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 ACCACCTCCTCCAGGCTCTGT 0.607000 75 9 0 0 1 0 0 PRPF3 9129 broad.mit.edu 37 1 150318954 150318954 + Missense_Mutation SNP C G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:150318954C>G uc001eum.4 + 13 1992 c.1830C>G c.(1828-1830)aaC>aaG p.N610K PRPF3_uc010pca.2_Missense_Mutation_p.N569K|PRPF3_uc010pcb.2_Missense_Mutation_p.N561K NM_004698 NP_004689 O43395 PRPF3_HUMAN Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA. 610 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) AGACATCTAACACAAAGGGAG 0.483000 75 4 0 0 1 0 0 GALNT14 79623 broad.mit.edu 37 2 31155017 31155017 + Silent SNP G A A rs148988791 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:31155017G>A uc002rns.3 - 10 1630 c.990C>T c.(988-990)atC>atT p.I330I GALNT14_uc002rnq.3_Silent_p.I305I|GALNT14_uc010ymr.2_Silent_p.I290I|GALNT14_uc002rnr.3_Silent_p.I325I|GALNT14_uc010ezo.2_Silent_p.I292I|GALNT14_uc010ezp.1_3'UTR NM_001253826 NP_001240755 Q96FL9 GLT14_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA. 325 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) TGCAGGGGACGATCTCTAGGC 0.557000 138 11 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420374 105420374 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:105420374C>T uc010axc.1 - 6 1534 c.1414G>A c.(1414-1416)Gaa>Aaa p.E472K AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.E372K NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 472 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GTGCCTCCTTCGGTTGTGTCT 0.527000 66 13 0 0 1 0 0 PGC 5225 broad.mit.edu 37 6 41712416 41712416 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:41712416C>T uc003ora.2 - 1 257 c.190G>A c.(190-192)Gag>Aag p.E64K PGC_uc021yzm.1_Missense_Mutation_p.E64K NM_002630 NP_002621 P20142 PEPC_HUMAN Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA. 64 digestion|proteolysis extracellular space aspartic-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GCCATGGGCTCGTAGGTCACG 0.582000 56 4 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024443 55024443 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:55024443T>C uc002lgn.3 + 2 959 c.602T>C c.(601-603)gTt>gCt p.V201A NM_015879 NP_056963 O43173 SIA8C_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA. 201 N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) CAAAGAGATGTTGGAAGAAAA 0.423000 103 10 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31336347 31336347 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:31336347C>T uc002ebr.3 + 18 2459 c.2361C>T c.(2359-2361)ttC>ttT p.F787F ITGAM_uc002ebq.3_Silent_p.F786F|ITGAM_uc010can.3_Silent_p.F192F|ITGAM_uc002ebs.1_Silent_p.F192F|ITGAM_uc010vfj.1_5'Flank NM_001145808 NP_001139280 P11215 ITAM_HUMAN Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA. 786 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CCTTCAGTTTCATGAGGTGAG 0.478000 33 5 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155505313 155505313 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:155505313G>A uc003iod.1 - 5 2622 c.2564C>T c.(2563-2565)gCt>gTt p.A855V NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 855 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CATGCGAACAGCCCTGAGGGA 0.478000 86 4 0 0 1 0 0 HOXA1 3198 broad.mit.edu 37 7 27134339 27134339 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:27134339T>A uc003sye.3 - 1 822 c.728A>T c.(727-729)gAa>gTa p.E243V HOXA1_uc003syd.3_3'UTR|HOXA1_uc022aao.1_3'UTR|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA. 243 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CTTCTCCAGTTCCGTGAGCTG 0.582000 173 17 0 0 1 0 0 PDLIM1 9124 broad.mit.edu 37 10 97023694 97023694 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:97023694C>T uc001kkh.3 - 3 569 c.460G>A c.(460-462)Gaa>Aaa p.E154K NM_020992 NP_066272 O00151 PDLI1_HUMAN Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA. 154 response to oxidative stress cytoplasm|cytoskeleton zinc ion binding endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2) 10 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) GAGATATTTTCAGAAGAGTAG 0.557000 74 11 0 0 1 0 0 TMEM79 84283 broad.mit.edu 37 1 156261254 156261254 + Silent SNP G T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:156261254G>T uc010phi.2 + 3 1246 c.1050G>T c.(1048-1050)ctG>ctT p.L350L TMEM79_uc001fod.3_Silent_p.L191L|TMEM79_uc009wrw.3_Silent_p.L350L|C1orf85_uc001fof.4_Intron NM_032323 NP_115699 Q9BSE2 TMM79_HUMAN Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA. 350 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21 Hepatocellular(266;0.158) TGCCACTGCTGTCGATGCTGA 0.622000 216 24 3.65163e-15 3.6986e-15 1 1 0 OR10J1 26476 broad.mit.edu 37 1 159410164 159410164 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:159410164G>A uc010piv.2 + 0 653 c.616G>A c.(616-618)Gaa>Aaa p.E206K BC038194_uc001fts.4_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA. 206 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) CACTGTCAATGAAATCCTGAC 0.438000 140 21 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215815728 215815728 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:215815728T>C uc002vew.3 - 44 6947 c.6727A>G c.(6727-6729)Aga>Gga p.R2243G ABCA12_uc002vev.3_Missense_Mutation_p.R1925G|ABCA12_uc010zjn.2_Missense_Mutation_p.R1170G NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 2243 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTCTCAACTCTTAATCTCTCA 0.378000 148 11 0 0 1 0 0 MGMT 4255 broad.mit.edu 37 10 131334539 131334539 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:131334539A>G uc001lkh.2 + 1 142 c.116A>G c.(115-117)aAa>aGa p.K39R NM_002412 NP_002403 B4DEE8 B4DEE8_HUMAN Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA. 39 breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) TGTGAAATGAAACGCACCACA 0.453000 Direct reversal of damage 115 8 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51251579 51251579 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:51251579C>T uc011bds.2 + 13 1176 c.1153C>T c.(1153-1155)Cgt>Tgt p.R385C NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 385 cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity p.R385C(1) breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GCAGCTTCTTCGTGGAGACAT 0.383000 25 3 0 0 1 0 0 ABHD12 26090 broad.mit.edu 37 20 25287536 25287536 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:25287536G>A uc002wuq.3 - 9 1162 c.883C>T c.(883-885)Cct>Tct p.P295S ABHD12_uc002wus.2_Missense_Mutation_p.P295S NM_015600 NP_056415 Q8N2K0 ABD12_HUMAN Homo sapiens abhydrolase domain containing 12 (ABHD12), transcript variant 2, mRNA. 295 integral to membrane acylglycerol lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 12 TCAAACCCAGGGAAGTATCGA 0.388000 54 5 0 0 1 0 0 KBTBD12 166348 broad.mit.edu 37 3 127682071 127682071 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:127682071G>A uc010hsr.3 + 3 1535 c.1532G>A c.(1531-1533)cGa>cAa p.R511Q KBTBD12_uc003ejy.4_Missense_Mutation_p.R118Q|KBTBD12_uc010hsq.3_Non-coding_Transcript|KBTBD12_uc003eka.4_Missense_Mutation_p.R86Q|5S_rRNA_uc021xdi.1_5'Flank NM_207335 NP_997218 Q3ZCT8 KBTBC_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA. 511 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 GGCCAGGTTCGAAAATGCCTT 0.527000 22 5 0 0 1 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42280266 42280266 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:42280266C>T uc021sjp.1 - 15 1812 c.1812G>A c.(1810-1812)agG>agA p.R604R PLA2G4E_uc010udc.2_Silent_p.R47R|PLA2G4E_uc001zov.2_Silent_p.R228R NM_001206670 NP_001193599 Q3MJ16 PA24E_HUMAN Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA. 592 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) GCACTTTCTCCCTTGTCCACC 0.622000 25 6 0 0 1 0 0 SLC47A1 55244 broad.mit.edu 37 17 19480770 19480770 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:19480770G>A uc002gvx.3 + 16 1703 c.1617G>A c.(1615-1617)agG>agA p.R539R SLC47A1_uc002gvy.1_Silent_p.R539R|SLC47A1_uc010vyz.1_3'UTR|SLC47A1_uc010cqp.1_Silent_p.R237R|SLC47A1_uc010cqq.1_Silent_p.R285R|SLC47A1_uc010vza.1_Silent_p.R251R|SLC47A1_uc010vzb.1_Silent_p.R214R|SLC47A1_uc010vzc.1_Silent_p.R211R NM_018242 NP_060712 Q96FL8 S47A1_HUMAN Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA. 539 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) AATTGTCCAGGAAACAGCTGG 0.527000 182 11 0 0 1 0 0 SLC9A9 285195 broad.mit.edu 37 3 143567110 143567110 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:143567110G>A uc003evn.3 - 0 264 c.55C>T c.(55-57)Cag>Tag p.Q19* SLC9A9_uc011bnk.2_5'UTR NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA. 19 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 ACCGCTCCCTGATGTTGAAAC 0.408000 68 6 0 0 1 0 0 UFD1L 7353 broad.mit.edu 37 22 19459311 19459311 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:19459311G>A uc002zpm.2 - 3 320 c.190C>T c.(190-192)Ccc>Tcc p.P64S UFD1L_uc002zpo.2_Missense_Mutation_p.P64S|UFD1L_uc011agy.1_Missense_Mutation_p.P64S|UFD1L_uc002zpp.2_Missense_Mutation_p.P17S|UFD1L_uc010grq.2_Missense_Mutation_p.P17S NM_005659 NP_005650 Q92890 UFD1_HUMAN Homo sapiens ubiquitin fusion degradation 1 like (yeast) (UFD1L), transcript variant 1, mRNA. 64 skeletal system development|ubiquitin-dependent protein catabolic process cytosol|nucleus protein binding|ubiquitin-specific protease activity large_intestine(3)|upper_aerodigestive_tract(1) 4 Colorectal(54;0.0993) AACAGCATGGGATAGGTAATG 0.517000 93 8 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673423 141673423 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141673423C>T uc003vwx.1 - 0 151 c.67G>A c.(67-69)Gtc>Atc p.V23I NM_176817 NP_789787 P59533 T2R38_HUMAN Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA. 23 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) AACTCCAGGACTGAAATGAAC 0.443000 109 8 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174567 51174567 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:51174567C>T uc021tif.1 - 1 1597 c.1275G>A c.(1273-1275)acG>acA p.T425T SALL1_uc021tid.1_Silent_p.T425T|SALL1_uc021tie.1_Silent_p.T522T|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 522 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGCCAGTACTCGTGGGGATAT 0.517000 141 16 0 0 1 0 0 C14orf39 317761 broad.mit.edu 37 14 60903661 60903661 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:60903661G>A uc001xez.4 - 17 1776 c.1666C>T c.(1666-1668)Cca>Tca p.P556S C14orf39_uc010apo.3_Missense_Mutation_p.P267S NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA. 556 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) AATGAAAATGGAAAACTAAAA 0.338000 145 17 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803390 185803390 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:185803390C>T uc002uph.3 + 3 3861 c.3267C>T c.(3265-3267)tcC>tcT p.S1089S NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 1089 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TGCAGCAGTCCTTATGTTCTA 0.542000 93 9 0 0 1 0 0 NCCRP1 342897 broad.mit.edu 37 19 39691306 39691306 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:39691306C>T uc002okq.1 + 5 757 c.738C>T c.(736-738)ttC>ttT p.F246F NM_001001414 NP_001001414 Q6ZVX7 NCRP1_HUMAN Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA. 246 FBA. protein catabolic process kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 10 TTATCCACTTCCTGCACAAGG 0.627000 393 42 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196746662 196746662 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:196746662G>A uc002utj.4 - 35 5919 c.5818C>T c.(5818-5820)Cct>Tct p.P1940S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1940 AAA 3 (By similarity). P -> L (in dbSNP:rs2375544). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ACATCTTTAGGAATTGGAGGA 0.338000 69 10 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128478688 128478688 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:128478688C>T uc003vnz.4 + 7 1451 c.1242C>T c.(1240-1242)atC>atT p.I414I FLNC_uc003voa.4_Silent_p.I414I NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 414 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CTGTGGTGATCGTGGACCCAC 0.657000 230 17 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161302643 161302643 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:161302643G>A uc010jiw.3 + 6 1022 c.554G>A c.(553-555)gGa>gAa p.G185E GABRA1_uc010jix.3_Missense_Mutation_p.G185E|GABRA1_uc010jiy.3_Missense_Mutation_p.G185E|GABRA1_uc003lyx.4_Missense_Mutation_p.G185E|GABRA1_uc010jiz.3_Missense_Mutation_p.G185E|GABRA1_uc010jja.3_Missense_Mutation_p.G185E|GABRA1_uc010jjb.3_Missense_Mutation_p.G185E NM_000806 NP_001121120 P14867 GBRA1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA. 185 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CTAAAATTTGGAAGTTGTGAG 0.393000 63 7 0 0 1 0 0 RPP40 10799 broad.mit.edu 37 6 4996509 4996509 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:4996509G>A uc003mwl.3 - 5 740 c.705C>T c.(703-705)tgC>tgT p.C235C RPP40_uc003mwm.3_Silent_p.C212C NM_006638 NP_006629 O75818 RPP40_HUMAN Homo sapiens ribonuclease P/MRP 40kDa subunit (RPP40), mRNA. 235 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 14 Ovarian(93;0.11) all_hematologic(90;0.0895) CCAGAGCCCGGCAGGACACCT 0.597000 63 12 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19490830 19490830 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:19490830C>T uc002dgc.4 + 13 2996 c.2247C>T c.(2245-2247)ttC>ttT p.F749F TMC5_uc010vaq.2_Silent_p.F697F|TMC5_uc002dgb.4_Silent_p.F749F|TMC5_uc010var.2_Silent_p.F749F|TMC5_uc002dgd.1_Silent_p.F503F|TMC5_uc002dge.4_Silent_p.F503F|TMC5_uc002dgf.4_Silent_p.F432F|TMC5_uc002dgg.4_Silent_p.F390F NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 749 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TCAATTCCTTCCTGGGGGAGT 0.468000 133 14 0 0 1 0 0 C17orf77 146723 broad.mit.edu 37 17 72588716 72588716 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:72588716G>A uc002jla.1 + 2 893 c.531G>A c.(529-531)aaG>aaA p.K177K CD300LD_uc002jkz.2_5'Flank|C17orf77_uc021ucq.1_Silent_p.K177K NM_152460 NP_689673 Q96MU5 CQ077_HUMAN Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA. 177 extracellular region breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 GGACGGACAAGGCCAGCCATG 0.617000 23 4 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142655418 142655418 + Silent SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142655418A>T uc003wcb.3 - 4 708 c.498T>A c.(496-498)acT>acA p.T166T NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 166 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) TGAGGGGACCAGTCCCTGCAG 0.483000 94 23 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10081680 10081680 + Missense_Mutation SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:10081680T>G uc002mmq.1 - 52 3939 c.3853A>C c.(3853-3855)Aag>Cag p.K1285Q NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 1285 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GGGTCTCCCTTCTCCCCTGGG 0.597000 129 10 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062722 76062722 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:76062722G>A uc001oxh.1 - 4 1472 c.1472C>T c.(1471-1473)tCt>tTt p.S491F PRKRIR_uc021qnn.1_Missense_Mutation_p.S316F|PRKRIR_uc010rrz.1_Missense_Mutation_p.S316F NM_004705 NP_004696 O43422 P52K_HUMAN Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA. 491 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 TCTTGTAAAAGATAGGACATT 0.423000 45 5 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94120311 94120311 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:94120311C>T uc001ybv.1 + 35 5957 c.5874C>T c.(5872-5874)gcC>gcT p.A1958A UNC79_uc001ybs.1_Silent_p.A1936A NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 2113 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GGACCTTAGCCTCGTCTCTGA 0.507000 193 12 0 0 1 0 0 ZNF716 441234 broad.mit.edu 37 7 57529220 57529220 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:57529220C>T uc011kdi.1 + 3 1165 c.1053C>T c.(1051-1053)ctC>ctT p.L351L NM_001159279 NP_001152751 Homo sapiens zinc finger protein 716 (ZNF716), mRNA. breast(1)|kidney(1)|lung(20)|ovary(2) 24 GGGAGAAACTCTACACATGTG 0.398000 25 3 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2820859 2820859 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:2820859G>A uc022aqr.1 - 59 9729 c.9339C>T c.(9337-9339)ttC>ttT p.F3113F CSMD1_uc011kwj.2_Silent_p.F2443F|CSMD1_uc010lrg.3_Silent_p.F1005F NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3114 Sushi 25. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGCCCCAGCGGAAATCACTTC 0.562000 180 18 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141052595 141052595 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:141052595G>A uc003llm.3 - 6 1156 c.1078C>T c.(1078-1080)Cgc>Tgc p.R360C ARAP3_uc011dbe.2_Missense_Mutation_p.R22C|ARAP3_uc003lln.3_Missense_Mutation_p.R282C|ARAP3_uc003llo.1_Missense_Mutation_p.R360C NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA. 360 PH 1. cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CTCTCTGTGCGGAACACGAAC 0.602000 83 9 0 0 1 0 0 TCP11L2 255394 broad.mit.edu 37 12 106704926 106704926 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:106704926G>A uc001tln.3 + 1 247 c.73G>A c.(73-75)Gaa>Aaa p.E25K TCP11L2_uc001tll.3_Missense_Mutation_p.E25K|TCP11L2_uc001tlm.3_Missense_Mutation_p.E25K|TCP11L2_uc001tlo.1_Non-coding_Transcript NM_152772 NP_689985 Q8N4U5 T11L2_HUMAN Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA. 25 Ser-rich. endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 CCGGTTTTCCGAAAGCATGGC 0.522000 91 8 0 0 1 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58021521 58021521 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:58021521C>T uc001spg.1 - 9 1696 c.1264G>A c.(1264-1266)Gag>Aag p.E422K B4GALNT1_uc010sru.2_Missense_Mutation_p.E367K NM_001478 NP_001469 Q00973 B4GN1_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA. 422 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) CCGACGAGCTCGTGGTGGAAG 0.677000 13 3 0 0 1 0 0 CYP7B1 9420 broad.mit.edu 37 8 65527679 65527679 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:65527679C>T uc003xvj.2 - 3 1165 c.961G>A c.(961-963)Gaa>Aaa p.E321K NM_004820 NP_004811 O75881 CP7B1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA. 321 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity p.D320D(2)|p.E321G(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) CGGTCAATTTCGTCACGCACT 0.488000 55 6 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61833267 61833267 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:61833267C>T uc001jky.3 - 36 7710 c.7372G>A c.(7372-7374)Ggg>Agg p.G2458R ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 2458 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TAAGACTCCCCTCTTAGTTCT 0.413000 62 8 0 0 1 0 0 ZNF324B 388569 broad.mit.edu 37 19 58967013 58967013 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:58967013C>T uc002qsv.1 + 3 809 c.702C>T c.(700-702)ctC>ctT p.L234L ZNF324B_uc002qsu.1_Silent_p.L224L|ZNF324B_uc010euq.1_Silent_p.L234L NM_207395 NP_997278 Q6AW86 Z324B_HUMAN Homo sapiens zinc finger protein 324B (ZNF324B), mRNA. 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CTCATAGACTCCTCGGTGGCC 0.642000 14 3 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57768888 57768889 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:57768888_57768889CC>TT uc002yan.3 + 0 2814_2815 c.2814_2815CC>TT c.(2812-2817)tccccc>tcTTcc p.P939S NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 939 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) ATGCCTTTTCCCCCAAGTACCT 0.634000 161 10 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57176372 57176372 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:57176372C>T uc010ygn.2 - 1 422 c.195G>A c.(193-195)tcG>tcA p.S65S NM_001005850 NP_001005850 Homo sapiens zinc finger protein 835 (ZNF835), mRNA. endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 CAGCAGGGCTCGATATGGTTC 0.637000 47 4 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38609985 38609985 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:38609985C>T uc002ohk.3 + 8 2840 c.2331C>T c.(2329-2331)ggC>ggT p.G777G NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 777 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.G777A(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CTCCTTTCGGCCCCCCCATCC 0.537000 152 7 0 0 1 0 0 ACOXL 55289 broad.mit.edu 37 2 111789230 111789230 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:111789230C>T uc010yxk.1 + 14 1532 c.1308C>T c.(1306-1308)ttC>ttT p.F436F ACOXL_uc021vmm.1_Silent_p.F289F|ACOXL_uc021vmn.1_Silent_p.F259F NM_001142807 NP_001136279 Q9NUZ1 ACOXL_HUMAN Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA. 466 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 AGGATTTTTTCCATGCCTGGA 0.458000 83 5 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55905102 55905102 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:55905102G>A uc010riz.2 - 0 93 c.93C>T c.(91-93)ttC>ttT p.F31F NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA. 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) AGAGCACTAGGAAGACCAGGA 0.502000 129 14 0 0 1 0 0 C6orf195 154386 broad.mit.edu 37 6 2623787 2623787 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:2623787G>A uc003mtw.2 - 2 1255 c.270C>T c.(268-270)ttC>ttT p.F90F C6orf195_uc021ykp.1_Silent_p.F90F NM_152554 NP_689767 Q96MT4 CF195_HUMAN Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA. 90 cervix(1)|endometrium(1)|lung(2)|skin(1) 5 Ovarian(93;0.0412) all_hematologic(90;0.0895) CCGTGAAAGTGAAGGAGGAAA 0.597000 74 6 0 0 1 0 0 KCNK13 56659 broad.mit.edu 37 14 90650488 90650488 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:90650488G>A uc001xye.1 + 1 810 c.368G>A c.(367-369)gGa>gAa p.G123E NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA. 123 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) ACAGTAGGAGGAAAAATCTTT 0.483000 124 6 0 0 1 0 0 ZNF578 147660 broad.mit.edu 37 19 53014061 53014061 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:53014061G>A uc002pzp.4 + 5 671 c.427G>A c.(427-429)Gat>Aat p.D143N NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN Homo sapiens zinc finger protein 578 (ZNF578), mRNA. 53 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) AGACCGACATGATCAAAGGCA 0.393000 218 10 0 0 1 0 0 FZD8 8325 broad.mit.edu 37 10 35929515 35929515 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:35929515G>A uc001iyz.1 - 0 848 c.843C>T c.(841-843)atC>atT p.I281I NM_031866 NP_114072 Q9H461 FZD8_HUMAN Homo sapiens frizzled family receptor 8 (FZD8), mRNA. 281 T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development Golgi apparatus|cell projection|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.W280C(1) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 ACCACAGGCCGATCCAGAAGA 0.602000 60 8 0 0 1 0 0 FARP2 9855 broad.mit.edu 37 2 242312590 242312590 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:242312590C>T uc002wbi.2 + 1 232 c.68C>T c.(67-69)cCt>cTt p.P23L FARP2_uc010zoq.2_Missense_Mutation_p.P23L|FARP2_uc010zor.2_Missense_Mutation_p.P23L NM_014808 NP_055623 O94887 FARP2_HUMAN Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA. 23 Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) GCCCAGACCCCTGTGGGAGTT 0.522000 63 8 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238285582 238285582 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:238285582A>G uc002vwl.2 - 6 3188 c.2903T>C c.(2902-2904)gTt>gCt p.V968A COL6A3_uc002vwo.2_Missense_Mutation_p.V762A|COL6A3_uc010znj.1_Missense_Mutation_p.V361A|COL6A3_uc002vwq.3_Missense_Mutation_p.V762A|COL6A3_uc002vwr.3_Missense_Mutation_p.V561A|COL6A3_uc010znk.1_Missense_Mutation_p.V768A NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 968 Nonhelical region.|VWFA 5. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GAAAGGCACAACCCCACTCTG 0.562000 158 8 0 0 1 0 0 SPIRE1 56907 broad.mit.edu 37 18 12546886 12546886 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:12546886T>C uc002kre.3 - 2 437 c.390A>G c.(388-390)ggA>ggG p.G130G SPIRE1_uc002krc.3_Non-coding_Transcript|SPIRE1_uc010wzw.2_Silent_p.G10G|SPIRE1_uc010wzx.2_Intron|SPIRE1_uc010wzy.2_Silent_p.G130G NM_001128626 NP_001122098 Q08AE8 SPIR1_HUMAN Homo sapiens spire homolog 1 (Drosophila) (SPIRE1), transcript variant 1, mRNA. 130 KIND. cytoskeleton|perinuclear region of cytoplasm actin binding p.K129K(1) breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1) 28 AAATAATAATTCCCAAAGATT 0.383000 14 2 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807590 143807590 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:143807590G>A uc011ktz.2 + 0 915 c.915G>A c.(913-915)caG>caA p.Q305Q NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA. 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) GAGCACTCCAGAGGAAGAGGT 0.443000 98 7 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100686587 100686587 + Missense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:100686587C>A uc003uxp.1 + 2 11943 c.11890C>A c.(11890-11892)Cct>Act p.P3964T MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3964 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TGTATCTACCCCTGTGATAAC 0.448000 142 5 0.307466 0.3077 1 1 0 HHIPL2 79802 broad.mit.edu 37 1 222717004 222717004 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:222717004G>A uc001hnh.1 - 1 907 c.849C>T c.(847-849)ttC>ttT p.F283F NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN Homo sapiens HHIP-like 2 (HHIPL2), mRNA. 283 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GATTGTGGCGGAATTTGGGGT 0.488000 138 15 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768044 77768044 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:77768044G>A uc003yau.2 + 9 9274 c.8887G>A c.(8887-8889)Ggg>Agg p.G2963R ZFHX4_uc003yaw.1_Missense_Mutation_p.G2918R NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2918 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGAAATGTTAGGGAATGAGAT 0.423000 HNSCC(33;0.089) 32 6 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140807694 140807694 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:140807694G>A uc004cog.3 + 3 738 c.593G>A c.(592-594)aGg>aAg p.R198K CACNA1B_uc022bqn.1_Missense_Mutation_p.R198K NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 198 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CGTGTGCTGAGGCCCCTGAAG 0.567000 51 9 0 0 1 0 0 ZNF683 257101 broad.mit.edu 37 1 26691383 26691383 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:26691383G>A uc001bmg.1 - 3 772 c.654C>T c.(652-654)caC>caT p.H218H ZNF683_uc001bmh.1_Silent_p.H218H|ZNF683_uc009vsj.1_Silent_p.H218H NM_173574 NP_775845 Q8IZ20 ZN683_HUMAN Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA. 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GCATGAGGAGGTGGGGACATT 0.607000 68 12 0 0 1 0 0 GCET2 257144 broad.mit.edu 37 3 111851963 111851963 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:111851963C>T uc021xcl.1 - 0 190 c.5G>A c.(4-6)gGa>gAa p.G2E GCET2_uc003dys.2_Missense_Mutation_p.G2E|GCET2_uc021xcm.1_Missense_Mutation_p.G2E NM_001190259 NP_001177188 Q8N6F7 GCET2_HUMAN Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA. 2 mitochondrion endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 8 CAGAGAATTTCCCATCCTCTC 0.502000 131 12 0 0 1 0 0 TSGA13 114960 broad.mit.edu 37 7 130368455 130368455 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:130368455C>T uc003vqi.3 - 2 536 c.79G>A c.(79-81)Gga>Aga p.G27R TSGA13_uc003vqj.3_Missense_Mutation_p.G27R NM_052933 NP_443165 Q96PP4 TSG13_HUMAN Homo sapiens testis specific, 13 (TSGA13), mRNA. 27 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(18;0.0435) ACAACCATTCCTTTCTCACGT 0.388000 77 7 0 0 1 0 0 SMPDL3B 27293 broad.mit.edu 37 1 28282350 28282350 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:28282350C>T uc001bpg.3 + 5 1037 c.846C>T c.(844-846)agC>agT p.S282S SMPDL3B_uc001bpf.3_Silent_p.S282S|SMPDL3B_uc010ofq.2_Silent_p.S76S|SMPDL3B_uc010ofr.2_Silent_p.S234S NM_014474 NP_055289 Q92485 ASM3B_HUMAN Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA. 282 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 16 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055) ACACCGACAGCTTTCGGATGC 0.567000 88 8 0 0 1 0 0 FBXO39 162517 broad.mit.edu 37 17 6683756 6683756 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:6683756G>A uc010vtg.2 + 1 689 c.569G>A c.(568-570)aGg>aAg p.R190K NM_153230 NP_694962 Q8N4B4 FBX39_HUMAN Homo sapiens F-box protein 39 (FBXO39), mRNA. 190 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 AGCTACATGAGGAATGAGAAT 0.488000 55 5 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9048086 9048086 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9048086G>A uc002mkp.3 - 4 33749 c.33545C>T c.(33544-33546)tCa>tTa p.S11182L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11184 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTGACCAATGAAGTTGTGGT 0.458000 24 3 0 0 1 0 0 RASA2 5922 broad.mit.edu 37 3 141290290 141290290 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:141290290C>T uc010huq.1 + 10 1063 c.1063C>T c.(1063-1065)Cga>Tga p.R355* RASA2_uc003etz.1_Nonsense_Mutation_p.R355*|RASA2_uc003eua.1_Nonsense_Mutation_p.R355*|RASA2_uc011bnc.1_5'UTR NM_006506 NP_006497 Q15283 RASA2_HUMAN Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA. 355 intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm Ras GTPase activator activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 TGAAATATGTCGAGATAAAAA 0.398000 216 22 0 0 1 0 0 OR5T1 390155 broad.mit.edu 37 11 56043848 56043848 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:56043848G>A uc001nio.1 + 0 734 c.734G>A c.(733-735)gGg>gAg p.G245E NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA. 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) TCTGCTGAAGGGAGGAGAAAA 0.433000 124 8 0 0 1 0 0 OSBPL9 114883 broad.mit.edu 37 1 52226376 52226376 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:52226376C>T uc001cst.3 + 9 834 c.651C>T c.(649-651)ccC>ccT p.P217P OSBPL9_uc001css.3_Silent_p.P204P|OSBPL9_uc009vza.3_Silent_p.P182P|OSBPL9_uc001csu.3_Silent_p.P209P|OSBPL9_uc001csv.3_Silent_p.P34P|OSBPL9_uc001csw.3_Silent_p.P186P|OSBPL9_uc001csy.3_Silent_p.P21P|OSBPL9_uc001csz.3_Silent_p.P21P|OSBPL9_uc001cta.3_Silent_p.P89P|OSBPL9_uc001ctb.3_5'UTR NM_024586 NP_078862 Q96SU4 OSBL9_HUMAN Homo sapiens oxysterol binding protein-like 9 (OSBPL9), transcript variant 6, mRNA. 199 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 CTATTAATCCCGTAGATGCAA 0.368000 82 8 0 0 1 0 0 MMS22L 253714 broad.mit.edu 37 6 97702545 97702545 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:97702545C>T uc003ppb.3 - 9 1273 c.1007G>A c.(1006-1008)aGa>aAa p.R336K MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Missense_Mutation_p.R336K|MMS22L_uc010kcn.1_Missense_Mutation_p.R110K|MMS22L_uc003ppc.3_Missense_Mutation_p.R336K NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA. 336 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 CATAGAGGATCTTCTTCGGTC 0.358000 61 5 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126128661 126128661 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:126128661G>A uc001uhe.1 + 5 1470 c.1462G>A c.(1462-1464)Gaa>Aaa p.E488K TMEM132B_uc001uhf.1_5'UTR NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 488 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GAATGGGAAGGAAATGAAGAG 0.483000 85 7 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54955730 54955730 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:54955730G>A uc004dtq.3 + 11 2680 c.2573G>A c.(2572-2574)gGc>gAc p.G858D TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.G389D|TRO_uc004dtw.3_Missense_Mutation_p.G461D|TRO_uc004dtx.3_Missense_Mutation_p.G241D NM_001039705 NP_001034794 Q12816 TROP_HUMAN Homo sapiens trophinin (TRO), transcript variant 6, mRNA. 858 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 ACCACGGCTGGCTTTAGTGGT 0.572000 20 4 0 0 1 0 0 SFTPD 6441 broad.mit.edu 37 10 81702255 81702255 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:81702255G>A uc001kbh.3 - 3 365 c.322C>T c.(322-324)Cca>Tca p.P108S NM_003019 NP_003010 P35247 SFTPD_HUMAN Homo sapiens surfactant protein D (SFTPD), mRNA. 108 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) GGAGGTCCTGGAGGTCCTGAG 0.572000 55 6 0 0 1 0 0 STC1 6781 broad.mit.edu 37 8 23702327 23702327 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:23702327C>T uc003xdw.1 - 3 984 c.700G>A c.(700-702)Gac>Aac p.D234N NM_003155 NP_003146 P52823 STC1_HUMAN Homo sapiens stanniocalcin 1 (STC1), mRNA. 234 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GAGGGAGAGTCCTCCTCACCT 0.527000 43 4 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89259262 89259262 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:89259262C>T uc003dqy.3 + 2 631 c.406C>T c.(406-408)Cga>Tga p.R136* EPHA3_uc003dqx.1_Nonsense_Mutation_p.R136*|EPHA3_uc021xbf.1_Nonsense_Mutation_p.R136* NM_005233 NP_005224 P29320 EPHA3_HUMAN Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA. 136 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GGTGAAATTTCGAGAGCATCA 0.418000 TSP Lung(6;0.00050) 186 18 0 0 1 0 0 IARS2 55699 broad.mit.edu 37 1 220315268 220315268 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:220315268C>T uc001hmc.3 + 19 2642 c.2538C>T c.(2536-2538)ttC>ttT p.F846F NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA. 846 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) AAGAGGTGTTCCAGCACATAC 0.388000 97 4 0 0 1 0 0 CCDC125 202243 broad.mit.edu 37 5 68616180 68616181 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:68616180_68616181GG>AA uc003jvv.1 - 0 227_228 c.187_188CC>TT c.(187-189)ccg>TTg p.P63L CCDC125_uc003jvx.1_Missense_Mutation_p.P63L|CCDC125_uc003jvy.1_Intron|CCDC125_uc003jvw.2_Intron|CCDC125_uc003jvz.1_Missense_Mutation_p.P63L NM_176816 NP_789786 Q86Z20 CC125_HUMAN Homo sapiens coiled-coil domain containing 125 (CCDC125), mRNA. 63 cytoplasm breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1) 19 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) TCCCTTTCTCGGAAATGGAGGA 0.406000 95 10 0 0 1 0 0 HS3ST2 9956 broad.mit.edu 37 16 22926712 22926712 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:22926712C>T uc002dli.3 + 1 1005 c.933C>T c.(931-933)ttC>ttT p.F311F NM_006043 NP_006034 Q9Y278 HS3S2_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA. 311 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) CCAAAGGATTCCCTTGCTTGA 0.493000 198 25 0 0 1 0 0 BV13S6J2.1 0 broad.mit.edu 37 7 142180907 142180907 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142180907C>T uc011krz.2 - 0 93 c.44G>A c.(43-45)tGg>tAg p.W15* TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|BV13S6J2.1_uc022anl.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; CCCACCTGCCCACAGGAGAGA 0.582000 65 4 0 0 1 0 0 CHRM1 1128 broad.mit.edu 37 11 62677831 62677831 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:62677831C>T uc021qko.1 - 0 742 c.742G>A c.(742-744)Gct>Act p.A248T CHRM1_uc001nwi.3_Missense_Mutation_p.A248T NM_000738 NP_000729 P11229 ACM1_HUMAN Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA. 248 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding large_intestine(5)|lung(3)|stomach(1) 9 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209) GAGCCCTCAGCCCCTGGCTGA 0.667000 30 6 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39009955 39009955 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:39009955T>C uc002oit.3 + 66 10250 c.10120T>C c.(10120-10122)Tcc>Ccc p.S3374P RYR1_uc002oiu.3_Missense_Mutation_p.S3374P|RYR1_uc002oiv.1_Missense_Mutation_p.S294P|RYR1_uc010xuf.1_Missense_Mutation_p.S294P NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 3374 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GAAGGTGGTGTCCGAGGAGGA 0.677000 27 4 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52883755 52883755 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:52883755C>T uc001sam.3 - 5 1384 c.1175G>A c.(1174-1176)aGa>aAa p.R392K NM_005554 NP_005545 P02538 K2C6A_HUMAN Homo sapiens keratin 6A (KRT6A), mRNA. 392 Coil 2.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton p.L391L(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) GATCTCAGATCTCAGCCTCTG 0.532000 51 7 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43433763 43433763 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:43433763C>T uc002ovl.4 - 3 639 c.537G>A c.(535-537)tgG>tgA p.W179* PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Nonsense_Mutation_p.W58* NM_002783 NP_002774 Q13046 PSG7_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA. 180 Ig-like C2-type 1. female pregnancy extracellular region Prostate(69;0.00682) CATTCATCCACCACAGGTAGC 0.517000 285 44 0 0 1 0 0 WDR91 29062 broad.mit.edu 37 7 134878080 134878080 + Missense_Mutation SNP G A A rs139844816 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:134878080G>A uc003vsp.2 - 10 1624 c.1562C>T c.(1561-1563)tCc>tTc p.S521F WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Missense_Mutation_p.S110F NM_014149 NP_054868 A4D1P6 WDR91_HUMAN Homo sapiens WD repeat domain 91 (WDR91), mRNA. 521 p.S521F(2) breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 GTCCACCTGGGAAGTGAGGCT 0.597000 87 8 0 0 1 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158014138 158014139 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:158014138_158014139CC>TT uc003qqt.3 + 2 1022_1023 c.525_526CC>TT c.(523-528)ccccct>ccTTct p.P176S ZDHHC14_uc003qqs.3_Missense_Mutation_p.P176S|ZDHHC14_uc010kjm.1_Missense_Mutation_p.P71S NM_024630 NP_078906 Q8IZN3 ZDH14_HUMAN Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA. 176 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) TTTTCCGGCCCCCTCGCGCCTC 0.599000 71 9 0 0 1 0 0 OR56A1 120796 broad.mit.edu 37 11 6048686 6048686 + Silent SNP G A A rs147711206 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:6048686G>A uc010qzw.2 - 0 286 c.249C>T c.(247-249)acC>acT p.T83T NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA. 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGGATGACGGTGAGGCAGA 0.577000 41 6 0 0 1 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835800 12835800 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:12835800G>A uc001aui.3 + 1 429 c.402G>A c.(400-402)ggG>ggA p.G134G NM_001080830 NP_001074299 O95522 PRA12_HUMAN Homo sapiens PRAME family member 12 (PRAMEF12), mRNA. 134 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAACAGCAGGGAACTGTCCAA 0.537000 107 19 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125424883 125424883 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:125424883A>G uc022bmz.1 + 0 889 c.889A>G c.(889-891)Aag>Gag p.K297E NM_001005236 NP_001005236 Q8NH94 OR1L1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA. 347 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 CAAAGACATGAAGCAGGGTTT 0.393000 82 8 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34401380 34401380 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:34401380G>A uc001bxm.1 - 3 870 c.693C>T c.(691-693)ttC>ttT p.F231F CSMD2_uc001bxn.1_Silent_p.F191F NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 191 CUB 2. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AAGGCAGGGGGAAGTCCCACG 0.627000 52 5 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44168907 44168907 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:44168907C>T uc003bdy.2 - 3 530 c.216G>A c.(214-216)ggG>ggA p.G72G EFCAB6_uc003bdz.2_Intron|EFCAB6_uc010gzi.2_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Silent_p.G69G|EFCAB6_uc003beb.4_Intron NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 72 EF-hand 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GCAACTCATCCCCTCTGTCGG 0.408000 117 4 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123963870 123963870 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:123963870T>C uc022bag.1 + 0 120 c.120T>C c.(118-120)ccT>ccC p.P40P ZHX2_uc003ypk.1_Silent_p.P40P NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA. 40 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CACCACAGCCTGACGTGGCCA 0.483000 38 4 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21330948 21330948 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:21330948G>A uc002kuq.3 + 4 837 c.751G>A c.(751-753)Gag>Aag p.E251K LAMA3_uc010dlv.2_Missense_Mutation_p.E251K|LAMA3_uc002kur.3_Missense_Mutation_p.E251K NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 251 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACCCTGAGGGAGTTTACCAA 0.458000 108 8 0 0 1 0 0 SCARF1 8578 broad.mit.edu 37 17 1538384 1538384 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:1538384C>T uc002fsz.1 - 10 2211 c.2161G>A c.(2161-2163)Gaa>Aaa p.E721K SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.E635K NM_003693 NP_003684 Q14162 SREC_HUMAN Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA. 721 Gly-rich. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity p.A720E(1) cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) ACCTTGGCTTCCGCCTGGCCT 0.632000 48 8 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47402423 47402423 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:47402423C>T uc001cqp.4 - 3 474 c.423G>A c.(421-423)caG>caA p.Q141Q CYP4A11_uc001cqq.2_Silent_p.Q141Q|CYP4A11_uc010omm.1_Non-coding_Transcript NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 141 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TCCGTCGATGCTGGAACCATG 0.537000 62 15 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156381695 156381695 + Missense_Mutation SNP G A A rs115724540 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:156381695G>A uc003lwh.2 - 1 188 c.131C>T c.(130-132)tCc>tTc p.S44F TIMD4_uc010jii.2_Missense_Mutation_p.S44F NM_138379 NP_612388 Q96H15 TIMD4_HUMAN Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA. 44 Ig-like V-type. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGAGACCAGGATGAGTACAG 0.542000 60 5 0 0 1 0 0 RAET1K 646024 broad.mit.edu 37 6 150322729 150322729 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:150322729C>T uc003qnq.3 - 1 c.148G>A Homo sapiens retinoic acid early transcript 1K pseudogene (RAET1K), non-coding RNA. ATCCACCAGGCCTTGAACTTC 0.453000 89 13 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106763 55106764 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:55106763_55106764CC>TT uc002qgh.1 + 4 739_740 c.557_558CC>TT c.(556-558)ccc>cTT p.P186L LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.P186L NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 186 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TCTGTGGGCCCCGTGAGCCCGA 0.574000 175 14 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130219008 130219008 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:130219008G>A uc004evz.3 + 6 1270 c.925G>A c.(925-927)Gat>Aat p.D309N ARHGAP36_uc004ewa.3_Missense_Mutation_p.D297N|ARHGAP36_uc004ewb.3_Missense_Mutation_p.D278N|ARHGAP36_uc004ewc.3_Missense_Mutation_p.D173N NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA. 309 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GCTGCCAGATGATCTGTACAT 0.488000 64 17 0 0 1 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887927 9887927 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:9887927G>A uc002koi.4 + 1 1900 c.1451G>A c.(1450-1452)aGg>aAg p.R484K TXNDC2_uc002koh.4_Missense_Mutation_p.R417K|TXNDC2_uc021ugx.1_Missense_Mutation_p.R417K NM_001098529 NP_115619 Q86VQ3 TXND2_HUMAN Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA. 484 Thioredoxin. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GGGCCCTGCAGGACCATCAGA 0.582000 63 7 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141754683 141754683 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141754683C>T uc003vwy.3 + 26 3343 c.3289C>T c.(3289-3291)Cgc>Tgc p.R1097C NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1097 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.R1097C(2) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GATTGAAATTCGCCGGAAGAG 0.498000 64 7 0 0 1 0 0 C5orf38 153571 broad.mit.edu 37 5 2753450 2753450 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:2753450C>T uc003jdc.3 + 2 502 c.385C>T c.(385-387)Cct>Tct p.P129S C5orf38_uc011cmg.2_Missense_Mutation_p.P129S|C5orf38_uc011cmh.2_Non-coding_Transcript|C5orf38_uc011cmi.2_Non-coding_Transcript|C5orf38_uc011cmj.2_Intron NM_178569 NP_848664 Q86SI9 CEI_HUMAN Homo sapiens chromosome 5 open reading frame 38 (C5orf38), mRNA. 129 extracellular region endometrium(2)|large_intestine(1)|lung(1) 4 GBM - Glioblastoma multiforme(108;0.205) GATGGCTCCTCCTGAGCCGGC 0.647000 145 12 0 0 1 0 0 RC3H2 54542 broad.mit.edu 37 9 125617604 125617604 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:125617604G>A uc010mwc.1 - 14 2915 c.2674C>T c.(2674-2676)Cca>Tca p.P892S RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.P892S|RC3H2_uc004bne.4_Missense_Mutation_p.P892S NM_001100588 NP_001094058 Q9HBD1 RC3H2_HUMAN Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA. 892 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GGAATTATTGGATCTTCTTCT 0.413000 72 11 0 0 1 0 0 ALDH1A1 216 broad.mit.edu 37 9 75531841 75531841 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:75531841G>A uc004ajd.3 - 8 1347 c.1030C>T c.(1030-1032)Cct>Tct p.P344S ALDH1A1_uc011lsh.2_Missense_Mutation_p.P265S|ALDH1A1_uc011lsg.2_Missense_Mutation_p.P170S NM_000689 NP_000680 P00352 AL1A1_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA. 344 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CTTACCTGAGGGCCTTGAGTG 0.398000 66 4 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113435491 113435491 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:113435491G>A uc001tuj.3 + 3 934 c.794G>A c.(793-795)tGg>tAg p.W265* OAS2_uc001tui.1_Nonsense_Mutation_p.W265* NM_016817 NP_058197 P29728 OAS2_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA. 265 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|RNA binding|nucleotidyltransferase activity NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 TGTATCTATTGGATGGTCAAC 0.502000 20 3 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57731226 57731226 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:57731226G>A uc010bfw.3 + 2 1222 c.1029G>A c.(1027-1029)cgG>cgA p.R343R CGNL1_uc002aeg.3_Silent_p.R343R NM_001252335 NP_001239264 Q0VF96 CGNL1_HUMAN Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA. 343 Head. myosin complex|tight junction motor activity p.R343W(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) GAACTGGACGGGATATTGATA 0.438000 56 9 0 0 1 0 0 CLCNKA 1187 broad.mit.edu 37 1 16374434 16374434 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:16374434G>A uc001axx.4 + 4 529 c.393G>A c.(391-393)gcG>gcA p.A131A CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_5'Flank|CLCNKA_uc001axy.4_5'Flank NM_000085 NP_000076 P51800 CLCKA_HUMAN Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA. 131 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.A131P(1) breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CCATGTTGGCGGGTGTGGTCT 0.582000 123 24 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156634325 156634325 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:156634325G>A uc003iov.3 + 7 1698 c.1162G>A c.(1162-1164)Gac>Aac p.D388N GUCY1A3_uc010iqc.2_Missense_Mutation_p.D388N|GUCY1A3_uc010iqd.3_Missense_Mutation_p.D387N|GUCY1A3_uc003iow.3_Missense_Mutation_p.D388N|GUCY1A3_uc003iox.3_Missense_Mutation_p.D388N|GUCY1A3_uc010iqe.3_Missense_Mutation_p.D153N|GUCY1A3_uc003ioy.3_Missense_Mutation_p.D388N|GUCY1A3_uc003ioz.3_Missense_Mutation_p.D153N|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.D388N NM_000856 NP_001124157 Q02108 GCYA3_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA. 388 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) ACCCTGTGTGGACAGATTAGA 0.453000 41 3 0 0 1 0 0 ACP6 51205 broad.mit.edu 37 1 147131150 147131150 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:147131150G>A uc001epr.2 - 3 948 c.484C>T c.(484-486)Cgt>Tgt p.R162C ACP6_uc009wjj.1_Missense_Mutation_p.R119C NM_016361 NP_057445 Q9NPH0 PPA6_HUMAN Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA. 162 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) TTAGTGGAACGAATACTGAAA 0.398000 77 8 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50716154 50716154 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:50716154A>G uc003bkv.4 - 32 5155 c.5062T>C c.(5062-5064)Ttc>Ctc p.F1688L PLXNB2_uc003bkt.1_Missense_Mutation_p.F480L|PLXNB2_uc003bku.1_Missense_Mutation_p.F673L NM_012401 NP_036533 O15031 PLXB2_HUMAN Homo sapiens plexin B2 (PLXNB2), mRNA. 1688 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TTCACCCAGAACCGGAGCGGT 0.637000 153 13 0 0 1 0 0 GLT8D2 83468 broad.mit.edu 37 12 104391300 104391300 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:104391300C>T uc001tkh.1 - 6 973 c.416G>A c.(415-417)cGa>cAa p.R139Q GLT8D2_uc001tki.1_Missense_Mutation_p.R139Q NM_031302 NP_112592 Q9H1C3 GL8D2_HUMAN Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA. 139 integral to membrane transferase activity, transferring glycosyl groups kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 GAGATAAAATCGAACAAAGTT 0.438000 91 5 0 0 1 0 0 AGMAT 79814 broad.mit.edu 37 1 15905399 15905399 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:15905399C>T uc001awv.2 - 3 818 c.675G>A c.(673-675)cgG>cgA p.R225R DNAJC16_uc001awu.3_Intron NM_024758 NP_079034 Q9BSE5 SPEB_HUMAN Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA. 225 putrescine biosynthetic process|spermidine biosynthetic process mitochondrion agmatinase activity|metal ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1) 12 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) TGGAAGAGCCCCGGATGCCAA 0.602000 89 7 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 119026233 119026233 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:119026233G>A uc003ibx.3 + 2 1445 c.1042G>A c.(1042-1044)Gga>Aga p.G348R NDST3_uc011cgf.1_Intron NM_004784 NP_004775 O95803 NDST3_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA. 348 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 ATTCAACCTGGGATTTTCAGG 0.338000 121 8 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186947657 186947657 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:186947657C>T uc003frh.2 - 10 1722 c.1332G>A c.(1330-1332)aaG>aaA p.K444K NM_001879 NP_001870 P48740 MASP1_HUMAN Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA. 444 complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity p.R443W(1) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TGGCCATCAGCTTCCGGGAGA 0.607000 69 4 0 0 1 0 0 DRGX 644168 broad.mit.edu 37 10 50594875 50594875 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:50594875C>T uc010qgq.2 - 3 279 c.279G>A c.(277-279)tgG>tgA p.W93* DRGX_uc021pqd.1_Nonsense_Mutation_p.W88* NM_001080520 NP_001073989 C9JW76 C9JW76_HUMAN Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA. 93 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 CTGTCTTCCTCCATTTGGCCC 0.557000 193 15 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27296617 27296617 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:27296617C>T uc003xfn.2 + 23 2521 c.1713C>T c.(1711-1713)tcC>tcT p.S571S PTK2B_uc022ate.1_Silent_p.S571S|PTK2B_uc003xfp.2_Silent_p.S571S|PTK2B_uc003xfq.2_Silent_p.S571S|PTK2B_uc003xfr.1_Silent_p.S317S NM_173174 NP_775268 Q14289 FAK2_HUMAN Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA. 571 Protein kinase. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) TTGGTCTTTCCCGGTACATTG 0.557000 99 13 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10260313 10260313 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:10260313T>C uc002mng.3 - 24 2534 c.2354A>G c.(2353-2355)gAc>gGc p.D785G DNMT1_uc010xlc.2_Missense_Mutation_p.D801G|DNMT1_uc002mnh.3_Missense_Mutation_p.D680G|DNMT1_uc010xld.2_Missense_Mutation_p.D785G NM_001379 NP_001370 P26358 DNMT1_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA. 785 BAH 1. chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GTTGCTGCTGTCCTCCCACAG 0.592000 194 22 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179587780 179587780 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:179587780G>A uc010pnp.2 + 4 1396 c.878G>A c.(877-879)gGa>gAa p.G293E TDRD5_uc021pfm.1_Missense_Mutation_p.G293E|TDRD5_uc001gnf.2_Missense_Mutation_p.G293E|TDRD5_uc021pfn.1_Missense_Mutation_p.G293E|TDRD5_uc001gnh.2_5'UTR NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 293 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 GGACCTGGAGGAACTATCAGT 0.313000 48 4 0 0 1 0 0 CCR2 729230 broad.mit.edu 37 3 46399709 46399709 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:46399709C>T uc003cpn.4 + 1 1176 c.691C>T c.(691-693)Cgg>Tgg p.R231W CCR2_uc003cpm.4_Missense_Mutation_p.R231W|CCR2_uc021wxa.1_Missense_Mutation_p.R231W NM_001123041 NP_001116513 P41597 CCR2_HUMAN Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA. 231 JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) AACCCTGCTTCGGTGTCGAAA 0.448000 220 29 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138449913 138449913 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:138449913C>T uc003ihe.4 - 1 2936 c.2549G>A c.(2548-2550)cGa>cAa p.R850Q PCDH18_uc003ihf.4_Missense_Mutation_p.R842Q|PCDH18_uc011cgz.2_Missense_Mutation_p.R61Q|PCDH18_uc003ihg.4_Missense_Mutation_p.R629Q|PCDH18_uc011cha.2_Missense_Mutation_p.R30Q NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 850 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TTTGTTTCCTCGAAAACTTGG 0.373000 95 5 0 0 1 0 0 FAM75C2 645961 broad.mit.edu 37 9 90746869 90746869 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:90746869G>A uc011lti.2 - 3 1112 c.1083C>T c.(1081-1083)ttC>ttT p.F361F NM_001166137 NP_001159609 B4DYI2 B4DYI2_HUMAN Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA. 361 ATAGGACTGGGAAAGAGGATT 0.527000 430 13 0 0 1 0 0 PRM2 5620 broad.mit.edu 37 16 11370014 11370014 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:11370014G>A uc002dau.1 - 0 324 c.214C>T c.(214-216)Cgc>Tgc p.R72C RMI2_uc002daq.1_Intron|PRM3_uc002dat.1_5'Flank NM_002762 NP_002753 P04554 PRM2_HUMAN Homo sapiens protamine 2 (PRM2), mRNA. 72 chromosome condensation|multicellular organismal development nucleoplasm|nucleosome DNA binding p.0?(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2) 7 CTGCAGGAGCGATGCTGCCGC 0.652000 72 9 0 0 1 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64084807 64084807 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:64084807G>A uc003dmf.3 - 7 3041 c.2455C>T c.(2455-2457)Ccc>Tcc p.P819S NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA. 819 cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) GAAGATTTGGGGAGGCCGTAG 0.502000 125 7 0 0 1 0 0 ESR1 2099 broad.mit.edu 37 6 152201885 152201885 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:152201885G>A uc010kio.3 + 3 963 c.745G>A c.(745-747)Gaa>Aaa p.E249K ESR1_uc003qom.4_Missense_Mutation_p.E247K|ESR1_uc010kin.3_Missense_Mutation_p.E247K|ESR1_uc010kip.3_Missense_Mutation_p.E247K|ESR1_uc003qon.4_Missense_Mutation_p.E247K|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Missense_Mutation_p.E247K|ESR1_uc010kiq.3_Missense_Mutation_p.R3Q|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Non-coding_Transcript|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Missense_Mutation_p.E74K|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Missense_Mutation_p.E28K NM_001122742 NP_001116214 P03372 ESR1_HUMAN Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA. 247 Mediates interaction with DNTTIP2. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding p.E247K(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) TAAATGCTACGAAGTGGGAAT 0.542000 40 5 0 0 1 0 0 FAM113B 91523 broad.mit.edu 37 12 47629015 47629015 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:47629015G>A uc001rpq.3 + 1 694 c.169G>A c.(169-171)Gaa>Aaa p.E57K FAM113B_uc001rpn.3_Missense_Mutation_p.E57K|FAM113B_uc021qxi.1_Missense_Mutation_p.E57K NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 57 hydrolase activity NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) GCTGAACTTCGAACAAGATGA 0.607000 46 6 0 0 1 0 0 OR9K2 441639 broad.mit.edu 37 12 55523969 55523969 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:55523969C>T uc010spe.2 + 0 417 c.417C>T c.(415-417)ctC>ctT p.L139L NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA. 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 AGGGATTTCTCCTGGCGGCCA 0.498000 60 4 0 0 1 0 0 KIAA1751 85452 broad.mit.edu 37 1 1887103 1887103 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:1887103C>T uc001aim.1 - 17 2359 c.2203G>A c.(2203-2205)Ggg>Agg p.G735R KIAA1751_uc009vkz.1_Intron NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN Homo sapiens KIAA1751 (KIAA1751), mRNA. 735 breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 32 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CCCGCCCACCCTGGCTTGGCC 0.652000 128 19 0 0 1 0 0 OR13G1 441933 broad.mit.edu 37 1 247835623 247835623 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:247835623G>A uc001idi.1 - 0 721 c.721C>T c.(721-723)Cat>Tat p.H241Y NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA. 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H241Y(2) endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.017) ACTGTGAGATGAGATGAGCAT 0.443000 49 6 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61582854 61582854 + Missense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:61582854C>A uc010xev.2 + 1 200 c.110C>A c.(109-111)aCt>aAt p.T37N SERPINB2_uc002ljp.1_Missense_Mutation_p.T178N|SERPINB2_uc002ljq.1_Missense_Mutation_p.T151N|SERPINB2_uc010xew.2_Missense_Mutation_p.T37N NM_005024 NP_005015 P05120 PAI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA. 37 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis Golgi apparatus|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) AGCATCTCAACTTCCTTGACC 0.448000 56 8 4.68919e-08 4.73368e-08 1 1 0 SELPLG 6404 broad.mit.edu 37 12 109017296 109017296 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:109017296G>A uc010sxe.2 - 1 1013 c.836C>T c.(835-837)tCc>tTc p.S279F SELPLG_uc001tni.3_Missense_Mutation_p.S263F|SELPLG_uc021rdm.1_Missense_Mutation_p.S253F|SELPLG_uc001tnh.3_Missense_Mutation_p.S253F NM_001206609 NP_001193538 Q14242 SELPL_HUMAN Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA. 263 blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 GGGTTCTGTGGACAGGGCCTC 0.572000 78 6 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76313941 76313941 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:76313941C>T uc001dhd.2 + 7 1325 c.1210C>T c.(1210-1212)Caa>Taa p.Q404* NM_002440 NP_002431 O15457 MSH4_HUMAN Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA. 404 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 TGTTTTAGTCCAAATTCCAAA 0.274000 Mismatch excision repair (MMR) 61 4 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25440337 25440337 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:25440337T>C uc001upr.3 + 29 4198 c.4157T>C c.(4156-4158)tTt>tCt p.F1386S RNF17_uc010tde.2_Missense_Mutation_p.F1382S|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.F1325S|RNF17_uc010aac.3_Missense_Mutation_p.F578S|RNF17_uc010aad.3_Missense_Mutation_p.F396S NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 1386 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GAAATAAGGTTTGAGGTAAGT 0.303000 138 5 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107618514 107618514 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:107618514G>A uc003vev.2 - 6 1211 c.1050C>T c.(1048-1050)ggC>ggT p.G350G LAMB1_uc003vew.2_Silent_p.G326G|LAMB1_uc003vex.3_Silent_p.G326G|LAMB1_uc010ljn.1_Silent_p.G412G NM_002291 NP_002282 P07942 LAMB1_HUMAN Homo sapiens laminin, beta 1 (LAMB1), mRNA. 326 Laminin EGF-like 2. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGCTGTTTCGGCCTTCAGCAG 0.438000 93 9 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70356760 70356760 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:70356760C>T uc004dyy.3 + 37 5631 c.5432C>T c.(5431-5433)cCt>cTt p.P1811L MED12_uc011mpq.1_Missense_Mutation_p.P1811L|MED12_uc004dyz.3_Missense_Mutation_p.P1811L|MED12_uc004dza.3_Missense_Mutation_p.P1658L|MED12_uc010nla.3_Missense_Mutation_p.P437L NM_005120 NP_005111 Q93074 MED12_HUMAN Homo sapiens mediator complex subunit 12 (MED12), mRNA. 1811 Interaction with CTNNB1 and GLI3. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CGGAGCGGCCCTTATGGTGTG 0.587000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 42 11 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75197555 75197555 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:75197555G>A uc003uds.2 - 8 796 c.751C>T c.(751-753)Cca>Tca p.P251S HIP1_uc011kfz.2_Missense_Mutation_p.P251S NM_005338 NP_005329 O00291 HIP1_HUMAN Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA. 251 KLHSCLP -> EFAAAST (in Ref. 6; CAA70574). activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton p.P251Q(1) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GTGTCAGCTGGGAGGCCTGGA 0.582000 T PDGFRB CMML 86 9 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126751236 126751236 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:126751236C>T uc003ejg.3 + 28 5238 c.5238C>T c.(5236-5238)ccC>ccT p.P1746P PLXNA1_uc003ejh.3_Silent_p.P391P NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN Homo sapiens plexin A1 (PLXNA1), mRNA. 1746 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) GCAGCCTGCCCCTGCGCTTCT 0.602000 97 10 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97544590 97544590 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:97544590C>T uc001drv.3 - 22 3157 c.3020G>A c.(3019-3021)aGg>aAg p.R1007K NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 1007 4Fe-4S ferredoxin-type 3. 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AGGTGTTGTCCTGGAAACCAT 0.463000 174 18 0 0 1 0 0 LHFPL5 222662 broad.mit.edu 37 6 35773726 35773726 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:35773726C>T uc003olg.1 + 0 656 c.279C>T c.(277-279)gcC>gcT p.A93A NM_182548 NP_872354 Q8TAF8 TMHS_HUMAN Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA. 93 integral to membrane endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1) 20 CCTCTAGAGCCTTCAAGACTG 0.552000 229 19 0 0 1 0 0 ART1 417 broad.mit.edu 37 11 3681549 3681549 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:3681549G>A uc001lye.1 + 2 901 c.800G>A c.(799-801)cGa>cAa p.R267Q ART1_uc009yeb.1_Missense_Mutation_p.R267Q NM_004314 NP_004305 P52961 NAR1_HUMAN Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA. 267 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1) 8 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) ATCTACCTCCGAGCCCTGGGC 0.607000 124 15 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857300 9857300 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:9857300G>A uc010uym.2 - 13 4411 c.4101C>T c.(4099-4101)ttC>ttT p.F1367F GRIN2A_uc002czo.4_Silent_p.F1367F|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1367 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.P1366L(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGGAGTGGAGGAAAGGGTTAT 0.547000 47 4 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47945536 47945536 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:47945536G>A uc003tny.2 - 9 1460 c.1426C>T c.(1426-1428)Cca>Tca p.P476S NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 476 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GGAATAGATGGAAAGTGATGT 0.368000 42 4 0 0 1 0 0 ACVR2B 93 broad.mit.edu 37 3 38523757 38523757 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:38523757C>T uc003cif.3 + 8 1167 c.1143C>T c.(1141-1143)ttC>ttT p.F381F ACVR2B_uc003cig.3_Silent_p.F172F NM_001106 NP_001097 Q13705 AVR2B_HUMAN Homo sapiens activin A receptor, type IIB (ACVR2B), mRNA. 381 Protein kinase. BMP signaling pathway|activin receptor signaling pathway|anterior/posterior pattern formation|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent cell surface|cytoplasm|integral to plasma membrane ATP binding|activin receptor activity|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity lung(1) 1 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071) GAGATGCCTTCCTGCGCATTG 0.567000 41 7 0 0 1 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52000608 52000608 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:52000608G>A uc002pwx.1 - 5 1553 c.1497C>T c.(1495-1497)ttC>ttT p.F499F SIGLEC12_uc002pww.1_Silent_p.F381F|SIGLEC12_uc010eoy.1_Silent_p.F226F NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA. 499 cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) CTCACACAACGAAGATGATGC 0.572000 135 12 0 0 1 0 0 BPIFB3 359710 broad.mit.edu 37 20 31656616 31656616 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:31656616G>A uc002wym.1 + 9 986 c.986G>A c.(985-987)gGg>gAg p.G329E NM_182658 NP_872599 P59826 LPLC3_HUMAN Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA. 329 innate immune response cytoplasm|extracellular region lipid binding|protein binding CAGGCCCTGGGGAAGCTGCCC 0.582000 53 3 0 0 1 0 0 OR2A5 393046 broad.mit.edu 37 7 143747940 143747940 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:143747940G>A uc011ktw.2 + 0 446 c.446G>A c.(445-447)tGg>tAg p.W149* NM_012365 NP_036497 Q96R48 OR2A5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA. 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W149L(2) cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) GTCACTTCTTGGGCATGTGGT 0.522000 194 32 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50212466 50212466 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:50212466C>T uc001zxu.3 - 17 2042 c.1900G>A c.(1900-1902)Gaa>Aaa p.E634K ATP8B4_uc010ber.3_Missense_Mutation_p.E507K|ATP8B4_uc010ufd.2_Missense_Mutation_p.E444K|ATP8B4_uc010ufe.2_Non-coding_Transcript NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 634 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.E634K(2) breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TCAATTTCTTCATATAGCCCA 0.393000 194 15 0 0 1 0 0 SLC7A2 6542 broad.mit.edu 37 8 17417918 17417918 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:17417918G>A uc011kye.2 + 8 1548 c.1500G>A c.(1498-1500)tcG>tcA p.S500S SLC7A2_uc011kyc.2_Silent_p.S460S|SLC7A2_uc011kyd.2_Silent_p.S499S NM_001164771 NP_001158243 P52569 CTR2_HUMAN Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA. 460 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) GGGTAACCTCGAAGAGTGAGT 0.542000 59 8 0 0 1 0 0 TNP2 7142 broad.mit.edu 37 16 11361866 11361866 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:11361866C>T uc002das.3 - 1 445 c.404G>A c.(403-405)tGg>tAg p.W135* RMI2_uc002daq.1_Intron NM_005425 NP_005416 Q05952 STP2_HUMAN Homo sapiens transition protein 2 (during histone to protamine replacement) (TNP2), mRNA. 135 cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding p.0?(1) large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 GTTGGATTTCCATCCTAAGGG 0.443000 29 3 0 0 1 0 0 TUBE1 51175 broad.mit.edu 37 6 112392637 112392637 + Missense_Mutation SNP G A A rs17856920 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:112392637G>A uc003pvq.3 - 11 1520 c.1406C>T c.(1405-1407)cCc>cTc p.P469L NM_016262 NP_057346 Q9UJT0 TBE_HUMAN Homo sapiens tubulin, epsilon 1 (TUBE1), mRNA. 469 P -> R (in Ref. 4; AAH31101). centrosome cycle|microtubule-based movement|protein polymerization microtubule|pericentriolar material GTP binding|GTPase activity|structural constituent of cytoskeleton cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 12 all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1) all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) GCTTAGTCTGGGTAAATCCTG 0.363000 142 14 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86468433 86468433 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:86468433G>A uc003uid.3 + 3 2702 c.1603G>A c.(1603-1605)Gaa>Aaa p.E535K GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.E407K|GRM3_uc010leh.3_Missense_Mutation_p.E127K NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 535 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CATCCCCTGTGAACCCTACGA 0.532000 152 10 0 0 1 0 0 ZNF589 51385 broad.mit.edu 37 3 48310173 48310173 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:48310173C>T uc003csl.4 + 3 1058 c.992C>T c.(991-993)tCg>tTg p.S331L ZNF589_uc010hjt.2_Missense_Mutation_p.S328L|ZNF589_uc003csn.3_Non-coding_Transcript|ZNF589_uc011bbg.2_Intron|ZNF589_uc003csm.3_Intron NM_016089 NP_057173 Q86UQ0 ZN589_HUMAN Homo sapiens zinc finger protein 589 (ZNF589), mRNA. 331 regulation of transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGGGAGAAATCGTTTATGTGC 0.502000 142 13 0 0 1 0 0 ENTPD4 9583 broad.mit.edu 37 8 23290577 23290577 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:23290577G>A uc003xdl.3 - 12 1985 c.1713C>T c.(1711-1713)ttC>ttT p.F571F ENTPD4_uc011kzu.1_Intron|ENTPD4_uc003xdm.3_Silent_p.F563F NM_004901 NP_004892 Q9Y227 ENTP4_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA. 571 UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) GCACCACCAGGAAGCAGCCAG 0.652000 128 7 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107331809 107331809 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:107331809G>A uc011lvo.2 + 0 361 c.361G>A c.(361-363)Gac>Aac p.D121N NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L120Q(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 GATGGCACTGGACCGCTATGT 0.522000 60 12 0 0 1 0 0 NCAPG2 54892 broad.mit.edu 37 7 158457348 158457348 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:158457348G>A uc011kwe.1 - 13 1719 c.1574C>T c.(1573-1575)tCt>tTt p.S525F NCAPG2_uc010lqu.1_Missense_Mutation_p.S317F|NCAPG2_uc003wnx.1_Missense_Mutation_p.S525F|NCAPG2_uc003wnv.1_Missense_Mutation_p.S525F|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Missense_Mutation_p.S26F|NCAPG2_uc011kwd.1_Missense_Mutation_p.S26F NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA. 525 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) AGGCAGGAAAGAATTAAAGAT 0.547000 162 9 0 0 1 0 0 RSPH1 89765 broad.mit.edu 37 21 43912898 43912898 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:43912898A>T uc002zbg.3 - 2 349 c.244T>A c.(244-246)Ttt>Att p.F82I NM_080860 NP_543136 Q8WYR4 RSPH1_HUMAN Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA. 82 meiosis cytosol|nucleus large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1) 12 GGATATATAAAAGTGCCTTGA 0.328000 128 10 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1268923 1268923 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:1268923G>A uc001lta.3 + 30 10872 c.10813G>A c.(10813-10815)Gga>Aga p.G3605R NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 3605 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCGTGCGGCCGGAGGGGCAGT 0.682000 73 8 0 0 1 0 0 TRBV4-1 28617 broad.mit.edu 37 7 142013366 142013366 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142013366C>T uc003vxg.3 + 1 250 c.221C>T c.(220-222)tCt>tTt p.S74F TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; GAGAAACTCTCTATAAATGAA 0.478000 134 7 0 0 1 0 0 TNNC1 7134 broad.mit.edu 37 3 52485521 52485521 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:52485521G>A uc003deb.3 - 4 366 c.340C>T c.(340-342)Ctg>Ttg p.L114L NM_003280 NP_003271 P63316 TNNC1_HUMAN Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA. 114 EF-hand 3. cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding endometrium(1)|lung(3)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525) Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922) AGCTCATCCAGGTCGATGTAG 0.612000 83 7 0 0 1 0 0 SMPD2 6610 broad.mit.edu 37 6 109763470 109763470 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:109763470A>T uc003pti.3 + 4 770 c.376A>T c.(376-378)Agt>Tgt p.S126C PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank|PPIL6_uc003pth.1_5'Flank NM_003080 NP_003071 O60906 NSMA_HUMAN Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA. 126 induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process integral to plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity p.L125V(1) endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2) 8 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566) GCTCCATCTAAGTGGCATGGT 0.577000 68 6 0 0 1 0 0 FGG 2266 broad.mit.edu 37 4 155530860 155530860 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:155530860T>C uc003ioj.3 - 5 729 c.588A>G c.(586-588)aaA>aaG p.K196K FGG_uc003iog.3_Silent_p.K196K NM_021870 NP_068656 P02679 FIBG_HUMAN Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA. 196 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CTTTCAGAGGTTTAATAAAGT 0.408000 62 4 0 0 1 0 0 SOX14 8403 broad.mit.edu 37 3 137483759 137483759 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:137483759G>A uc003erm.2 + 0 626 c.133G>A c.(133-135)Gaa>Aaa p.E45K NM_004189 NP_004180 O95416 SOX14_HUMAN Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA. 45 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding large_intestine(2)|lung(12) 14 CCTAGGTGCCGAATGGAAGCT 0.587000 38 9 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51378816 51378816 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:51378816G>A uc011bds.2 + 38 3938 c.3915_splice c.e38+1 p.K1305_splice NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 1305 DHR-2. cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) ACAAAGGCAAGGTATGCATCA 0.532000 33 3 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142572287 142572287 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142572287C>T uc003wbx.2 - 10 1638 c.1409G>A c.(1408-1410)cGa>cAa p.R470Q TRPV6_uc003wbw.1_Missense_Mutation_p.R256Q|TRPV6_uc010lou.1_Missense_Mutation_p.R341Q NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA. 470 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CTGGAATCCTCGGGCGAAGTA 0.592000 144 7 0 0 1 0 0 PPYR1 5540 broad.mit.edu 37 10 47087904 47087904 + Missense_Mutation SNP C T T rs143707760 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:47087904C>T uc001jee.3 + 2 1540 c.1121C>T c.(1120-1122)cCc>cTc p.P374L ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.P374L|PPYR1_uc021ppu.1_Missense_Mutation_p.P374L NM_005972 NP_005963 P50391 NPY4R_HUMAN Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA. 374 blood circulation|digestion|feeding behavior integral to plasma membrane p.P374L(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 AGGTCCAATCCCATTTAACCA 0.587000 126 6 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104641648 104641648 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:104641648C>T uc001yos.4 + 11 2523 c.2523C>T c.(2521-2523)ttC>ttT p.F841F NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN Homo sapiens kinesin family member 26A (KIF26A), mRNA. 841 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GCAGCACCTTCGCGGAGCTGC 0.697000 44 7 0 0 1 0 0 RSRC1 51319 broad.mit.edu 37 3 157920883 157920883 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:157920883C>T uc003fbt.3 + 3 454 c.343C>T c.(343-345)Cgt>Tgt p.R115C RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Missense_Mutation_p.R115C|RSRC1_uc003fbv.3_Intron NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA. 115 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) ACCTCGTCTCCGTTCTCATAG 0.398000 26 4 0 0 1 0 0 GOLGA2 2801 broad.mit.edu 37 9 131019733 131019733 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:131019733G>A uc011maw.2 - 24 2722 c.2709C>T c.(2707-2709)ttC>ttT p.F903F GOLGA2_uc010mxw.3_Silent_p.F226F|GOLGA2_uc004buh.3_Intron|DQ583972_uc022boe.1_5'Flank|DQ583692_uc022bog.1_5'Flank NM_004486 NP_004477 Q08379 GOGA2_HUMAN Homo sapiens golgin A2 (GOLGA2), mRNA. 903 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 CAGCTGCCAGGAATCTGCCAT 0.647000 40 6 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141794561 141794561 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141794561C>T uc003vwy.3 + 39 4722 c.4668C>T c.(4666-4668)atC>atT p.I1556I NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1556 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GAGCAGATATCTGTGGGTTCT 0.483000 40 3 0 0 1 0 0 ANKRD20A2 441430 broad.mit.edu 37 2 95464631 95464631 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:95464631C>T uc010fhp.3 - 16 c.2759G>A Q5SQ80 A20A2_HUMAN Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA. large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 4 TTTTTATCCTCCTCAAGTTTT 0.294000 16 3 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 409160 409160 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:409160G>A uc001ifp.3 - 20 2659 c.2569C>T c.(2569-2571)Cag>Tag p.Q857* DIP2C_uc009xhi.1_Nonsense_Mutation_p.Q243*|DIP2C_uc010pzz.1_Nonsense_Mutation_p.Q178* NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA. 857 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CTCATCCACTGGAAACTGTCC 0.597000 83 5 0 0 1 0 0 BTN1A1 696 broad.mit.edu 37 6 26505198 26505198 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:26505198G>A uc003nif.4 + 2 530 c.473G>A c.(472-474)gGa>gAa p.G158E NM_001732 NP_001723 Q13410 BT1A1_HUMAN Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA. 158 Ig-like V-type 2. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 CAAGAGAATGGAGAAATCTGT 0.502000 51 4 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158323802 158323802 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:158323802C>T uc001fse.3 + 0 317 c.24C>T c.(22-24)ttC>ttT p.F8F CD1E_uc010pid.2_Intron|CD1E_uc010pie.2_Silent_p.F8F|CD1E_uc001fsh.3_Silent_p.F8F|CD1E_uc001fry.3_Silent_p.F8F|CD1E_uc001fsf.3_Silent_p.F8F|CD1E_uc001fsg.3_Silent_p.F8F|CD1E_uc009wsv.3_Silent_p.F8F|CD1E_uc001fsj.3_Silent_p.F8F|CD1E_uc001fsk.3_Silent_p.F8F|CD1E_uc001fsa.3_Silent_p.F8F|CD1E_uc001fsd.3_Silent_p.F8F|CD1E_uc001frz.3_Silent_p.F8F|CD1E_uc010pig.2_Silent_p.F8F|CD1E_uc001fsc.3_Silent_p.F8F|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA. 8 antigen processing and presentation|immune response Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen p.F8L(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) TCCTCCTCTTCGAGGGTCTCT 0.522000 58 9 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8626763 8626763 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:8626763G>A uc002wnb.3 + 4 402 c.399G>A c.(397-399)gaG>gaA p.E133E PLCB1_uc010zrb.1_Silent_p.E32E|PLCB1_uc010gbv.1_Silent_p.E133E|PLCB1_uc002wmz.1_Silent_p.E133E|PLCB1_uc002wna.3_Silent_p.E133E|PLCB1_uc002wnc.1_Silent_p.E32E NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 133 CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 GGACAAATGAGGTTTTCAGTT 0.408000 74 12 0 0 1 0 0 NPTXR 23467 broad.mit.edu 37 22 39222561 39222561 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:39222561C>T uc003awk.3 - 2 1196 c.1042G>A c.(1042-1044)Gag>Aag p.E348K NM_014293 NP_055108 O95502 NPTXR_HUMAN Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA. 348 Pentaxin. integral to membrane metal ion binding central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) AGTACAATCTCGTTGGCCTGC 0.672000 157 12 0 0 1 0 0 BC032026 0 broad.mit.edu 37 15 101098935 101098935 + RNA SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:101098935G>A uc002bwc.1 + 0 c.51G>A Homo sapiens cDNA clone IMAGE:4822975. ACTTGAGGGCGAAGAAATGCT 0.617000 72 5 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182542564 182542564 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:182542564G>A uc021vto.1 - 0 1024 c.1024C>T c.(1024-1026)Cat>Tat p.H342Y CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.H342Y|NEUROD1_uc021vtn.1_Missense_Mutation_p.H342Y NM_002500 NP_002491 Q13562 NDF1_HUMAN Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA. 342 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) ACTCGCTCATGATGTGAATGG 0.522000 155 6 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11522871 11522871 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:11522871A>G uc002gne.3 + 5 1191 c.1123A>G c.(1123-1125)Aat>Gat p.N375D NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 375 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCAGGCCTCTAATTATCTCAG 0.433000 104 7 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68526117 68526117 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:68526117G>A uc009xpn.1 - 8 1309 c.1186C>T c.(1186-1188)Ctt>Ttt p.L396F CTNNA3_uc001jmw.2_Missense_Mutation_p.L396F|CTNNA3_uc001jmx.4_Missense_Mutation_p.L396F NM_001127384 NP_037398 Q9UI47 CTNA3_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA. 396 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 AGAACCAAAAGAGGGACTGTC 0.403000 56 4 0 0 1 0 0 CCL24 6369 broad.mit.edu 37 7 75442967 75442967 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:75442967G>A uc011kga.2 - 0 126 c.67C>T c.(67-69)Cct>Tct p.P23S NM_002991 NP_002982 O00175 CCL24_HUMAN Homo sapiens chemokine (C-C motif) ligand 24 (CCL24), mRNA. 23 cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|signal transduction extracellular space chemokine activity endometrium(1)|lung(2) 3 TTACCCGTAGGGATGATGTGG 0.607000 160 18 0 0 1 0 0 SLC36A2 153201 broad.mit.edu 37 5 150715010 150715010 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:150715010G>A uc003lty.3 - 5 754 c.624C>T c.(622-624)ttC>ttT p.F208F SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Silent_p.F10F|SLC36A2_uc010jhv.2_Silent_p.F208F NM_181776 NP_861441 Q495M3 S36A2_HUMAN Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA. 208 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGAAGGGCAGGAAGGAGAGCA 0.527000 133 12 0 0 1 0 0 LALBA 3906 broad.mit.edu 37 12 48963707 48963707 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:48963707C>T uc001rrt.3 - 0 123 c.97G>A c.(97-99)Gac>Aac p.D33N NM_002289 NP_002280 P00709 LALBA_HUMAN Homo sapiens lactalbumin, alpha- (LALBA), mRNA. 33 cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction extracellular space calcium ion binding|lactose synthase activity large_intestine(1)|stomach(2) 3 CCATCTATGTCTTTCAGCAGC 0.502000 37 5 0 0 1 0 0 ZNF441 126068 broad.mit.edu 37 19 11891765 11891765 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:11891765C>T uc010dyj.3 + 3 1320 c.1126C>T c.(1126-1128)Ccc>Tcc p.P376S ZNF441_uc002msn.4_Missense_Mutation_p.P332S NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN Homo sapiens zinc finger protein 441 (ZNF441), mRNA. 376 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G376E(1) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CTTTGATTCTCCCAGTTTATG 0.408000 140 10 0 0 1 0 0 C11orf42 160298 broad.mit.edu 37 11 6231359 6231359 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:6231359G>A uc001mcj.3 + 1 400 c.352G>A c.(352-354)Gga>Aga p.G118R NM_173525 NP_775796 Q8N5U0 CK042_HUMAN Homo sapiens chromosome 11 open reading frame 42 (C11orf42), mRNA. 118 endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AATGTTGGATGGACAGCCCTG 0.582000 116 8 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127875 117127875 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:117127875C>T uc003pxj.1 - 2 1015 c.993G>A c.(991-993)ggG>ggA p.G331G GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Silent_p.G331G NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 331 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AGGATATATTCCCTCTTCTAA 0.403000 76 4 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227387341 227387341 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:227387341G>A uc001hqr.3 - 3 1310 c.367C>T c.(367-369)Cgt>Tgt p.R123C CDC42BPA_uc001hqs.3_Missense_Mutation_p.R123C|CDC42BPA_uc009xes.3_Missense_Mutation_p.R123C|CDC42BPA_uc010pvs.2_Missense_Mutation_p.R123C NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA. 123 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.R123C(3) NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) CTTTCTTCACGAAAACATGCT 0.284000 49 6 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42436648 42436648 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:42436648C>T uc001zoz.3 - 17 2067 c.1975_splice c.e17+1 p.D659_splice PLA2G4F_uc010bcq.3_Splice_Site_p.K11_splice|PLA2G4F_uc001zoy.3_Splice_Site_p.D291_splice|PLA2G4F_uc001zpa.3_Splice_Site_p.D410_splice|PLA2G4F_uc010bcr.3_Splice_Site_p.D410_splice|PLA2G4F_uc010bcs.3_Splice_Site_p.D446_splice NM_213600 NP_998765 Q68DD2 PA24F_HUMAN Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA. 659 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) CAGCACCCACCTTTCCAGGCC 0.617000 57 5 0 0 1 0 0 ITGB3BP 23421 broad.mit.edu 37 1 63920636 63920636 + Missense_Mutation SNP G T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:63920636G>T uc001dbb.2 - 5 515 c.375C>A c.(373-375)ttC>ttA p.F125L ITGB3BP_uc001dbc.2_Non-coding_Transcript|ITGB3BP_uc001dba.2_Missense_Mutation_p.F86L|ITGB3BP_uc009wak.1_Missense_Mutation_p.F108L NM_001206739 NP_001193668 Q13352 CENPR_HUMAN Homo sapiens integrin beta 3 binding protein (beta3-endonexin) (ITGB3BP), transcript variant 1, mRNA. 86 CenH3-containing nucleosome assembly at centromere|apoptosis|cell adhesion|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm protein C-terminus binding|signal transducer activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 9 GCAACATCATGAATCTAGTAA 0.308000 24 3 0.184627 0.184909 1 1 0 GRM8 2918 broad.mit.edu 37 7 126410044 126410044 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:126410044G>A uc003vlr.2 - 5 1543 c.1232C>T c.(1231-1233)tCc>tTc p.S411F GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.S411F|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.S132F NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 411 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GTAAGCCATGGAATATACAGC 0.428000 HNSCC(24;0.065) 25 8 0 0 1 0 0 CD101 9398 broad.mit.edu 37 1 117561111 117561111 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:117561111C>T uc010oxb.1 + 5 2004 c.1946C>T c.(1945-1947)tCc>tTc p.S649F CD101_uc009whd.3_Missense_Mutation_p.S649F|CD101_uc010oxc.1_Missense_Mutation_p.S649F|CD101_uc010oxd.1_Missense_Mutation_p.S587F NM_004258 NP_004249 Q93033 IGSF2_HUMAN Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA. 649 Ig-like C2-type 5. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GACAGAAATTCCCTATACAAC 0.468000 78 11 0 0 1 0 0 C12orf50 160419 broad.mit.edu 37 12 88379810 88379810 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:88379810G>A uc001tam.1 - 10 1111 c.943C>T c.(943-945)Caa>Taa p.Q315* C12orf50_uc001tan.3_Nonsense_Mutation_p.Q330* NM_152589 NP_689802 Q8NA57 CL050_HUMAN Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA. 315 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 ATTTTATTTTGGGGTCTTGGG 0.423000 65 4 0 0 1 0 0 C10orf54 64115 broad.mit.edu 37 10 73521639 73521639 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:73521639G>A uc001jsd.3 - 1 368 c.227C>T c.(226-228)tCg>tTg p.S76L CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_5'UTR NM_022153 NP_071436 Q9H7M9 GI24_HUMAN Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA. 76 Ig-like. integral to membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 CTCGCCCCTCGAGCTGCGGTA 0.642000 68 7 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762055 92762055 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:92762055C>T uc003umh.1 - 4 4446 c.3230G>A c.(3229-3231)cGa>cAa p.R1077Q SAMD9L_uc003umj.1_Missense_Mutation_p.R1077Q|SAMD9L_uc003umi.1_Missense_Mutation_p.R1077Q|SAMD9L_uc010lfb.1_Missense_Mutation_p.R1077Q|SAMD9L_uc003umk.1_Missense_Mutation_p.R1077Q|SAMD9L_uc010lfc.1_Missense_Mutation_p.R1077Q|SAMD9L_uc010lfd.1_Missense_Mutation_p.R1077Q|SAMD9L_uc022ahh.1_Missense_Mutation_p.R1077Q NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 1077 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TTGTGGGAATCGTCTACTTCC 0.418000 87 11 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70502226 70502226 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:70502226G>A uc001dep.3 + 17 2123 c.2093G>A c.(2092-2094)gGa>gAa p.G698E LRRC7_uc009wbg.3_Intron|LRRC7_uc001deq.3_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA. 698 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GCTTCCTCAGGATCCTCTAAT 0.453000 80 11 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101580569 101580569 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:101580569C>T uc010yvt.1 + 7 845 c.843C>T c.(841-843)tgC>tgT p.C281C NPAS2_uc002tap.1_Silent_p.C216C NM_002518 NP_002509 Q99743 NPAS2_HUMAN Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA. 216 PAS 2. central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CAAGACCTTGCCGGGTGCCAC 0.527000 79 7 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121238 38121238 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:38121238C>T uc003atr.3 + 6 2946 c.2675C>T c.(2674-2676)cCc>cTc p.P892L TRIOBP_uc003atu.3_Missense_Mutation_p.P720L|TRIOBP_uc003atq.1_Missense_Mutation_p.P892L|TRIOBP_uc003ats.1_Missense_Mutation_p.P720L NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 892 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TGGAACAATCCCAGGAATTCA 0.532000 330 61 0 0 1 0 0 TRAV12-1 28674 broad.mit.edu 37 14 22309704 22309704 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:22309704C>T uc001wbx.2 + 1 189 c.88C>T c.(88-90)Cct>Tct p.P30S TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 232. GGAGCAGGATCCTGGACCCTT 0.493000 35 4 0 0 1 0 0 RABL3 285282 broad.mit.edu 37 3 120449598 120449598 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:120449598T>C uc003edx.3 - 1 113 c.83A>G c.(82-84)cAa>cGa p.Q28R NM_173825 NP_776186 Q5HYI8 RABL3_HUMAN Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA. 28 Small GTPase-like. small GTPase mediated signal transduction GTP binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10) 17 GBM - Glioblastoma multiforme(114;0.151) CACTTGATTTTGGCATAGGAG 0.383000 83 8 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100841761 100841761 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:100841761G>A uc003pqj.4 - 9 1639 c.1172C>T c.(1171-1173)tCg>tTg p.S391L SIM1_uc021zdg.1_Missense_Mutation_p.S391L|SIM1_uc010kcu.3_Missense_Mutation_p.S391L NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 391 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GTGAAATCCCGAATACTGAAA 0.463000 47 6 0 0 1 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67171795 67171795 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:67171795G>A uc001ola.3 + 1 151 c.122G>A c.(121-123)gGa>gAa p.G41E PPP1CA_uc001oku.1_5'Flank|PPP1CA_uc001okv.1_5'Flank|PPP1CA_uc001okw.1_5'Flank|PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_Missense_Mutation_p.G41E|TBC1D10C_uc001olb.3_Non-coding_Transcript NM_198517 NP_940919 Q8IV04 TB10C_HUMAN Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA. 41 intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GACCGCTATGGATTCATTGGG 0.652000 59 4 0 0 1 0 0 F11 2160 broad.mit.edu 37 4 187201273 187201273 + Missense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:187201273C>A uc003iza.1 + 7 1196 c.863C>A c.(862-864)cCa>cAa p.P288Q NM_000128 NP_000119 P03951 FA11_HUMAN Homo sapiens coagulation factor XI (F11), mRNA. 288 blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) CACAGCATCCCAGGTAAACTG 0.502000 44 5 1 1 1 1 0 FAM55A 120400 broad.mit.edu 37 11 114400916 114400916 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:114400916C>T uc001ppa.3 - 2 805 c.388G>A c.(388-390)Gaa>Aaa p.E130K FAM55A_uc010rxd.2_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.E272K NM_152315 NP_689528 Q8N323 FA55A_HUMAN Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA. 272 extracellular region breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 17 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) AGGCTGTTTTCCTTGTCTGTA 0.463000 53 6 0 0 1 0 0 CDSN 1041 broad.mit.edu 37 6 31084379 31084379 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:31084379G>A uc003nsm.2 - 1 1069 c.1013C>T c.(1012-1014)tCc>tTc p.S338F PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron NM_001264 NP_001255 Q15517 CDSN_HUMAN Homo sapiens corneodesmosin (CDSN), mRNA. 338 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 AGCTGCAAAGGAAGGGACCCC 0.552000 36 5 0 0 1 0 0 POPDC3 64208 broad.mit.edu 37 6 105609476 105609476 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:105609476G>A uc003prb.3 - 1 711 c.309C>T c.(307-309)acC>acT p.T103T BVES-AS1_uc003pqz.3_Intron|POPDC3_uc003pra.3_Intron NM_022361 NP_071756 Q9HBV1 POPD3_HUMAN Homo sapiens popeye domain containing 3 (POPDC3), transcript variant 1, mRNA. 103 integral to membrane NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1) 26 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) CTCGGGCAAAGGTTATGCTGC 0.433000 266 20 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13563791 13563791 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:13563791G>A uc002mwy.3 - 2 674 c.438C>T c.(436-438)ttC>ttT p.F146F CACNA1A_uc010xnd.2_Silent_p.F146F|CACNA1A_uc021ups.1_Silent_p.F146F|CACNA1A_uc010xne.2_Silent_p.F146F|CACNA1A_uc010dze.2_Silent_p.F146F|CACNA1A_uc021upt.1_Silent_p.F146F NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 146 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TTCCAGCCTCGAAACAAAAAA 0.483000 74 4 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156642784 156642784 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:156642784G>A uc001fpq.3 - 3 1329 c.1196C>T c.(1195-1197)cCt>cTt p.P399L NES_uc021pbh.1_5'Flank NM_006617 NP_006608 P48681 NEST_HUMAN Homo sapiens nestin (NES), mRNA. 399 Tail. G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATCTACAGCAGGAGAGGGTGC 0.612000 222 17 0 0 1 0 0 CDYL2 124359 broad.mit.edu 37 16 80718715 80718715 + Silent SNP G C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:80718715G>C uc002ffs.3 - 1 441 c.336C>G c.(334-336)ccC>ccG p.P112P NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA. 112 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 GCTTGGCCAGGGGAGGGTTAA 0.547000 50 7 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32090919 32090919 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:32090919G>A uc003jhl.3 + 19 7753 c.7365G>A c.(7363-7365)acG>acA p.T2455T PDZD2_uc003jhm.3_Silent_p.T2455T NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 2455 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CCACCCCAACGATGACCCTGG 0.567000 96 13 0 0 1 0 0 GSDMA 284110 broad.mit.edu 37 17 38128426 38128426 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:38128426G>A uc002htl.1 + 5 818 c.700G>A c.(700-702)Gga>Aga p.G234R GSDMA_uc002htm.1_Missense_Mutation_p.G234R NM_178171 NP_835465 Q96QA5 GSDMA_HUMAN Homo sapiens gasdermin A (GSDMA), mRNA. 234 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 CTTCCCTCCTGGAGGTAAGTG 0.502000 39 3 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48629120 48629120 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:48629120G>A uc003ctz.2 - 10 1494 c.1493C>T c.(1492-1494)aCc>aTc p.T498I NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 498 Fibronectin type-III 3.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGAACCACGGTTGCAGGGGT 0.652000 72 12 0 0 1 0 0 CTNND1 1500 broad.mit.edu 37 11 57575908 57575908 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:57575908C>T uc001nmc.4 + 13 2709 c.2138C>T c.(2137-2139)tCt>tTt p.S713F CTNND1_uc001nlf.2_Missense_Mutation_p.S713F|CTNND1_uc021qjk.1_Missense_Mutation_p.S707F|CTNND1_uc001nlh.1_Missense_Mutation_p.S713F|CTNND1_uc001nlj.4_Missense_Mutation_p.S653F|CTNND1_uc001nlq.4_Missense_Mutation_p.S612F|CTNND1_uc001nlr.4_Missense_Mutation_p.S653F|CTNND1_uc001nln.4_Missense_Mutation_p.S707F|CTNND1_uc001nli.4_Missense_Mutation_p.S707F|CTNND1_uc001nlo.4_Missense_Mutation_p.S606F|CTNND1_uc001nlp.4_Missense_Mutation_p.S653F|CTNND1_uc001nlu.4_Missense_Mutation_p.S606F|CTNND1_uc001nlt.4_Missense_Mutation_p.S606F|CTNND1_uc001nlv.4_Missense_Mutation_p.S606F|CTNND1_uc001nls.4_Missense_Mutation_p.S606F|CTNND1_uc001nlw.4_Missense_Mutation_p.S606F|CTNND1_uc001nmf.4_Missense_Mutation_p.S713F|CTNND1_uc001nlx.4_Missense_Mutation_p.S390F|CTNND1_uc001nlz.4_Missense_Mutation_p.S390F|CTNND1_uc009ymn.3_Missense_Mutation_p.S384F|CTNND1_uc001nly.4_Missense_Mutation_p.S384F|CTNND1_uc001nmb.4_Missense_Mutation_p.S384F|CTNND1_uc001nma.4_Missense_Mutation_p.S384F|CTNND1_uc001nmd.4_Missense_Mutation_p.S659F|CTNND1_uc001nlk.4_Missense_Mutation_p.S659F|CTNND1_uc001nme.4_Missense_Mutation_p.S707F|CTNND1_uc001nll.4_Missense_Mutation_p.S653F|CTNND1_uc001nlm.4_Missense_Mutation_p.S707F|CTNND1_uc001nmi.4_Missense_Mutation_p.S612F|CTNND1_uc001nmg.4_Missense_Mutation_p.S653F|CTNND1_uc001nmh.4_Missense_Mutation_p.S707F NM_001085458 NP_001078932 O60716 CTND1_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA. 713 Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) AAGGCTCTTTCTGCCATAGCT 0.463000 85 4 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140476711 140476711 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140476711G>A uc003lil.3 + 0 2475 c.2337G>A c.(2335-2337)caG>caA p.Q779Q PCDHB2_uc003lim.1_Silent_p.Q440Q NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN Homo sapiens protocadherin beta 2 (PCDHB2), mRNA. 779 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGTTGCTCAGGGTGCAGAGA 0.478000 120 10 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34076818 34076818 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:34076818C>T uc001bxm.1 - 40 6343 c.6166G>A c.(6166-6168)Gag>Aag p.E2056K CSMD2_uc001bxn.1_Missense_Mutation_p.E2016K|CSMD2_uc001bxo.1_Missense_Mutation_p.E929K NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2016 CUB 12. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGGTTGGGCTCGGTGGAGAAG 0.557000 56 5 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38949510 38949510 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:38949510G>A uc021wvy.1 - 9 1602 c.1403C>T c.(1402-1404)tCc>tTc p.S468F NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 468 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CAAAAAGAAGGACTTCCTTTT 0.398000 61 6 0 0 1 0 0 PADI2 11240 broad.mit.edu 37 1 17410329 17410329 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:17410329C>T uc001baf.3 - 8 1024 c.942G>A c.(940-942)atG>atA p.M314I PADI2_uc010ocm.2_Missense_Mutation_p.M198I|PADI2_uc001bag.1_Missense_Mutation_p.M314I NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA. 314 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) AATTATCCTTCATGCTGAGAA 0.527000 88 8 0 0 1 0 0 MKL1 57591 broad.mit.edu 37 22 40827465 40827465 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:40827465C>T uc003ayv.1 - 2 290 c.83G>A c.(82-84)cGg>cAg p.R28Q MKL1_uc010gyf.1_Missense_Mutation_p.R28Q|MKL1_uc003ayw.1_Missense_Mutation_p.R28Q|MKL1_uc010gye.1_Missense_Mutation_p.R28Q NM_020831 NP_065882 Q969V6 MKL1_HUMAN Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA. 28 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 ACGAATCTTCCGTTTGAGATA 0.483000 T RBM15 acute megakaryocytic leukemia 307 19 0 0 1 0 0 PPIG 9360 broad.mit.edu 37 2 170488369 170488369 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:170488369C>T uc002uez.3 + 10 1075 c.855C>T c.(853-855)ttC>ttT p.F285F PPIG_uc010fpx.3_Silent_p.F270F|PPIG_uc010fpy.3_Silent_p.F278F|PPIG_uc002ufa.3_Silent_p.F285F|PPIG_uc002ufb.3_Silent_p.F285F|PPIG_uc002ufd.3_Silent_p.F282F NM_004792 NP_004783 Q13427 PPIG_HUMAN Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA. 285 RNA splicing|protein folding nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) AAAATAGATTCCTAATGAGAA 0.403000 47 3 0 0 1 0 0 LRFN4 78999 broad.mit.edu 37 11 66626556 66626556 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:66626556C>T uc001ojr.3 + 0 1681 c.1341C>T c.(1339-1341)ctC>ctT p.L447L PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron NM_024036 NP_076941 Q6PJG9 LRFN4_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA. 447 Fibronectin type-III. integral to membrane p.L447L(2) breast(1)|lung(1)|prostate(1) 3 ATGAGACCCTCATCTACCGGT 0.652000 145 28 0 0 1 0 0 IL17A 3605 broad.mit.edu 37 6 52054017 52054017 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:52054017C>T uc003pak.1 + 2 440 c.395C>T c.(394-396)tCc>tTc p.S132F NM_002190 NP_002181 Q16552 IL17_HUMAN Homo sapiens interleukin 17A (IL17A), mRNA. 132 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) TGCCCCAACTCCTTCCGGCTG 0.597000 54 8 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702837 27702837 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:27702837G>A uc001itu.2 - 0 461 c.343C>T c.(343-345)Cac>Tac p.H115Y NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 115 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CAGTCGGTGTGACAGCGGTGC 0.697000 46 5 0 0 1 0 0 ALDOA 226 broad.mit.edu 37 16 30080660 30080660 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:30080660C>T uc010veg.2 + 6 1004 c.736C>T c.(736-738)Ctc>Ttc p.L246F BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.3_Missense_Mutation_p.L192F|ALDOA_uc002dvw.3_Missense_Mutation_p.L192F|ALDOA_uc002dvz.3_Missense_Mutation_p.L192F|ALDOA_uc002dwa.4_Missense_Mutation_p.L192F|ALDOA_uc002dwc.3_Missense_Mutation_p.L192F NM_001243177 NP_001230106 P04075 ALDOA_HUMAN Homo sapiens aldolase A, fructose-bisphosphate (ALDOA), transcript variant 6, mRNA. 192 ATP biosynthetic process|actin filament organization|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction I band|actin cytoskeleton|cytosol|extracellular vesicular exosome|platelet alpha granule lumen actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 17 GCCTGAGATCCTCCCTGATGG 0.597000 OREG0023729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 126 7 0 0 1 0 0 OR8U8 504189 broad.mit.edu 37 11 56143197 56143197 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:56143197C>T uc001nit.2 + 0 98 c.98C>T c.(97-99)tCc>tTc p.S33F NM_001013356 NP_001013374 P0C7N1 OR8U8_HUMAN Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA. 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity CTATTCTTATCCATCTACCTC 0.453000 72 8 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810561 7810561 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:7810561G>A uc002mht.2 - 3 658 c.591C>T c.(589-591)acC>acT p.T197T CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.T173T|CD209_uc002mhr.2_Silent_p.T173T|CD209_uc002mhs.2_Silent_p.T173T|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Silent_p.T197T|CD209_uc002mhq.2_Silent_p.T197T|CD209_uc002mhv.2_Silent_p.T173T|CD209_uc002mhx.2_Silent_p.T153T|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA. 197 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCTTCAGCCGGGTCAGCTCCT 0.567000 131 7 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93515639 93515639 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:93515639C>T uc002bsp.3 + 18 3072 c.2497C>T c.(2497-2499)Cct>Tct p.P833S CHD2_uc002bso.1_Missense_Mutation_p.P833S|CHD2_uc010bog.1_Missense_Mutation_p.P78S|CHD2_uc010boh.1_Intron NM_001271 NP_001262 O14647 CHD2_HUMAN Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA. 833 Helicase C-terminal. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TAAACACTATCCTTTCCAGGT 0.463000 134 9 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95719891 95719891 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:95719891G>A uc009xuj.2 - 0 1782 c.1263C>T c.(1261-1263)ggC>ggT p.G421G Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA. TGCCACTGGAGCCTGCTCGCT 0.507000 48 4 0 0 1 0 0 CNR2 1269 broad.mit.edu 37 1 24202038 24202038 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:24202038C>T uc021oij.1 - 0 70 c.70G>A c.(70-72)Gat>Aat p.D24N CNR2_uc001bif.3_Missense_Mutation_p.D24N NM_001841 NP_001832 P34972 CNR2_HUMAN Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA. 24 G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) ATCATGTAATCCTTCATAGGG 0.537000 202 20 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37866434 37866434 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:37866434C>T uc002hso.3 + 5 977 c.739C>T c.(739-741)Ccc>Tcc p.P247S ERBB2_uc010cwa.3_Missense_Mutation_p.P232S|ERBB2_uc002hsm.3_Missense_Mutation_p.P217S|ERBB2_uc002hsp.3_Missense_Mutation_p.P50S|ERBB2_uc010cwb.3_Missense_Mutation_p.P247S|ERBB2_uc010wek.2_Intron|ERBB2_uc002hsl.3_Missense_Mutation_p.P217S|ERBB2_uc002hsn.1_Missense_Mutation_p.P247S NM_004448 NP_001005862 P04626 ERBB2_HUMAN Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA. 247 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CTGCACGGGCCCCAAGCACTC 0.642000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 94 6 0 0 1 0 0 DNAJB13 374407 broad.mit.edu 37 11 73680333 73680333 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:73680333C>T uc001ouo.3 + 6 1514 c.763C>T c.(763-765)Cgt>Tgt p.R255C NM_153614 NP_705842 P59910 DJB13_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA. 255 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding large_intestine(3)|lung(2) 5 Breast(11;7.42e-05) CCTAGATGACCGTCTGCTCAA 0.572000 104 10 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179453612 179453612 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:179453612C>T uc021vsy.1 - 252 55361 c.55136G>A c.(55135-55137)gGg>gAg p.G18379E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G12074E|TTN_uc021vta.1_Missense_Mutation_p.G12007E|TTN_uc021vtb.1_Missense_Mutation_p.G11882E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 19306 Fibronectin type-III 33. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTTGGAGGCCCTGTGCCTAT 0.418000 24 3 0 0 1 0 0 HTR1F 3355 broad.mit.edu 37 3 88040497 88040497 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:88040497C>T uc003dqr.2 + 1 756 c.598C>T c.(598-600)Ctt>Ttt p.L200F HTR1F_uc021xbd.1_Missense_Mutation_p.L200F NM_000866 NP_000857 P30939 5HT1F_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA. 200 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) GATTTTGATCCTTTACTACAA 0.408000 64 9 0 0 1 0 0 OR2T11 127077 broad.mit.edu 37 1 248790365 248790365 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:248790365C>T uc001ier.1 - 0 65 c.65G>A c.(64-66)gGg>gAg p.G22E NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA. 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAATACAATCCCGGCAGCCTC 0.537000 79 4 0 0 1 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24524035 24524035 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:24524035C>T uc002wtw.1 + 1 935 c.302C>T c.(301-303)tCc>tTc p.S101F NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA. 101 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 GTGCTGCGCTCCTGGGGGGAC 0.637000 129 9 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187541949 187541949 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:187541949C>T uc002upq.3 + 29 3353 c.3077C>T c.(3076-3078)cCa>cTa p.P1026L ITGAV_uc010frs.3_Missense_Mutation_p.P990L|ITGAV_uc010zfv.2_Missense_Mutation_p.P980L NM_002210 NP_002201 P06756 ITAV_HUMAN Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA. 1026 ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) CGGGTCCGGCCACCTCAAGAA 0.378000 23 3 0 0 1 0 0 CPNE1 8904 broad.mit.edu 37 20 34214176 34214176 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:34214176G>A uc010zvj.2 - 15 1983 c.1616C>T c.(1615-1617)gCc>gTc p.A539V CPNE1_uc002xde.3_Missense_Mutation_p.A510V|CPNE1_uc002xdf.3_Missense_Mutation_p.A534V|CPNE1_uc002xdi.3_Missense_Mutation_p.A534V|CPNE1_uc002xdj.3_Missense_Mutation_p.A534V|CPNE1_uc002xdl.3_Missense_Mutation_p.A534V|CPNE1_uc002xdm.3_Missense_Mutation_p.A534V NM_003915 NP_690905 Q99829 CPNE1_HUMAN Homo sapiens copine I (CPNE1), transcript variant 3, mRNA. 534 lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) GGCCTGGGGGGCCTGTGCAGG 0.617000 144 18 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159682262 159682262 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:159682262G>A uc010kjv.3 + 18 5415 c.5215G>A c.(5215-5217)Gga>Aga p.G1739R NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA. 1739 Fibronectin type-III 5. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) TCATGGCTACGGACCTATCAG 0.333000 65 5 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64692100 64692100 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:64692100C>T uc001xgl.3 + 115 20810 c.20580C>T c.(20578-20580)ccC>ccT p.P6860P SYNE2_uc001xgm.3_Silent_p.P6838P|SYNE2_uc010apy.3_Silent_p.P3223P|SYNE2_uc001xgn.3_Silent_p.P1799P|SYNE2_uc021rui.1_Missense_Mutation_p.P1804S|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Silent_p.P808P|SYNE2_uc001xgq.3_Silent_p.P1217P|SYNE2_uc001xgr.3_Silent_p.P621P|SYNE2_uc010tsi.2_Silent_p.P495P|SYNE2_uc001xgs.3_Silent_p.P509P|SYNE2_uc001xgt.3_Silent_p.P382P NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 6838 KASH. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CAGCCCTACCCctgcagctgc 0.647000 43 8 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24413170 24413170 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:24413170C>T uc001bin.4 - 14 1925 c.1762G>A c.(1762-1764)Gag>Aag p.E588K MYOM3_uc001bim.4_Missense_Mutation_p.E245K|MYOM3_uc001bio.3_Missense_Mutation_p.E588K|MYOM3_uc001bip.1_Missense_Mutation_p.E245K NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 588 Fibronectin type-III 2. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TCGCTGGGCTCCGAGGGATCG 0.627000 80 10 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21624965 21624965 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:21624965C>T uc004czx.2 + 18 2593 c.2113C>T c.(2113-2115)Ccc>Tcc p.P705S CNKSR2_uc004czw.3_Missense_Mutation_p.P705S|CNKSR2_uc011mjn.2_Missense_Mutation_p.P656S|CNKSR2_uc011mjo.2_Missense_Mutation_p.P675S|CNKSR2_uc004czy.3_Missense_Mutation_p.P297S NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA. 705 Poly-Pro. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 TAGCCCTCCACCCCCATATGA 0.413000 29 10 0 0 1 0 0 LIPA 3988 broad.mit.edu 37 10 90974677 90974677 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:90974677G>A uc001kgc.4 - 8 1404 c.1114C>T c.(1114-1116)Ccg>Tcg p.P372S LIPA_uc001kgb.4_Missense_Mutation_p.P314S|LIPA_uc010qnf.2_Missense_Mutation_p.P175S|LIPA_uc001kga.4_Missense_Mutation_p.P370S|LIPA_uc009xtq.3_Missense_Mutation_p.P370S NM_001127605 NP_001121077 P38571 LICH_HUMAN Homo sapiens lipase A, lysosomal acid, cholesterol esterase (LIPA), transcript variant 1, mRNA. 370 lipid catabolic process lysosome lipase activity|sterol esterase activity endometrium(1)|large_intestine(2)|lung(3) 6 Colorectal(252;0.0162) GBM - Glioblastoma multiforme(2;0.00406) TCCCATTCCGGAATGCTCTCA 0.463000 66 7 0 0 1 0 0 PPP1R3B 79660 broad.mit.edu 37 8 8998971 8998971 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:8998971G>A uc022arp.1 - 0 191 c.191C>T c.(190-192)tCc>tTc p.S64F PPP1R3B_uc003wsn.4_Missense_Mutation_p.S64F|PPP1R3B_uc003wso.4_Missense_Mutation_p.S64F NM_024607 NP_078883 Q86XI6 PPR3B_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA. 64 glycogen metabolic process endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) GTCTGCGAAGGACACCCGCTT 0.537000 92 10 0 0 1 0 0 MYO1A 4640 broad.mit.edu 37 12 57423538 57423538 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:57423538G>A uc001smw.4 - 24 2950 c.2710C>T c.(2710-2712)Cgt>Tgt p.R904C MYO1A_uc010sqz.2_Missense_Mutation_p.R742C|MYO1A_uc009zpd.3_Missense_Mutation_p.R904C NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA. 904 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 CCATTGCCACGATTGACCTTC 0.597000 213 12 0 0 1 0 0 MAP9 79884 broad.mit.edu 37 4 156294426 156294426 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:156294426C>T uc003ios.3 - 3 607 c.343G>A c.(343-345)Gaa>Aaa p.E115K MAP9_uc011cin.2_Missense_Mutation_p.E115K|MAP9_uc010iqa.1_Non-coding_Transcript|MAP9_uc003iot.1_Missense_Mutation_p.E115K|MAP9_uc010iqb.2_Missense_Mutation_p.E43K NM_001039580 NP_001034669 Q49MG5 MAP9_HUMAN Homo sapiens microtubule-associated protein 9 (MAP9), mRNA. 115 cell division|mitosis cytoplasm|microtubule|spindle NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) GGTGCCATTTCCTCTTCATTT 0.328000 106 9 0 0 1 0 0 ORAI1 84876 broad.mit.edu 37 12 122079402 122079402 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:122079402C>T uc021rff.1 + 1 958 c.765C>T c.(763-765)ttC>ttT p.F255F NM_032790 NP_116179 Q96D31 CRCM1_HUMAN Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA. 253 V -> F (in Ref. 2; BAB55068). 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) TTATCGTCTTCGCCGTCCACT 0.612000 83 11 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117232347 117232347 + Missense_Mutation SNP G A A rs35722447 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:117232347G>A uc003vjd.3 + 13 2258 c.2126G>A c.(2125-2127)cGa>cAa p.R709Q CFTR_uc011knq.2_Missense_Mutation_p.R115Q NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 709 respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AACTCTATACGAAAATTTTCC 0.383000 Cystic Fibrosis 61 8 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31319920 31319920 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:31319920C>T uc010dmg.1 + 10 2607 c.2552C>T c.(2551-2553)tCa>tTa p.S851L ASXL3_uc002kxq.2_Missense_Mutation_p.S558L NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 851 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TACCCTGCTTCAATTCCAGAA 0.388000 26 6 0 0 1 0 0 PODNL1 79883 broad.mit.edu 37 19 14046553 14046553 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:14046553C>T uc002mxr.3 - 4 770 c.496G>A c.(496-498)Ggg>Agg p.G166R PODNL1_uc010xni.2_Missense_Mutation_p.G84R|PODNL1_uc010xnj.2_Missense_Mutation_p.G164R|PODNL1_uc002mxs.3_Intron NM_024825 NP_079101 Q6PEZ8 PONL1_HUMAN Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA. 166 Leu-rich. proteinaceous extracellular matrix central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(19;5.26e-23) GGCTTCTCCCCAAAGGTGAGG 0.622000 23 3 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124361486 124361486 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:124361486G>A uc001lgk.1 + 28 3623 c.3517G>A c.(3517-3519)Gga>Aga p.G1173R DMBT1_uc001lgl.1_Missense_Mutation_p.G1163R|DMBT1_uc001lgm.1_Missense_Mutation_p.G674R|DMBT1_uc021qaf.1_Missense_Mutation_p.G1173R|DMBT1_uc021qag.1_Missense_Mutation_p.G1163R|DMBT1_uc021qah.1_Missense_Mutation_p.G674R|DMBT1_uc009xzz.1_Missense_Mutation_p.G1173R|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Intron NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1173 SRCR 9. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GTCAGCCCCAGGAAATGCCCG 0.602000 362 25 0 0 1 0 0 GSTM3 2947 broad.mit.edu 37 1 110280189 110280189 + Splice_Site SNP G C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:110280189G>C uc001dyo.2 - 8 779 c.469_splice c.e8-1 p.L157_splice GSTM3_uc001dyp.2_Splice_Site_p.L154_splice|GSTM3_uc010ovv.2_Splice_Site_p.L157_splice NM_000849 NP_000840 P21266 GSTM3_HUMAN Homo sapiens glutathione S-transferase mu 3 (brain) (GSTM3), transcript variant 1, mRNA. 157 GST C-terminal. establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus cytoplasm glutathione transferase activity|identical protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1) 9 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) ACAAAGGTGAGCTAGAAGAAA 0.448000 65 8 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 208322 208322 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:208322G>A uc001qhw.2 + 1 565 c.565G>A c.(565-567)Gtg>Atg p.V189M IQSEC3_uc001qhu.1_5'UTR NM_001170738 NP_001164209 Q9UPP2 IQEC3_HUMAN Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA. 189 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GAATGAGACCGTGCTGCACCA 0.637000 37 4 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19554712 19554712 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:19554712C>T uc003cbk.1 + 12 2525 c.2330C>T c.(2329-2331)aCc>aTc p.T777I KCNH8_uc010hex.1_Missense_Mutation_p.T238I NM_144633 NP_653234 Q96L42 KCNH8_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA. 777 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 TCCCCCAAAACCAAGCAGGAA 0.468000 48 4 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12157500 12157500 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:12157500T>A uc021upl.1 - 1 245 c.79A>T c.(79-81)Aat>Tat p.N27Y ZNF878_uc002mta.1_Missense_Mutation_p.N74Y NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN Homo sapiens zinc finger protein 878 (ZNF878), mRNA. 27 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 CTGTAGAGATTTTTCTGGGAA 0.473000 159 8 0 0 1 0 0 GALNTL4 374378 broad.mit.edu 37 11 11400800 11400800 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:11400800C>T uc001mjo.2 - 3 1028 c.607G>A c.(607-609)Gag>Aag p.E203K NM_198516 NP_940918 Q6P9A2 GLTL4_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA. 203 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 all cancers(16;3.67e-05)|Epithelial(150;0.000184) GTCAGCTTCTCCTTCAGTTCC 0.542000 64 8 0 0 1 0 0 DUSP16 80824 broad.mit.edu 37 12 12633225 12633225 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:12633225G>A uc001rao.2 - 5 1510 c.747C>T c.(745-747)tcC>tcT p.S249S DUSP16_uc001ran.2_Silent_p.S101S NM_030640 NP_085143 Q9BY84 DUS16_HUMAN Homo sapiens dual specificity phosphatase 16 (DUSP16), mRNA. 249 Tyrosine-protein phosphatase. MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive|inactivation of MAPK activity cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3) 26 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) TGGCGGAGCGGGAGATCCCAG 0.448000 122 12 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60485640 60485640 + Missense_Mutation SNP G A A rs139577432 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:60485640G>A uc002ybn.2 + 8 1439 c.1351G>A c.(1351-1353)Gag>Aag p.E451K CDH4_uc002ybr.2_Missense_Mutation_p.E414K|CDH4_uc002ybp.2_Missense_Mutation_p.E377K NM_001794 NP_001785 P55283 CADH4_HUMAN Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA. 451 Cadherin 3. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CGTAACCAACGAGGGCATGGT 0.592000 84 10 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94953647 94953647 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:94953647C>T uc001ydj.3 - 5 2034 c.1238G>A c.(1237-1239)gGa>gAa p.G413E NM_173850 NP_776249 Q8IW75 SPA12_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA. 413 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) CCTTTATTTTCCAATAGGGTT 0.458000 122 16 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34014343 34014343 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:34014343G>A uc011kap.2 + 6 897 c.523G>A c.(523-525)Gaa>Aaa p.E175K NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN Homo sapiens BMP binding endothelial regulator (BMPER), mRNA. 175 VWFC 3. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GCAGTATCAAGAAGGGGAGGA 0.483000 140 15 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43067835 43067835 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:43067835G>A uc001zqo.2 - 12 1935 c.1496C>T c.(1495-1497)tCc>tTc p.S499F TTBK2_uc010bcy.2_Missense_Mutation_p.S430F NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA. 499 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) GTCAGTACGGGACACAGCAGG 0.507000 119 5 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63175041 63175041 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:63175041C>T uc001xfx.3 - 10 2203 c.2152G>A c.(2152-2154)Gag>Aag p.E718K KCNH5_uc001xfy.3_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 718 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTCCGCAGCTCCTTCTGCTGC 0.577000 118 6 0 0 1 0 0 CDC73 79577 broad.mit.edu 37 1 193218892 193218892 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:193218892C>T uc001gtb.3 + 15 1693 c.1450C>T c.(1450-1452)Cgt>Tgt p.R484C NM_024529 NP_078805 Q6P1J9 CDC73_HUMAN Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA. 484 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding p.R484L(1) breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1) 87 TGATGAAGTTCGTCTGGATCC 0.338000 45 3 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34102739 34102739 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:34102739C>T uc001zhi.3 + 70 10156 c.10086C>T c.(10084-10086)atC>atT p.I3362I RYR3_uc010bar.3_Silent_p.I3357I NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 3362 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.S3361S(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGTATTCCATCCAGACCTCCC 0.512000 44 4 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15794487 15794487 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:15794487C>T uc002nbl.3 + 6 951 c.832C>T c.(832-834)Ctc>Ttc p.L278F NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GCGTCGCACCCTCCCCACTCA 0.527000 104 14 0 0 1 0 0 FAM129A 116496 broad.mit.edu 37 1 184764950 184764950 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:184764950C>T uc001gra.3 - 13 2142 c.1948G>A c.(1948-1950)Gat>Aat p.D650N FAM129A_uc001grb.1_Intron NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA. 650 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 TCAGTCCCATCTGGGGGTGGG 0.562000 78 9 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108603974 108603974 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:108603974G>A uc001tms.3 + 3 1318 c.574G>A c.(574-576)Gag>Aag p.E192K WSCD2_uc001tmt.3_Missense_Mutation_p.E192K NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN Homo sapiens WSC domain containing 2 (WSCD2), mRNA. 192 WSC 1. integral to membrane p.E192K(2) breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 GAACGTGAGCGAGGCAGAGTG 0.677000 54 8 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804462 27804462 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:27804462C>T uc002rkz.4 + 0 5074 c.5023C>T c.(5023-5025)Cag>Tag p.Q1675* ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA. 1675 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. p.S1674F(1) breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CAGTCCCTCCCAGAGGAGCCA 0.572000 274 17 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101052308 101052308 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:101052308G>A uc003yjb.1 - 12 2141 c.1946C>T c.(1945-1947)aCc>aTc p.T649I RGS22_uc003yja.1_Missense_Mutation_p.T468I|RGS22_uc003yjc.1_Missense_Mutation_p.T637I|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.T553I|RGS22_uc022azf.1_Missense_Mutation_p.T38I NM_015668 NP_056483 Q8NE09 RGS22_HUMAN Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA. 649 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ATCTGACACGGTTTTAACCTA 0.348000 31 4 0 0 1 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51631717 51631718 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:51631717_51631718GG>AA uc010yct.2 + 5 1248_1249 c.1153_1154GG>AA c.(1153-1155)gga>AAa p.G385K SIGLEC9_uc002pvu.3_Missense_Mutation_p.G385K NM_001198558 NP_001185487 Q9Y336 SIGL9_HUMAN Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA. 385 cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) AGCGGGCGTGGGAGATACGGGC 0.589000 130 14 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117914303 117914303 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:117914303G>A uc001two.2 - 16 2516 c.2461C>T c.(2461-2463)Ccc>Tcc p.P821S NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 850 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTGGAGAAGGGGAGCTTATCC 0.602000 12 4 0 0 1 0 0 SSR4 6748 broad.mit.edu 37 X 153062007 153062007 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:153062007G>A uc004fiv.3 + 3 337 c.219_splice c.e3+1 p.Q73_splice IDH3G_uc004fip.3_5'Flank|IDH3G_uc004fiq.3_5'Flank|IDH3G_uc004fit.1_5'Flank|SSR4_uc022chw.1_Splice_Site_p.Q70_splice|SSR4_uc022chx.1_Splice_Site|SSR4_uc004fiw.3_Splice_Site_p.Q62_splice NM_001204526 NP_001191455 P51571 SSRD_HUMAN Homo sapiens signal sequence receptor, delta (SSR4), transcript variant 1, mRNA. 62 intracellular protein transport Sec61 translocon complex|integral to membrane calcium ion binding|protein binding central_nervous_system(1)|endometrium(1)|lung(2) 4 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) ACAGGGTCCAGGTGAGACAGT 0.547000 89 27 0 0 1 0 0 STC2 8614 broad.mit.edu 37 5 172745135 172745135 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:172745135C>T uc003mco.1 - 3 1934 c.624G>A c.(622-624)ttG>ttA p.L208L STC2_uc003mcn.1_Silent_p.L123L NM_003714 NP_003705 O76061 STC2_HUMAN Homo sapiens stanniocalcin 2 (STC2), mRNA. 208 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity p.I207T(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TGCAGAAGCTCAAGATGGAGC 0.642000 33 3 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73961673 73961673 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:73961673C>T uc004eby.3 - 2 3336 c.2719G>A c.(2719-2721)Gag>Aag p.E907K NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 907 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GGGGCTATCTCCCTTGAGACT 0.443000 12 3 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121100282 121100282 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:121100282C>T uc003eec.4 + 22 2702 c.2562C>T c.(2560-2562)ttC>ttT p.F854F STXBP5L_uc011bji.2_Silent_p.F830F NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 854 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CTTGTCTGTTCGTTGGAACCA 0.413000 169 16 0 0 1 0 0 NPPB 4879 broad.mit.edu 37 1 11918410 11918410 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:11918410G>A uc001atj.3 - 1 351 c.249C>T c.(247-249)gcC>gcT p.A83A NM_002521 NP_002512 P16860 ANFB_HUMAN Homo sapiens natriuretic peptide B (NPPB), mRNA. 83 body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation extracellular space diuretic hormone activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624) TGCCCTCGGTGGCTACCTCCC 0.642000 68 4 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70573452 70573452 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:70573452G>A uc001dep.3 + 23 4479 c.4449G>A c.(4447-4449)agG>agA p.R1483R LRRC7_uc009wbg.3_Silent_p.R767R|LRRC7_uc001deq.3_Silent_p.R677R NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA. 1483 PDZ. centrosome|focal adhesion|nucleolus protein binding p.T1482S(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TTGTTACTAGGGTTCAGCCTG 0.408000 100 7 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176993860 176993860 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:176993860G>A uc001glc.3 - 5 1341 c.1129C>T c.(1129-1131)Ccc>Tcc p.P377S ASTN1_uc001glb.1_Missense_Mutation_p.P377S|ASTN1_uc001gld.1_Missense_Mutation_p.P377S|ASTN1_uc009wwx.1_Missense_Mutation_p.P377S|ASTN1_uc001gle.4_Non-coding_Transcript NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 377 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GGACTTCGGGGAGAACCCACT 0.498000 43 3 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68181170 68181170 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:68181170C>T uc001ont.3 + 11 2592 c.2517C>T c.(2515-2517)gtC>gtT p.V839V LRP5_uc009ysg.3_Silent_p.V249V NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 839 Beta-propeller 3. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity p.R838W(1) autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AGGAGCGGGTCGTGATTGCCG 0.612000 114 8 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3019773 3019773 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:3019773G>A uc022aqr.1 - 37 6142 c.5752C>T c.(5752-5754)Cca>Tca p.P1918S CSMD1_uc011kwj.2_Missense_Mutation_p.P1311S|CSMD1_uc003wqe.3_Missense_Mutation_p.P1075S|CSMD1_uc010lrg.3_5'UTR NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1919 Sushi 11. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGGAGGGCTGGTTCTTGGCAT 0.448000 19 3 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 52912969 52912969 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:52912969G>A uc001jjm.3 + 1 540 c.312G>A c.(310-312)atG>atA p.M104I PRKG1_uc001jjn.2_Missense_Mutation_p.M119I|PRKG1_uc001jjo.3_Missense_Mutation_p.M119I|PRKG1_uc010qhp.2_Missense_Mutation_p.M104I NM_001098512 NP_001091982 Q13976 KGP1_HUMAN Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA. 104 actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) ATGACTTTATGAAGAACTTGG 0.448000 71 6 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717256 142717256 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:142717256C>T uc022cfm.1 - 0 1669 c.1669G>A c.(1669-1671)Gaa>Aaa p.E557K SLITRK4_uc022cfl.1_Missense_Mutation_p.E557K|SLITRK4_uc004fbx.3_Missense_Mutation_p.E557K|SLITRK4_uc004fby.3_Missense_Mutation_p.E557K NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA. 557 LRRCT 2. integral to membrane p.E557*(2) autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) CATTTCAGTTCTTTCACAACA 0.448000 62 14 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538365 55538365 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:55538365A>G uc003xsd.1 + 3 2071 c.1923A>G c.(1921-1923)agA>agG p.R641R RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 641 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TCACTGCAAGAATTGACAGAC 0.353000 39 5 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 147902871 147902871 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:147902871T>C uc021yfj.1 - 3 439 c.392A>G c.(391-393)aAc>aGc p.N131S HTR4_uc021yfg.1_Missense_Mutation_p.N131S|HTR4_uc021yfh.1_Missense_Mutation_p.N131S|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Missense_Mutation_p.N131S|HTR4_uc011dby.1_Missense_Mutation_p.N131S|HTR4_uc003lpn.3_Missense_Mutation_p.N131S|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Missense_Mutation_p.N131S NM_001040173 NP_001035263 Q13639 5HT4R_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA. 131 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) GGTCATCTTGTTCCTATAGAC 0.498000 23 4 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28326952 28326952 + Silent SNP G A A rs138611712 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:28326952G>A uc001zbh.4 - 1 179 c.69C>T c.(67-69)tcC>tcT p.S23S OCA2_uc010ayv.3_Silent_p.S23S NM_000275 NP_000266 Q04671 P_HUMAN Homo sapiens oculocutaneous albinism II (OCA2), mRNA. 23 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CGCTGGGCACGGACGTCTGCA 0.711000 Oculocutaneous Albinism 30 3 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45717523 45717523 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:45717523C>T uc003tne.4 + 8 1679 c.1661C>T c.(1660-1662)aCc>aTc p.T554I NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 554 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) TCTTTTTCTACCAACGTTGTC 0.512000 120 8 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113316994 113316994 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:113316994G>A uc003ynu.3 - 51 8381 c.8222C>T c.(8221-8223)cCt>cTt p.P2741L CSMD3_uc003yns.3_Missense_Mutation_p.P1943L|CSMD3_uc003ynt.3_Missense_Mutation_p.P2701L|CSMD3_uc011lhx.2_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 2741 Sushi 16. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGTACCATTAGGAAGACATTC 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 81 8 0 0 1 0 0 C14orf166B 145497 broad.mit.edu 37 14 77327087 77327087 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:77327087G>A uc001xsx.2 + 10 1270 c.1156G>A c.(1156-1158)Gtt>Att p.V386I C14orf166B_uc010asn.1_Missense_Mutation_p.V146I|C14orf166B_uc001xsw.2_Non-coding_Transcript NM_194287 NP_919263 Q0VAA2 CN16B_HUMAN Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA. 386 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) AGTGTATGCCGTTCACCCGCA 0.532000 100 9 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161016404 161016404 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:161016404C>T uc003qtl.3 - 21 3571 c.3451G>A c.(3451-3453)Gag>Aag p.E1151K NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 3659 Kringle 10. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GAAGAAGCCTCTGTGCTTGGA 0.493000 99 9 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9049005 9049005 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9049005C>T uc002mkp.3 - 4 32830 c.32626G>A c.(32626-32628)Gga>Aga p.G10876R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10878 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTCACTACTCCTGGTACCTCA 0.468000 70 15 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 107049075 107049075 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:107049075C>T uc021ser.1 - 168 c.7052_splice c.e168+1 Parts of antibodies, mostly variable regions. CATGAATCACCTTTTAAAATA 0.443000 193 27 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141571369 141571369 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:141571369G>A uc002tvj.1 - 31 6188 c.5216C>T c.(5215-5217)tCg>tTg p.S1739L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 1739 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATAGTCTATCGATAGACCTGT 0.343000 TSP Lung(27;0.18) 38 3 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31312028 31312028 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:31312028G>A uc010dmg.1 + 9 1031 c.976_splice c.e9+1 p.G326_splice ASXL3_uc002kxq.2_Splice_Site_p.G33_splice NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 326 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ACTGGCAGAAGGTAAATTTGT 0.393000 71 5 0 0 1 0 0 CRLF1 9244 broad.mit.edu 37 19 18710616 18710616 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:18710616G>A uc010ebt.2 - 1 350 c.156C>T c.(154-156)atC>atT p.I52I NM_004750 NP_004741 O75462 CRLF1_HUMAN Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA. 52 Ig-like C2-type. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 9 GGGAGGAGCCGATGAGAAGCG 0.672000 12 6 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149515026 149515026 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:149515026G>A uc010lpk.3 + 79 11407 c.11407G>A c.(11407-11409)Gac>Aac p.D3803N NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 3806 cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTCCCTGGACGACTGCTTCGA 0.692000 103 11 0 0 1 0 0 ZAP70 7535 broad.mit.edu 37 2 98351858 98351858 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:98351858C>T uc002syd.1 + 9 1435 c.1228C>T c.(1228-1230)Ctc>Ttc p.L410F ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.L300F|ZAP70_uc002syf.1_Missense_Mutation_p.L103F NM_001079 NP_997402 P43403 ZAP70_HUMAN Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA. 410 Protein kinase. T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection T cell receptor complex|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 GGCCGAGGCCCTCATGCTGGT 0.667000 217 10 0 0 1 0 0 CROT 54677 broad.mit.edu 37 7 87005030 87005030 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:87005030C>T uc003uiu.3 + 8 1068 c.823C>T c.(823-825)Cga>Tga p.R275* CROT_uc003uit.3_Nonsense_Mutation_p.R247* NM_001143935 NP_001137407 Q9UKG9 OCTC_HUMAN Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA. 247 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) GGAGCGAACTCGATGGGCTAA 0.373000 81 6 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29420510 29420510 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:29420510G>A uc002rmy.3 - 26 4923 c.3971C>T c.(3970-3972)tCt>tTt p.S1324F ALK_uc010ymo.2_Missense_Mutation_p.S256F NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 1324 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) ATATCCAAGAGAAAAGATTTC 0.527000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 95 7 0 0 1 0 0 C5orf64 285668 broad.mit.edu 37 5 60982870 60982870 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:60982870G>A uc003jst.1 + 2 273 c.198G>A c.(196-198)tcG>tcA p.S66S BC043229_uc003jsu.1_Intron|BC043229_uc010iwo.2_Intron|BC043229_uc003jsv.3_Intron NM_173667 NP_775938 Q2M2E5 CE064_HUMAN Homo sapiens chromosome 5 open reading frame 64 (C5orf64), mRNA. 66 extracellular region breast(1) 1 CAATCAAATCGAGATCACATC 0.418000 64 4 0 0 1 0 0 CRISP2 7180 broad.mit.edu 37 6 49676846 49676846 + Nonsense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:49676846T>A uc003ozn.2 - 3 300 c.64A>T c.(64-66)Aag>Tag p.K22* CRISP2_uc003ozr.2_Nonsense_Mutation_p.K22*|CRISP2_uc003ozo.2_Nonsense_Mutation_p.K22*|CRISP2_uc003ozm.2_Nonsense_Mutation_p.K22*|CRISP2_uc003ozp.2_Nonsense_Mutation_p.K22*|CRISP2_uc003ozq.2_Nonsense_Mutation_p.K22*|CRISP2_uc003ozl.2_Nonsense_Mutation_p.K22* NM_001142417 NP_003287 P16562 CRIS2_HUMAN Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA. 22 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) AACCTTACCTTTCCTTCTGCA 0.413000 63 8 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651513 84651513 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:84651513C>T uc002bjz.4 + 20 3357 c.3133C>T c.(3133-3135)Ctg>Ttg p.L1045L ADAMTSL3_uc010bmt.1_Silent_p.L1045L NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 1045 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TGACCTTTATCTGGATGATGA 0.448000 73 5 0 0 1 0 0 IL11RA 3590 broad.mit.edu 37 9 34660508 34660508 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:34660508G>A uc003zvi.3 + 10 2436 c.1080G>A c.(1078-1080)agG>agA p.R360R IL11RA_uc011loq.2_Silent_p.R360R|IL11RA_uc003zvj.3_Silent_p.R360R|IL11RA_uc003zvk.3_Silent_p.R360R|IL11RA_uc010mke.3_Silent_p.R242R NM_004512 NP_004503 Q14626 I11RA_HUMAN Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA. 360 integral to plasma membrane cytokine receptor activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.174) Oprelvekin(DB00038) CAGATCACAGGGACTCTGTGG 0.577000 45 4 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7559373 7559373 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:7559373C>T uc010sge.2 - 4 898 c.872G>A c.(871-873)gGa>gAa p.G291E CD163L1_uc001qsy.3_Missense_Mutation_p.G281E NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 281 SRCR 3. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CCCCCACCTTCCTTGGATTTT 0.478000 80 5 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105162876 105162876 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:105162876C>T uc001kwy.1 + 4 322 c.235_splice c.e4-1 p.S79_splice NM_014976 NP_055791 Q14690 RRP5_HUMAN Homo sapiens programmed cell death 11 (PDCD11), mRNA. 79 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CTCTTCTAGTCCCTGTGTGAG 0.448000 179 15 0 0 1 0 0 OAS3 4940 broad.mit.edu 37 12 113405798 113405798 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:113405798C>T uc001tug.3 + 13 3010 c.2923C>T c.(2923-2925)Ctg>Ttg p.L975L NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA. 975 OAS domain 3. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|RNA binding|nucleotidyltransferase activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 GCTGGAACTCCTGACTGTGTA 0.582000 67 5 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43607032 43607032 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:43607032G>A uc003bdt.2 - 17 2406 c.2279C>T c.(2278-2280)cCc>cTc p.P760L NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA. 760 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) GGTGCCGACGGGGCAGCGGAT 0.652000 71 5 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126173531 126173531 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:126173531G>A uc003vlr.2 - 7 2216 c.1905C>T c.(1903-1905)atC>atT p.I635I GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.I635I|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 635 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TTAAAAACGTGATTGAATAAC 0.468000 HNSCC(24;0.065) 45 4 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248262875 248262875 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:248262875C>T uc001ids.3 + 2 535 c.198C>T c.(196-198)tcC>tcT p.S66S OR2L13_uc021pmc.1_Silent_p.S66S NM_175911 NP_787107 Q8N349 OR2LD_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA. 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 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;0.0132) GCCAGCTCTCCCTTATGGACC 0.537000 172 5 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033046 52033046 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:52033046C>T uc002pwy.3 - 4 1152 c.944G>A c.(943-945)gGa>gAa p.G315E SIGLEC6_uc002pwz.3_Missense_Mutation_p.G299E|SIGLEC6_uc010ydb.2_Missense_Mutation_p.G263E|SIGLEC6_uc010ydc.2_Missense_Mutation_p.G326E|SIGLEC6_uc002pxa.3_Missense_Mutation_p.G315E|SIGLEC6_uc010eoz.2_Missense_Mutation_p.G304E|SIGLEC6_uc010epa.2_Missense_Mutation_p.G304E|SIGLEC6_uc010epb.2_Missense_Mutation_p.G268E NM_001245 NP_001236 O43699 SIGL6_HUMAN Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA. 315 Ig-like C2-type 2. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GGTGAAATCTCCTTCTTCTGC 0.602000 47 6 0 0 1 0 0 CRNKL1 51340 broad.mit.edu 37 20 20033087 20033087 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:20033087G>A uc002wrs.3 - 1 415 c.383C>T c.(382-384)tCc>tTc p.S128F C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.S116F NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA. 128 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 AAACAAACAGGATCTCGGAAC 0.587000 79 20 0 0 1 0 0 KRT18 3875 broad.mit.edu 37 12 53345370 53345370 + Missense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:53345370C>A uc001sbe.3 + 4 832 c.763C>A c.(763-765)Caa>Aaa p.Q255K KRT18_uc009zmn.2_Missense_Mutation_p.Q255K|KRT18_uc001sbg.3_Missense_Mutation_p.Q255K|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank NM_199187 NP_954657 P05783 K1C18_HUMAN Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA. 255 Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod. Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity p.A254A(1) central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 11 CATCCGGGCCCAATATGACGA 0.587000 52 3 1 1 1 1 0 HRASLS5 117245 broad.mit.edu 37 11 63233701 63233701 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:63233701C>T uc001nwy.2 - 4 802 c.628G>A c.(628-630)Gac>Aac p.D210N HRASLS5_uc001nwz.2_Missense_Mutation_p.D200N|HRASLS5_uc010rmq.1_Missense_Mutation_p.D210N|HRASLS5_uc009yos.2_Non-coding_Transcript NM_054108 NP_473449 Q96KN8 HRSL5_HUMAN Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA. 210 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 ATGATCTTGTCCACCGGCAAG 0.512000 65 7 0 0 1 0 0 PPP4R1 9989 broad.mit.edu 37 18 9588787 9588787 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:9588787G>A uc002koe.1 - 4 478 c.360C>T c.(358-360)aaC>aaT p.N120N PPP4R1_uc010wzo.1_Silent_p.N77N|PPP4R1_uc002kod.1_Silent_p.N103N|PPP4R1_uc010wzp.1_Non-coding_Transcript NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA. 120 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 TTGAAGGCCGGTTTTCTTGAC 0.393000 66 6 0 0 1 0 0 WDR52 55779 broad.mit.edu 37 3 113114708 113114708 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:113114708C>T uc003ead.2 - 15 1847 c.1780_splice c.e15-1 p.S594_splice WDR52_uc003eae.2_Splice_Site_p.S594_splice NM_001164496 NP_001157968 Q96MT7 WDR52_HUMAN Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA. 594 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 GATCTTTACTCTAAGGAAAAA 0.343000 32 3 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17778931 17778931 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:17778931C>T uc021uqk.1 - 5 505 c.463G>A c.(463-465)Gat>Aat p.D155N NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA. 155 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CTCACTTCATCCTGGTCCCGC 0.522000 48 4 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350389 100350389 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:100350389C>T uc003uwj.3 + 13 2826 c.2661C>T c.(2659-2661)atC>atT p.I887I ZAN_uc003uwk.3_Silent_p.I887I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 887 66 X heptapeptide repeats (approximate) (mucin-like domain). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane 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) AACCCACCATCCCCATTGAAG 0.502000 138 18 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152325417 152325417 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:152325417C>T uc001ezw.4 - 2 4918 c.4845G>A c.(4843-4845)gaG>gaA p.E1615E AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 1615 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCGTGTCTCTCATGAACTG 0.522000 225 11 0 0 1 0 0 ROCK2 9475 broad.mit.edu 37 2 11376073 11376073 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:11376073G>A uc002rbd.1 - 4 927 c.478C>T c.(478-480)Caa>Taa p.Q160* NM_004850 NP_004841 O75116 ROCK2_HUMAN Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA. 160 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) CTATCATCTTGAAAGGCATAA 0.308000 47 6 0 0 1 0 0 NDUFB5 4711 broad.mit.edu 37 3 179341758 179341758 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:179341758C>T uc003fkc.3 + 5 529 c.500C>T c.(499-501)cCc>cTc p.P167L NDUFB5_uc021xhu.1_Silent_p.T131T|NDUFB5_uc003fke.3_Missense_Mutation_p.P115L|NDUFB5_uc003fkd.3_Non-coding_Transcript NM_002492 NP_002483 O43674 NDUB5_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa (NDUFB5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 167 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|lung(6)|skin(1) 8 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) NADH(DB00157) GGAGATGGACCCTGGTATTAC 0.368000 121 9 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7691234 7691234 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:7691234C>T uc002giu.1 + 41 6674 c.6660C>T c.(6658-6660)tcC>tcT p.S2220S NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 2220 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCACTGTATCCCGCTGCGGGA 0.532000 49 6 0 0 1 0 0 OSCAR 126014 broad.mit.edu 37 19 54600332 54600332 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:54600332G>A uc002qdd.3 - 3 382 c.265C>T c.(265-267)Ctt>Ttt p.L89F OSCAR_uc002qcy.3_Missense_Mutation_p.L68F|OSCAR_uc002qcz.3_Missense_Mutation_p.L64F|OSCAR_uc002qda.3_Missense_Mutation_p.L68F|OSCAR_uc002qdb.3_Missense_Mutation_p.L53F|OSCAR_uc010erc.3_Missense_Mutation_p.T31I|OSCAR_uc002qdc.3_Missense_Mutation_p.L78F|OSCAR_uc021vbh.1_5'Flank NM_206818 NP_996554 Q8IYS5 OSCAR_HUMAN Homo sapiens osteoclast associated, immunoglobulin-like receptor (OSCAR), transcript variant 1, mRNA. 64 Ig-like 1. extracellular region|integral to membrane|plasma membrane receptor activity large_intestine(1)|skin(1) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GGCTTGAAAAGTCCAAATCTC 0.592000 138 12 0 0 1 0 0 CREB5 9586 broad.mit.edu 37 7 28857758 28857758 + Missense_Mutation SNP C T T rs78786238 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:28857758C>T uc003szq.3 + 9 1715 c.1325C>T c.(1324-1326)cCa>cTa p.P442L CREB5_uc003szo.3_Missense_Mutation_p.P409L|CREB5_uc003szr.3_Missense_Mutation_p.P435L|CREB5_uc003szs.3_Missense_Mutation_p.P303L NM_182898 NP_878902 Q02930 CREB5_HUMAN Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA. 442 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 AAAGACTGCCCAATAACAGCC 0.363000 97 13 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86041443 86041443 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:86041443C>T uc003ycw.3 + 9 1663 c.1455C>T c.(1453-1455)tcC>tcT p.S485S LRRCC1_uc010lzz.2_Intron|LRRCC1_uc022awx.1_Silent_p.S392S|LRRCC1_uc010maa.2_Silent_p.S186S|LRRCC1_uc003ycy.3_Silent_p.S465S NM_033402 NP_208325 Q9C099 LRCC1_HUMAN Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA. 485 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 AGAGAAATTCCAAAGGACAAC 0.294000 155 9 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31323023 31323023 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:31323023G>A uc003jhe.2 + 11 2341 c.1981G>A c.(1981-1983)Gac>Aac p.D661N NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 661 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.D661N(2) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CAGTTACAACGACGAAGGTGG 0.488000 61 5 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154197700 154197700 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:154197700C>T uc004fmt.3 - 6 1086 c.915G>A c.(913-915)ttG>ttA p.L305L NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 305 F5/8 type A 1.|Plastocyanin-like 2. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GCGAGATTTCCAAGGACGCCT 0.448000 63 8 0 0 1 0 0 BRPF1 7862 broad.mit.edu 37 3 9784840 9784840 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:9784840C>T uc003bse.3 + 6 2595 c.2196C>T c.(2194-2196)gcC>gcT p.A732A BRPF1_uc003bsf.3_Silent_p.A738A|BRPF1_uc003bsg.3_Silent_p.A732A|BRPF1_uc011ati.2_Silent_p.A732A NM_004634 NP_004625 P55201 BRPF1_HUMAN Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA. 732 Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) TCCGCCAGGCCCGGCGCCAGG 0.587000 65 6 0 0 1 0 0 GJA4 2701 broad.mit.edu 37 1 35260594 35260594 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:35260594G>A uc009vul.3 + 1 1032 c.1008G>A c.(1006-1008)acG>acA p.T336T GJA4_uc001bya.3_Silent_p.T260T|GJA4_uc009vum.1_Silent_p.T260T|GJA4_uc021olb.1_Silent_p.T260T NM_002060 NP_002051 P35212 CXA4_HUMAN Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA. 260 cell-cell junction assembly integral to plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) ACCCTTACACGGACCAGGTCT 0.652000 30 3 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185902907 185902907 + Silent SNP T A A rs140611904 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:185902907T>A uc001grq.1 + 10 2008 c.1779T>A c.(1777-1779)gtT>gtA p.V593V NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 593 Ig-like C2-type 2. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATTGTATGGTTTCTAGTGAAG 0.433000 100 6 0 0 1 0 0 OR6C2 341416 broad.mit.edu 37 12 55846720 55846720 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:55846720C>T uc001sgz.1 + 0 723 c.723C>T c.(721-723)tcC>tcT p.S241S NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA. 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 CCTGTTCATCCCACATGATTG 0.418000 56 7 0 0 1 0 0 CCNT1 904 broad.mit.edu 37 12 49087125 49087125 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:49087125G>A uc001rsd.4 - 8 2195 c.1872C>T c.(1870-1872)tcC>tcT p.S624S CCNT1_uc009zkz.2_Silent_p.S339S|CCNT1_uc021qxk.1_5'Flank NM_001240 NP_001231 O60563 CCNT1_HUMAN Homo sapiens cyclin T1 (CCNT1), mRNA. 624 Ser-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 GCTGTGAAAAGGAAAGGCCAC 0.488000 54 3 0 0 1 0 0 PAQR3 152559 broad.mit.edu 37 4 79856296 79856296 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:79856296A>G uc003hlp.1 - 1 531 c.327T>C c.(325-327)tcT>tcC p.S109S PAQR3_uc003hlm.3_Non-coding_Transcript|PAQR3_uc003hln.3_Intron|PAQR3_uc003hlq.1_Intron NM_001040202 NP_001035292 Q6TCH7 PAQR3_HUMAN Homo sapiens progestin and adipoQ receptor family member III (PAQR3), mRNA. 109 Golgi membrane|integral to membrane receptor activity breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 8 AAAGACAAATAGAACAAATTA 0.403000 238 24 0 0 1 0 0 SUSD4 55061 broad.mit.edu 37 1 223401022 223401022 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:223401022G>A uc001hnx.3 - 5 1609 c.975C>T c.(973-975)ttC>ttT p.F325F SUSD4_uc001hny.4_Silent_p.F325F|SUSD4_uc010puw.2_Silent_p.F165F NM_017982 NP_060452 Q5VX71 SUSD4_HUMAN Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA. 325 integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) TGGTTGCCGTGAACGCCACAA 0.587000 42 3 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11572837 11572837 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:11572837C>T uc002gne.3 + 16 3147 c.3079C>T c.(3079-3081)Cag>Tag p.Q1027* DNAH9_uc010coo.3_Nonsense_Mutation_p.Q321* NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 1027 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGTTCTGGGTCAGTTTCTGCT 0.522000 81 8 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28260126 28260126 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:28260126C>T uc009xky.3 - 7 1151 c.1053G>A c.(1051-1053)ctG>ctA p.L351L ARMC4_uc010qds.2_Intron|ARMC4_uc010qdt.2_Silent_p.L43L|ARMC4_uc001itz.3_Silent_p.L351L|ARMC4_uc010qdu.1_Silent_p.L43L NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 351 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GGTTCTTCTCCAGTGACCTTT 0.428000 58 3 0 0 1 0 0 ITGA2 3673 broad.mit.edu 37 5 52360782 52360782 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:52360782G>A uc003joy.3 + 13 1786 c.1643G>A c.(1642-1644)gGc>gAc p.G548D ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.G472D|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript NM_002203 NP_002194 P17301 ITA2_HUMAN Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA. 548 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) GGCCCCGAGGGCATTGAAAAC 0.398000 74 9 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38739953 38739953 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:38739953C>T uc003ciq.3 - 26 4758 c.4758G>A c.(4756-4758)ctG>ctA p.L1586L NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1586 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCGCTCGGATCAGTCTGAGGA 0.527000 108 6 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232581470 232581470 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:232581470G>A uc001hvg.3 - 8 3316 c.3158C>T c.(3157-3159)cCc>cTc p.P1053L SIPA1L2_uc001hvf.3_Missense_Mutation_p.P127L NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA. 1053 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ATACTCGCAGGGGGTGCCCTC 0.597000 183 9 0 0 1 0 0 CXCR2 3579 broad.mit.edu 37 2 219000424 219000424 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:219000424G>A uc002vgz.2 + 3 1110 c.900G>A c.(898-900)gaG>gaA p.E300E CXCR2_uc002vha.2_Silent_p.E300E|CXCR2_uc002vhb.2_Silent_p.E300E|CXCR2_uc021vwp.1_Silent_p.E300E NM_001168298 NP_001548 P25025 CXCR2_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA. 300 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity p.T299T(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 ATGCCACCGAGATTCTGGGCA 0.567000 83 9 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69666657 69666657 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:69666657G>A uc010kak.3 + 6 1757 c.1481G>A c.(1480-1482)gGa>gAa p.G494E BAI3_uc003pev.4_Missense_Mutation_p.G494E NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 494 TSP type-1 4. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CAATGTGAAGGAACGGGCGAA 0.473000 62 10 0 0 1 0 0 KRT35 3886 broad.mit.edu 37 17 39637282 39637282 + Missense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:39637282C>A uc002hws.3 - 0 111 c.68G>T c.(67-69)gGg>gTg p.G23V NM_002280 NP_002271 Q92764 KRT35_HUMAN Homo sapiens keratin 35 (KRT35), mRNA. 23 Head. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) AGTGGAGCCCCCACTGGCCCC 0.577000 110 10 2.32078e-09 2.34521e-09 1 1 0 SLCO1B3 28234 broad.mit.edu 37 12 21036450 21036450 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:21036450G>A uc010sil.2 + 10 1661 c.1596G>A c.(1594-1596)agG>agA p.R532R SLCO1B3_uc001rek.3_Silent_p.R532R|SLCO1B3_uc001rel.3_Silent_p.R532R|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 532 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) CTTGTACAAGGAAATTTTTCA 0.373000 61 6 0 0 1 0 0 ADC 113451 broad.mit.edu 37 1 33583681 33583681 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:33583681C>T uc009vug.3 + 7 1340 c.1268C>T c.(1267-1269)gCc>gTc p.A423V ADC_uc001bwr.3_Missense_Mutation_p.A403V|ADC_uc001bws.3_Missense_Mutation_p.A403V|ADC_uc009vue.3_Missense_Mutation_p.A403V|ADC_uc001bwt.1_Missense_Mutation_p.A308V|ADC_uc001bwu.3_Missense_Mutation_p.A308V|ADC_uc001bwv.3_Missense_Mutation_p.A308V|ADC_uc001bwx.1_Missense_Mutation_p.A380V NM_052998 NP_443724 Q96A70 ADC_HUMAN Homo sapiens arginine decarboxylase (ADC), mRNA. 403 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) GGGACCCAGGCCTGCCACATC 0.612000 47 7 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33135053 33135053 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:33135053G>A uc003ocx.1 - 56 4392 c.4164C>T c.(4162-4164)ccC>ccT p.P1388P COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.P1302P|COL11A2_uc003ocz.1_Silent_p.P1281P NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 1388 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CAGGACCTGGGGGCCCAGCCT 0.657000 88 6 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114186002 114186002 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:114186002C>T uc003ynu.3 - 3 817 c.658G>A c.(658-660)Gcc>Acc p.A220T CSMD3_uc003ynt.3_Missense_Mutation_p.A180T|CSMD3_uc011lhx.2_Missense_Mutation_p.A220T|CSMD3_uc010mcx.1_Missense_Mutation_p.A220T NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 220 Sushi 1. integral to membrane|plasma membrane p.A220D(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ACTGAATTGGCTATGCAGGTG 0.428000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 94 4 0 0 1 0 0 ZNF502 91392 broad.mit.edu 37 3 44762533 44762533 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:44762533C>T uc011baa.2 + 3 479 c.224C>T c.(223-225)tCa>tTa p.S75L ZNF502_uc003cns.3_Missense_Mutation_p.S75L|ZNF502_uc011bab.2_Missense_Mutation_p.S75L|ZNF502_uc003cnt.3_Missense_Mutation_p.S75L NM_001134440 NP_149987 Q8TBZ5 ZN502_HUMAN Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA. 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) ATTGCTGAATCATGCCTTTTC 0.388000 63 7 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2308916 2308916 + Missense_Mutation SNP C T T rs142429871 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:2308916C>T uc002wfx.4 + 8 1335 c.1238C>T c.(1237-1239)tCc>tTc p.S413F NM_003245 NP_003236 Q08188 TGM3_HUMAN Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA. 413 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) TGGAAGAATTCCGTGAACAGT 0.542000 89 9 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78925574 78925574 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:78925574G>A uc004akc.2 + 28 4148 c.3610G>A c.(3610-3612)Gca>Aca p.A1204T NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 859 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ATTTCTAGGTGCATATCTTCT 0.498000 35 4 0 0 1 0 0 HABP2 3026 broad.mit.edu 37 10 115335667 115335667 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:115335667C>T uc001lai.4 + 3 338 c.235C>T c.(235-237)Ccc>Tcc p.P79S HABP2_uc021pyr.1_Missense_Mutation_p.P53S|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Silent_p.S67S NM_004132 NP_001171131 Q14520 HABP2_HUMAN Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA. 79 EGF-like 1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) TCCATGCCAGCCCAACCCCTG 0.522000 312 13 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248524937 248524937 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:248524937A>T uc001ieh.1 + 0 55 c.55A>T c.(55-57)Atg>Ttg p.M19L NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA. 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTTCATCCTGATGGGACTCTT 0.488000 54 3 0 0 1 0 0 SMAD9 4093 broad.mit.edu 37 13 37427604 37427604 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:37427604G>A uc001uvw.3 - 5 1555 c.1212C>T c.(1210-1212)gtC>gtT p.V404V SMAD9_uc001uvx.3_Silent_p.V367V|SMAD9_uc010tep.2_Silent_p.V197V NM_001127217 NP_001120689 O15198 SMAD9_HUMAN Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA. 404 MH2. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) GTTCATACACGACTTCAAAGC 0.473000 80 5 0 0 1 0 0 SFMBT1 51460 broad.mit.edu 37 3 52941280 52941280 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:52941280G>A uc003dgf.3 - 19 2759 c.2136C>T c.(2134-2136)tcC>tcT p.S712S SFMBT1_uc010hmr.3_Silent_p.S659S|SFMBT1_uc003dgg.3_Silent_p.S712S|SFMBT1_uc003dgh.3_Silent_p.S712S NM_001005159 NP_057413 Q9UHJ3 SMBT1_HUMAN Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA. 712 regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) CTTCACTTAGGGAATCATCAT 0.473000 85 8 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834065 125834065 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:125834065G>A uc001uhe.1 + 1 128 c.120G>A c.(118-120)acG>acA p.T40T TMEM132B_uc021rgl.1_5'UTR NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 40 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) ACCTCCCCACGAACTTGCACA 0.502000 218 21 0 0 1 0 0 DEFA6 1671 broad.mit.edu 37 8 6782392 6782392 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:6782392G>A uc003wqt.3 - 1 292 c.251C>T c.(250-252)tCc>tTc p.S84F NM_001926 NP_001917 Q01524 DEF6_HUMAN Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA. 84 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space lung(4) 4 STAD - Stomach adenocarcinoma(24;0.0322) COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) GGTCCCATAGGAATATTCTGT 0.443000 99 7 0 0 1 0 0 TCIRG1 10312 broad.mit.edu 37 11 67816614 67816614 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:67816614C>T uc001one.3 + 14 1869 c.1740C>T c.(1738-1740)ctC>ctT p.L580L TCIRG1_uc001ong.3_Silent_p.L364L|TCIRG1_uc009ysd.3_5'Flank NM_006019 NP_006044 Q13488 VPP3_HUMAN Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA. 580 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 TGCTGGGACTCTTCGGTTACC 0.627000 146 13 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77862314 77862314 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:77862314G>A uc021rks.1 - 2 843 c.576C>T c.(574-576)ccC>ccT p.P192P MYCBP2_uc010aev.3_5'UTR NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GCTTGATAGGGGGCTCTTTGG 0.408000 156 13 0 0 1 0 0 BDKRB2 624 broad.mit.edu 37 14 96707656 96707656 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:96707656G>A uc010avm.1 + 2 1187 c.991G>A c.(991-993)Gtg>Atg p.V331M BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.V304M|BDKRB2_uc001yfg.2_Missense_Mutation_p.V331M NM_000623 NP_000614 P30411 BKRB2_HUMAN Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA. 331 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) CAACCCACTGGTGTACGTGAT 0.572000 59 14 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62740699 62740699 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:62740699G>A uc001dah.4 - 2 454 c.77C>T c.(76-78)tCt>tTt p.S26F KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA. 26 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 GGTCTCCACAGAATAAGGGTG 0.438000 113 13 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28540176 28540176 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:28540176C>T uc003nlo.3 - 3 4108 c.3490G>A c.(3490-3492)Gaa>Aaa p.E1164K NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 1164 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ttacctacttcattgataatt 0.279000 5 3 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3604312 3604312 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:3604312G>A uc010btn.3 - 8 2609 c.2198C>T c.(2197-2199)aCc>aTc p.T733I NLRC3_uc010bto.1_5'UTR NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA. 733 I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ATCCCTAACGGTGTTGCCCTG 0.592000 37 4 0 0 1 0 0 FOXK1 221937 broad.mit.edu 37 7 4800889 4800889 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:4800889C>T uc003snc.1 + 7 1901 c.1891C>T c.(1891-1893)Ccc>Tcc p.P631S FOXK1_uc003sna.1_Missense_Mutation_p.P468S NM_001037165 NP_001032242 P85037 FOXK1_HUMAN Homo sapiens forkhead box K1 (FOXK1), mRNA. 631 cell differentiation|embryo development|muscle organ 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|magnesium ion 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)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) GCATGCGGTTCCCACGAACAG 0.637000 48 4 0 0 1 0 0 COL13A1 1305 broad.mit.edu 37 10 71654450 71654450 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:71654450G>A uc001jql.3 + 10 1159 c.623G>A c.(622-624)gGa>gAa p.G208E COL13A1_uc021prz.1_Missense_Mutation_p.G208E|COL13A1_uc021psa.1_Missense_Mutation_p.G170E|COL13A1_uc021psb.1_Missense_Mutation_p.G179E|COL13A1_uc001jqk.2_Missense_Mutation_p.G208E|COL13A1_uc021psc.1_Missense_Mutation_p.G208E|COL13A1_uc021psd.1_Missense_Mutation_p.G208E|COL13A1_uc010qjf.2_Missense_Mutation_p.G170E|COL13A1_uc021pse.1_Missense_Mutation_p.G179E|COL13A1_uc021psf.1_Missense_Mutation_p.G208E|COL13A1_uc021psg.1_Missense_Mutation_p.G208E|COL13A1_uc021psh.1_Missense_Mutation_p.G208E NM_001130103 NP_001123575 Q5TAT6 CODA1_HUMAN Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA. 208 Triple-helical region 1 (COL1). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding p.G191E(1)|p.G208E(1) endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) GGACAAAAAGGAGAAAAGGTA 0.463000 99 7 0 0 1 0 0 IL13RA2 3598 broad.mit.edu 37 X 114249075 114249075 + Silent SNP C T T rs143961112 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:114249075C>T uc004epx.3 - 3 434 c.309G>A c.(307-309)gcG>gcA p.A103A IL13RA2_uc010nqd.1_Silent_p.A103A|IL13RA2_uc022cdb.1_Silent_p.A103A NM_000640 NP_000631 Q14627 I13R2_HUMAN Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA. 103 Fibronectin type-III 1. extracellular space|integral to membrane|soluble fraction cytokine receptor activity p.A103V(1) NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 TGTGTATCTTCGCTTCAATGC 0.373000 50 5 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74512931 74512931 + Missense_Mutation SNP C T T rs144161107 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:74512931C>T uc002sko.1 - 2 372 c.370G>A c.(370-372)Gga>Aga p.G124R SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.G124R|SLC4A5_uc010ffc.1_Missense_Mutation_p.G124R|SLC4A5_uc002skp.1_Missense_Mutation_p.G60R|SLC4A5_uc002sks.1_Missense_Mutation_p.G124R NM_021196 NP_067019 Q9BY07 S4A5_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA. 124 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity p.G124R(2) breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 ATCTGGTCTCCGTCATGCTGC 0.622000 50 5 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995048 140995048 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:140995048G>A uc004fbt.3 + 3 2182 c.1858G>A c.(1858-1860)Gaa>Aaa p.E620K MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.E279K NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 620 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCAGGGGGAGGAATTCCAGTC 0.562000 HNSCC(15;0.026) 148 34 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7636081 7636081 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:7636081C>T uc001qsz.3 - 11 3098 c.2970G>A c.(2968-2970)ccG>ccA p.P990P CD163_uc001qta.3_Silent_p.P990P|CD163_uc009zfw.2_Silent_p.P1023P NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 990 SRCR 9. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.P990P(2) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TGAGCCATATCGGTCCAGTCC 0.522000 54 6 0 0 1 0 0 GPS2 2874 broad.mit.edu 37 17 7225034 7225034 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:7225034C>T uc002gga.1 - 17 2951 c.2944G>A c.(2944-2946)Gag>Aag p.E982K GPS2_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|GPS2_uc002ggb.1_Missense_Mutation_p.E980K|GPS2_uc002ggc.1_Missense_Mutation_p.E328K NM_032442 NP_115818 Q13227 GPS2_HUMAN Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA. 0 JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) GGTCCCATCTCCCCCGGTGCT 0.612000 63 4 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508066 37508066 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:37508066G>A uc021ppc.1 + 33 3357 c.3258G>A c.(3256-3258)aaG>aaA p.K1086K ANKRD30A_uc001iza.1_Silent_p.K1086K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 1142 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.K1086M(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TAAAAGAAAAGAATGCTGAAC 0.353000 74 5 0 0 1 0 0 SCAMP3 10067 broad.mit.edu 37 1 155230417 155230417 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:155230417G>A uc001fjs.3 - 2 412 c.178C>T c.(178-180)Cca>Tca p.P60S SCAMP3_uc001fjt.3_Missense_Mutation_p.P34S NM_005698 NP_005689 O14828 SCAM3_HUMAN Homo sapiens secretory carrier membrane protein 3 (SCAMP3), transcript variant 1, mRNA. 60 post-Golgi vesicle-mediated transport|protein transport integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1) 19 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGAGGCAATGGGGCAGGGGCT 0.537000 105 9 0 0 1 0 0 TAL1 6886 broad.mit.edu 37 1 47685586 47685586 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:47685586C>T uc001cqx.2 - 3 1379 c.802G>A c.(802-804)Gga>Aga p.G268R TAL1_uc009vyq.2_Silent_p.V24V|TAL1_uc001cqy.2_Missense_Mutation_p.G268R NM_003189 NP_003180 P17542 TAL1_HUMAN Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA. 268 Poly-Gly. basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 cccccacctccacccccaccA 0.672000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 26 5 0 0 1 0 0 STXBP3 6814 broad.mit.edu 37 1 109321928 109321928 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:109321928C>T uc001dvy.3 + 8 780 c.705C>T c.(703-705)ctC>ctT p.L235L NM_007269 NP_009200 O00186 STXB3_HUMAN Homo sapiens syntaxin binding protein 3 (STXBP3), mRNA. 235 Mediates interaction with DOC2B (By similarity). negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1) 13 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) ATTCACAGCTCTTAATAATTG 0.348000 145 14 0 0 1 0 0 SLFN13 146857 broad.mit.edu 37 17 33767741 33767741 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:33767741C>T uc002hjk.1 - 3 2897 c.2567G>A c.(2566-2568)cGa>cAa p.R856Q SLFN13_uc010wch.1_Missense_Mutation_p.R856Q|SLFN13_uc002hjl.2_Missense_Mutation_p.R856Q|SLFN13_uc002hjm.2_Missense_Mutation_p.R525Q|SLFN13_uc010ctt.2_Missense_Mutation_p.R538Q NM_144682 NP_653283 Q68D06 SLN13_HUMAN Homo sapiens schlafen family member 13 (SLFN13), mRNA. 856 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GCCTGAGAATCGCCGGACACT 0.493000 206 19 0 0 1 0 0 TNK2 10188 broad.mit.edu 37 3 195595280 195595280 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:195595280G>A uc003fvu.1 - 11 2387 c.1844C>T c.(1843-1845)cCc>cTc p.P615L TNK2_uc003fvq.1_Missense_Mutation_p.P22L|TNK2_uc003fvr.1_Missense_Mutation_p.P140L|TNK2_uc003fvs.1_Missense_Mutation_p.P647L|TNK2_uc003fvt.1_Missense_Mutation_p.P693L|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_3'UTR NM_005781 NP_005772 Q07912 ACK1_HUMAN Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA. 615 Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GGGGTGCAGGGGCCGGGGCAG 0.731000 40 8 0 0 1 0 0 FAM154A 158297 broad.mit.edu 37 9 18950914 18950914 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:18950914G>A uc003zni.2 - 1 410 c.60C>T c.(58-60)ctC>ctT p.L20L FAM154A_uc010mip.2_5'UTR NM_153707 NP_714918 Q8IYX7 F154A_HUMAN Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA. 20 breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1) 26 GBM - Glioblastoma multiforme(50;6.53e-16) TCTTGGTAGGGAGATGTGGAC 0.428000 63 11 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589760 140589760 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140589760G>A uc003liz.3 + 0 1470 c.1281G>A c.(1279-1281)ggG>ggA p.G427G PCDHB12_uc011dak.2_Silent_p.G90G NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 427 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGACTTGGGGACCCCCAGGC 0.532000 118 22 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11240292 11240292 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:11240292C>T uc002mqk.4 + 16 2680 c.2493C>T c.(2491-2493)acC>acT p.T831T LDLR_uc010xlk.2_Silent_p.T831T|LDLR_uc010xll.2_Silent_p.T790T|LDLR_uc021upc.1_Silent_p.T710T|LDLR_uc010xln.2_Silent_p.T653T|LDLR_uc010xlo.2_Silent_p.T663T|LDLR_uc010xlm.2_Silent_p.T684T|LDLR_uc021upd.1_Silent_p.T568T|LDLR_uc010dxu.3_5'UTR NM_000527 NP_000518 P01130 LDLR_HUMAN Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA. 831 Required for MYLIP-triggered down- regulation of LDLR. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) ATCAGAAGACCACAGAGGATG 0.552000 123 7 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31588338 31588338 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:31588338G>A uc002rnv.1 - 22 2608 c.2529C>T c.(2527-2529)ttC>ttT p.F843F NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 843 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) ATCTGGCCAGGAAGGGATGTC 0.582000 174 10 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47147570 47147570 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:47147570G>A uc003cqv.3 - 5 4809 c.4723C>T c.(4723-4725)Cat>Tat p.H1575Y SETD2_uc003cqs.3_Missense_Mutation_p.H1586Y NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN Homo sapiens SET domain containing 2 (SETD2), mRNA. 1586 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AACTCTTTATGATCGAGTACC 0.393000 """N, F, S, Mis""" clear cell renal carcinoma 61 10 0 0 1 0 0 GPR119 139760 broad.mit.edu 37 X 129518964 129518964 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:129518964C>T uc011muv.2 - 0 548 c.458G>A c.(457-459)gGg>gAg p.G153E NM_178471 NP_848566 Q8TDV5 GP119_HUMAN Homo sapiens G protein-coupled receptor 119 (GPR119), mRNA. 153 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 GCTGCACTGCCCTTTGTAGGC 0.557000 33 8 0 0 1 0 0 OR6C1 390321 broad.mit.edu 37 12 55715217 55715217 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:55715217A>G uc010spi.2 + 0 834 c.834A>G c.(832-834)tcA>tcG p.S278S NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA. 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 TAAACACCTCAGTAGCCCCCA 0.413000 124 8 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3304166 3304166 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:3304166G>A uc002cun.1 - 1 942 c.902C>T c.(901-903)tCg>tTg p.S301L MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron NM_000243 NP_000234 O15553 MEFV_HUMAN Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. 301 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding p.S301S(1) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) accggtgacCGAATGTTCTGG 0.562000 47 3 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38793909 38793909 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:38793909C>T uc003ciq.3 - 10 1556 c.1556G>A c.(1555-1557)gGa>gAa p.G519E NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 519 sensory perception voltage-gated sodium channel complex p.G519R(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ATCTGTGACTCCCTCAGGGAG 0.607000 42 8 0 0 1 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40844653 40844653 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:40844653C>T uc002iay.3 + 16 2883 c.2667C>T c.(2665-2667)ctC>ctT p.L889L CNTNAP1_uc010wgs.2_Non-coding_Transcript NM_003632 NP_003623 P78357 CNTP1_HUMAN Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA. 889 Laminin G-like 3. axon guidance|cell adhesion paranode region of axon SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) AGGCCCGGCTCCGAGTGGATC 0.567000 111 10 0 0 1 0 0 HTRA1 5654 broad.mit.edu 37 10 124273720 124273720 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:124273720G>A uc001lgj.2 + 8 1416 c.1288G>A c.(1288-1290)Gaa>Aaa p.E430K NM_002775 NP_002766 Q92743 HTRA1_HUMAN Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA. 430 PDZ. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) TGGTCTCAAGGAAAACGACGT 0.488000 356 20 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13168489 13168489 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:13168489G>A uc010mia.1 - 20 3187 c.3130C>T c.(3130-3132)Cga>Tga p.R1044* MPDZ_uc003zkz.4_5'UTR|MPDZ_uc010mhz.3_Nonsense_Mutation_p.R1044*|MPDZ_uc011lmn.2_Nonsense_Mutation_p.R1044*|MPDZ_uc010mhy.3_Nonsense_Mutation_p.R1044*|MPDZ_uc003zlb.4_Nonsense_Mutation_p.R1044* NM_003829 NP_003820 O75970 MPDZ_HUMAN Homo sapiens multiple PDZ domain protein (MPDZ), mRNA. 1044 PDZ 6. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) CGGCCATCTCGACTAATGGCA 0.443000 144 13 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 247556 247556 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:247556C>T uc001qhw.2 + 3 1027 c.1027C>T c.(1027-1029)Ctg>Ttg p.L343L IQSEC3_uc001qhu.1_Silent_p.L40L|LOC574538_uc001qhv.1_Non-coding_Transcript NM_001170738 NP_001164209 Q9UPP2 IQEC3_HUMAN Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA. 343 IQ. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CAACTCGCTTCTGGAGAGCCG 0.662000 33 3 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559927 44559927 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:44559927C>T uc002lcr.1 - 0 2062 c.1709G>A c.(1708-1710)aGa>aAa p.R570K KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 570 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GTCTTTCTTTCTGCGATACAG 0.498000 43 8 0 0 1 0 0 ZBTB49 166793 broad.mit.edu 37 4 4303919 4303919 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:4303919C>T uc003ghu.3 + 2 531 c.356C>T c.(355-357)tCa>tTa p.S119L ZBTB49_uc003ghv.3_Intron|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_5'Flank NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA. 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 TTTTTAAAATCAGCCACTGTA 0.418000 104 5 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10355638 10355638 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:10355638C>T uc002gmn.3 - 26 3469 c.3358G>A c.(3358-3360)Gag>Aag p.E1120K AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1120 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCCAGCTCCTCAATGCGGGCC 0.512000 60 6 0 0 1 0 0 CPSF1 29894 broad.mit.edu 37 8 145619965 145619965 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:145619965G>A uc003zcj.3 - 30 3536 c.3461C>T c.(3460-3462)cCc>cTc p.P1154L MIR939_uc022bcn.1_5'Flank NM_013291 NP_037423 Q10570 CPSF1_HUMAN Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA. 1154 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CTTGGTCAAGGGCTGGCCAGG 0.607000 58 5 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176762784 176762784 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:176762784G>A uc001gkz.3 + 19 6273 c.5109G>A c.(5107-5109)tgG>tgA p.W1703* PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1703 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGGAGCACTGGATGGAACCTG 0.478000 77 14 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21225596 21225596 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:21225596G>A uc002red.3 - 28 12826 c.12698C>T c.(12697-12699)tCg>tTg p.S4233L NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 4233 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.S4233S(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATGGACTTTCGAATATACCTG 0.413000 75 9 0 0 1 0 0 OR5M1 390168 broad.mit.edu 37 11 56380568 56380568 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:56380568G>A uc001nja.1 - 0 411 c.411C>T c.(409-411)tcC>tcT p.S137S OR8U8_uc001nit.2_Intron NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA. 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 AGATGTTCTTGGACATCCTGG 0.458000 57 4 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101016271 101016271 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:101016271C>T uc003yjb.1 - 16 2705 c.2510G>A c.(2509-2511)cGa>cAa p.R837Q RGS22_uc003yja.1_Missense_Mutation_p.R656Q|RGS22_uc003yjc.1_Missense_Mutation_p.R825Q|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.R226Q|SNORD77_uc022azg.1_5'Flank NM_015668 NP_056483 Q8NE09 RGS22_HUMAN Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA. 837 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.R837Q(3) RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ATATTCTGTTCGTTTAGAGAC 0.353000 69 5 0 0 1 0 0 VHDJH 0 broad.mit.edu 37 16 32077592 32077592 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:32077592C>T uc010vfu.2 + 0 c.23C>T Homo sapiens mRNA for immunoglobulin heavy chain, VHDJH rearrangement : VHLI26. GCCGATTCACCATCTCCAGGG 0.522000 738 19 0 0 1 0 0 STOX1 219736 broad.mit.edu 37 10 70644563 70644563 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:70644563C>T uc001jos.2 + 2 1098 c.1011C>T c.(1009-1011)ttC>ttT p.F337F STOX1_uc001joq.3_Silent_p.F227F|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Silent_p.F227F NM_001130161 NP_689922 Q6ZVD7 STOX1_HUMAN Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA. 337 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 CTGCTCAGTTCCCACCTGAAG 0.423000 71 10 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70922898 70922898 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:70922898G>A uc021vjc.1 - 5 775 c.510C>T c.(508-510)atC>atT p.I170I ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.I170I|ADD2_uc002sgz.3_Silent_p.I170I|ADD2_uc010fdt.2_Silent_p.I170I|ADD2_uc002shc.2_Silent_p.I170I|ADD2_uc010fdu.2_Silent_p.I186I NM_001185054 NP_001608 P35612 ADDB_HUMAN Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA. 170 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding F-actin capping protein complex|cytoplasm|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CCTTAGGGCTGATCAGGAAGT 0.522000 52 6 0 0 1 0 0 LEPREL1 55214 broad.mit.edu 37 3 189691750 189691750 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:189691750G>A uc011bsk.2 - 9 1884 c.1496C>T c.(1495-1497)cCc>cTc p.P499L LEPREL1_uc003fsg.3_Missense_Mutation_p.P318L NM_018192 NP_001127890 Q8IVL5 P3H2_HUMAN Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA. 499 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation Golgi apparatus|basement membrane|endoplasmic reticulum L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GGGTGTATGGGGTGAAGTTTT 0.393000 233 24 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103275896 103275896 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:103275896G>A uc022ajr.1 - 18 2601 c.2441C>T c.(2440-2442)tCa>tTa p.S814L RELN_uc022ajq.1_Missense_Mutation_p.S814L|RELN_uc010liz.3_Missense_Mutation_p.S814L NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 814 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCTGAGATATGAATAATGCTC 0.408000 56 7 0 0 1 0 0 DEFB116 245930 broad.mit.edu 37 20 29891226 29891226 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:29891226C>T uc010ztm.2 - 1 98 c.98G>A c.(97-99)aGc>aAc p.S33N NM_001037731 NP_001032820 Q30KQ4 DB116_HUMAN Homo sapiens defensin, beta 116 (DEFB116), mRNA. 33 defense response to bacterium extracellular region p.K32N(1) kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) AGGCTCTCGGCTCTTGCCATT 0.453000 68 6 0 0 1 0 0 LMNB1 4001 broad.mit.edu 37 5 126161727 126161727 + Silent SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:126161727C>A uc003kud.2 + 8 2425 c.1539C>A c.(1537-1539)ctC>ctA p.L513L LMNB1_uc010jdb.2_Non-coding_Transcript|LMNB1_uc011cxb.2_Silent_p.L303L NM_005573 NP_001185486 P20700 LMNB1_HUMAN Homo sapiens lamin B1 (LMNB1), transcript variant 1, mRNA. 513 Tail. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) CAACTGACCTCATCTGGAAGA 0.507000 43 5 0.014758 0.0148069 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11597723 11597723 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:11597723G>A uc002gne.3 + 21 4899 c.4831G>A c.(4831-4833)Gat>Aat p.D1611N DNAH9_uc010coo.3_Missense_Mutation_p.D905N NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 1611 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTCCTCCTCCGATCTGTTAGA 0.567000 55 5 0 0 1 0 0 TTC39B 158219 broad.mit.edu 37 9 15190649 15190649 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:15190649G>A uc003zlr.2 - 10 1045 c.1008C>T c.(1006-1008)ctC>ctT p.L336L TTC39B_uc003zlq.2_Silent_p.L239L|TTC39B_uc011lmp.2_Silent_p.L171L|TTC39B_uc010mie.2_Silent_p.L334L|TTC39B_uc011lmr.2_Silent_p.L267L|TTC39B_uc011lmq.2_Silent_p.L336L|TTC39B_uc010mif.2_Silent_p.L336L|TTC39B_uc003zls.1_Silent_p.L171L|TTC39B_uc010mig.1_Silent_p.L239L|TTC39B_uc011lms.2_Non-coding_Transcript|TTC39B_uc003zlp.2_5'Flank NM_152574 NP_001161814 Q5VTQ0 TT39B_HUMAN Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA. 270 binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1) 21 GTAACTGCAGGAGGCCCAACT 0.388000 27 3 0 0 1 0 0 OR6C4 341418 broad.mit.edu 37 12 55945573 55945573 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:55945573C>T uc010spp.2 + 0 563 c.563C>T c.(562-564)tCa>tTa p.S188L NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA. 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 CTTGCCTGCTCAGACACAAGC 0.468000 78 5 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152083119 152083119 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:152083119C>T uc009wne.1 - 2 2846 c.2574G>A c.(2572-2574)gaG>gaA p.E858E TCHH_uc001ezp.2_Silent_p.E858E NM_007113 NP_009044 Q07283 TRHY_HUMAN Homo sapiens trichohyalin (TCHH), mRNA. 858 keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTCCTGATCCTCCTGGAGGC 0.627000 109 8 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50350551 50350551 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:50350551A>G uc004dpe.2 - 5 3617 c.3591T>C c.(3589-3591)ggT>ggC p.G1197G SHROOM4_uc004dpd.3_Non-coding_Transcript NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA. 1197 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) CACTTTGTGAACCCTGTCTCG 0.537000 37 4 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6714067 6714067 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:6714067C>T uc002mfm.3 - 6 771 c.709G>A c.(709-711)Gag>Aag p.E237K NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 237 G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TCTGTAGGCTCCACTATGACC 0.632000 118 13 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3241044 3241044 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:3241044C>T uc004crg.4 - 4 2839 c.2682G>A c.(2680-2682)aaG>aaA p.K894K NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 894 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCTCCTCAGTCTTCTCGGAAA 0.473000 44 5 0 0 1 0 0 LRRN3 54674 broad.mit.edu 37 7 110763511 110763511 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:110763511C>T uc003vft.4 + 3 1729 c.683C>T c.(682-684)cCa>cTa p.P228L IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.P228L|LRRN3_uc003vfs.4_Missense_Mutation_p.P228L|LRRN3_uc022akc.1_Missense_Mutation_p.P228L NM_001099660 NP_060804 Q9H3W5 LRRN3_HUMAN Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA. 228 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ACAGAAATACCAGATAACGCC 0.368000 55 10 0 0 1 0 0 APOL3 80833 broad.mit.edu 37 22 36556777 36556778 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:36556777_36556778CC>TT uc003aot.3 - 0 200_201 c.162_163GG>AA c.(160-165)gtggga>gtAAga p.G55R APOL3_uc003aoq.3_5'UTR|APOL3_uc003aor.3_5'UTR|APOL3_uc003aos.3_5'UTR|APOL3_uc003aou.3_5'UTR|APOL3_uc003aov.3_5'UTR NM_145640 NP_663617 O95236 APOL3_HUMAN Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA. 55 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity endometrium(2)|large_intestine(1)|lung(1)|stomach(1) 5 TGTGTGGATCCCACCTCCAGCC 0.515000 131 10 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539700 56539700 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:56539700C>T uc002qmj.3 + 6 2101 c.2101C>T c.(2101-2103)Cgc>Tgc p.R701C NLRP5_uc002qmi.3_Missense_Mutation_p.R682C NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 701 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) AGAGTTTGTTCGCTTGGCATT 0.517000 133 22 0 0 1 0 0 WAC 51322 broad.mit.edu 37 10 28905197 28905197 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:28905197C>T uc001iuf.3 + 11 1740 c.1652C>T c.(1651-1653)tCc>tTc p.S551F WAC_uc001iud.3_Missense_Mutation_p.S506F|WAC_uc001iue.3_Missense_Mutation_p.S241F|WAC_uc001iug.3_Missense_Mutation_p.S448F|WAC_uc001iuh.3_Missense_Mutation_p.S502F NM_016628 NP_057712 Q9BTA9 WAC_HUMAN Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA. 551 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck RNA polymerase II core binding|chromatin binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 TCTGCCCGATCCACGTGTTCA 0.443000 107 15 0 0 1 0 0 ESYT3 83850 broad.mit.edu 37 3 138189866 138189866 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:138189866C>T uc003esk.3 + 16 1964 c.1738C>T c.(1738-1740)Cgg>Tgg p.R580W ESYT3_uc010hug.2_Non-coding_Transcript NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA. 580 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 GCTGGTGCTTCGGGTAAATCT 0.597000 85 7 0 0 1 0 0 BV13S6J2.1 0 broad.mit.edu 37 7 142180714 142180714 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142180714C>T uc011krz.2 - 1 194 c.145G>A c.(145-147)Gaa>Aaa p.E49K TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Missense_Mutation_p.E49K|BV13S6J2.1_uc022anl.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; GACATGTATTCATGGTTCATA 0.517000 526 15 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 63018492 63018492 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:63018492G>A uc001daq.3 - 21 2711 c.2677C>T c.(2677-2679)Cgt>Tgt p.R893C DOCK7_uc001dan.3_Missense_Mutation_p.R785C|DOCK7_uc001dao.3_Missense_Mutation_p.R785C|DOCK7_uc001dap.3_Missense_Mutation_p.R893C|DOCK7_uc001dam.3_Missense_Mutation_p.R73C NM_033407 NP_212132 Q96N67 DOCK7_HUMAN Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA. 893 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 CTTCGAGAACGATTTAAATTA 0.443000 64 9 0 0 1 0 0 ZNF823 55552 broad.mit.edu 37 19 11832886 11832886 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:11832886T>C uc002msm.2 - 3 1589 c.1463A>G c.(1462-1464)cAa>cGa p.Q488R ZNF823_uc010xmd.1_Missense_Mutation_p.Q306R|ZNF823_uc010dyi.1_Missense_Mutation_p.Q444R NM_001080493 NP_001073962 P16415 ZN823_HUMAN Homo sapiens zinc finger protein 823 (ZNF823), mRNA. 488 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 CCTTTTATGTTGAGAAAGGTA 0.373000 HNSCC(68;0.2) 114 8 0 0 1 0 0 SCNN1G 6340 broad.mit.edu 37 16 23224170 23224170 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:23224170G>A uc002dlm.1 + 9 1525 c.1386G>A c.(1384-1386)tgG>tgA p.W462* NM_001039 NP_001030 P51170 SCNNG_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA. 462 EWT -> DGH (in Ref. 5; AAC50758). excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane WW domain binding|ligand-gated sodium channel activity NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) TTAAAGAGTGGACACTAACCA 0.597000 102 8 0 0 1 0 0 FAM75D1 389763 broad.mit.edu 37 9 84609113 84609113 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:84609113G>A uc004amn.3 + 3 3775 c.3728G>A c.(3727-3729)gGc>gAc p.G1243D NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA. 1243 integral to membrane cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 88 AATTCCCAGGGCATCTCGAGT 0.532000 280 33 0 0 1 0 0 IL21R 50615 broad.mit.edu 37 16 27448906 27448906 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:27448906G>A uc002dor.2 + 4 864 c.316G>A c.(316-318)Gat>Aat p.D106N IL21R_uc002doq.2_Missense_Mutation_p.D84N|IL21R_uc002dos.2_Missense_Mutation_p.D84N NM_181079 NP_851565 Q9HBE5 IL21R_HUMAN Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA. 84 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 CTGCCACATGGATGTATTCCA 0.557000 T BCL6 NHL 110 8 0 0 1 0 0 RUVBL1 8607 broad.mit.edu 37 3 127823693 127823693 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:127823693G>A uc003ekh.3 - 3 540 c.436C>T c.(436-438)Ccc>Tcc p.P146S RUVBL1_uc003ekf.3_Missense_Mutation_p.P86S|RUVBL1_uc010hss.3_Missense_Mutation_p.P146S NM_003707 NP_003698 Q9Y265 RUVB1_HUMAN Homo sapiens RuvB-like 1 (E. coli) (RUVBL1), mRNA. 146 CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|cell division|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|membrane|microtubule organizing center|nuclear matrix ATP binding|DNA helicase activity|protein binding endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GBM - Glioblastoma multiforme(114;0.181) CCTCCCATGGGATTCTCTGTC 0.478000 110 14 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537550 55537550 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:55537550C>T uc003xsd.1 + 3 1256 c.1108C>T c.(1108-1110)Cca>Tca p.P370S RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 370 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.F369I(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GATGAGTTTTCCAGGAAGAAC 0.398000 35 4 0 0 1 0 0 OR52K1 390036 broad.mit.edu 37 11 4510979 4510979 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:4510979C>T uc001lza.2 + 0 871 c.849C>T c.(847-849)ctC>ctT p.L283L NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA. 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) TTTTCTATCTCCTTTTCCCAC 0.478000 173 15 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50768817 50768817 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:50768817G>A uc002xwl.3 - 5 2263 c.1914C>T c.(1912-1914)atC>atT p.I638I ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Silent_p.I636I|ZFP64_uc002xwn.3_Silent_p.I584I NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA. 638 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 TGGCCACTGCGATGTTCTGGC 0.557000 70 9 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109527316 109527316 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:109527316G>A uc010fjn.3 - 7 1289 c.742C>T c.(742-744)Ctc>Ttc p.L248F EDAR_uc010yws.2_Missense_Mutation_p.L248F|EDAR_uc002teq.4_Intron NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN Homo sapiens ectodysplasin A receptor (EDAR), mRNA. 217 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 GCTGGGGAGAGAGGAGGGAGT 0.672000 51 7 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9060158 9060158 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9060158C>T uc002mkp.3 - 2 27492 c.27288G>A c.(27286-27288)ttG>ttA p.L9096L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9098 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTGAAGTGTCCAAGGTAAGGG 0.483000 93 8 0 0 1 0 0 CDH1 999 broad.mit.edu 37 16 68856025 68856025 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:68856025C>T uc002ewg.1 + 11 1957 c.1833C>T c.(1831-1833)gtC>gtT p.V611V CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Silent_p.V550V NM_004360 NP_004351 P12830 CADH1_HUMAN Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA. 611 Cadherin 5. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.Q610L(1) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) AGCCTCAGGTCATAAACATCA 0.493000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 111 7 0 0 1 0 0 ZBED2 79413 broad.mit.edu 37 3 111312580 111312580 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:111312580C>T uc003dxy.3 - 1 1370 c.469G>A c.(469-471)Gaa>Aaa p.E157K CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.E157K NM_024508 NP_078784 Q9BTP6 ZBED2_HUMAN Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA. 157 DNA binding|metal ion binding p.R156R(1) large_intestine(3)|lung(1)|skin(2) 6 ACCTCCTTTTCCCTTTGGCTG 0.627000 134 19 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61828647 61828647 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:61828647C>T uc001jky.3 - 36 12330 c.11992G>A c.(11992-11994)Gaa>Aaa p.E3998K ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 3998 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTAAAATATTCAATGGAATGT 0.453000 63 5 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168849266 168849266 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:168849266G>A uc011bpj.1 - 3 967 c.564C>T c.(562-564)ttC>ttT p.F188F MECOM_uc010hwk.1_Silent_p.F23F|MECOM_uc003ffj.3_Silent_p.F64F|MECOM_uc003ffi.3_5'UTR|MECOM_uc011bpi.1_5'UTR|MECOM_uc003ffn.3_5'UTR|MECOM_uc003ffk.2_5'UTR|MECOM_uc003ffl.2_Silent_p.F160F|MECOM_uc011bpk.1_5'UTR|MECOM_uc010hwn.2_Silent_p.F188F|MECOM_uc003ffm.1_Silent_p.F64F NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 95 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CGCTCTTCATGAACAGCAGAA 0.458000 24 4 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8176916 8176916 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:8176916C>T uc002mjf.3 - 29 3923 c.3906G>A c.(3904-3906)ggG>ggA p.G1302G NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 1302 EGF-like 19; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 AGCTGAAACTCCCCGGGATGT 0.592000 194 6 0 0 1 0 0 CRTC3 64784 broad.mit.edu 37 15 91083328 91083329 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:91083328_91083329CC>TT uc002bpp.3 + 1 296_297 c.190_191CC>TT c.(190-192)cca>TTa p.P64L CRTC3_uc002bpn.3_Missense_Mutation_p.P64L|CRTC3_uc002bpo.3_Missense_Mutation_p.P64L NM_022769 NP_073606 Q6UUV7 CRTC3_HUMAN Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA. 64 Required for interaction with HTLV-1 TAX. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) AGGATCCTTACCAAATGTGAGC 0.431000 T MAML2 salivary gland mucoepidermoid 65 6 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21124509 21124509 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:21124509C>T uc001iqi.3 - 13 1779 c.1382G>A c.(1381-1383)gGa>gAa p.G461E NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 461 regulation of actin filament length actin binding|structural constituent of muscle p.G461*(2) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AGCTTGCATTCCTTTCCCTTT 0.448000 191 11 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61994536 61994536 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:61994536G>A uc001jky.3 - 7 1145 c.807C>T c.(805-807)atC>atT p.I269I ANK3_uc010qih.2_Silent_p.I252I|ANK3_uc001jkz.4_Silent_p.I263I|ANK3_uc001jlb.1_5'UTR NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 269 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GTAAAGGAGTGATGTCATTCT 0.393000 37 3 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100686592 100686592 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:100686592G>A uc003uxp.1 + 2 11948 c.11895G>A c.(11893-11895)gtG>gtA p.V3965V MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3965 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTACCCCTGTGATAACTTCCA 0.448000 133 9 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22749192 22749192 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:22749192G>A uc003gqp.4 + 2 651 c.560G>A c.(559-561)gGg>gAg p.G187E GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.G188E NM_020973 NP_066024 Q9H227 GBA3_HUMAN Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA. 187 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity p.G187G(1) breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CCTCACTTTGGGACTGGAGGT 0.438000 90 7 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20702343 20702343 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:20702343C>T uc002dhm.1 - 0 236 c.168G>A c.(166-168)ctG>ctA p.L56L ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.L56L NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 56 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 CCCAGTAGTCCAGTACATAAC 0.473000 64 7 0 0 1 0 0 MYCT1 80177 broad.mit.edu 37 6 153043328 153043328 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:153043328C>T uc003qpc.4 + 1 656 c.648C>T c.(646-648)ggC>ggT p.G216G NM_025107 NP_079383 Q8N699 MYCT1_HUMAN Homo sapiens myc target 1 (MYCT1), mRNA. 216 nucleus NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) TTCGAGTGGGCCTTTCAACAC 0.512000 101 7 0 0 1 0 0 PI4K2A 55361 broad.mit.edu 37 10 99410789 99410789 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:99410789C>T uc001kog.1 + 1 584 c.527C>T c.(526-528)cCt>cTt p.P176L PI4K2A_uc010qoy.1_Missense_Mutation_p.P146L|PI4K2A_uc009xvw.1_5'UTR NM_018425 NP_060895 Q9BTU6 P4K2A_HUMAN Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA. 176 PI3K/PI4K. phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding p.P176P(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) CTGTGCTGTCCTTGCTGCTTT 0.512000 51 7 0 0 1 0 0 ZNF133 7692 broad.mit.edu 37 20 18297413 18297413 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:18297413C>T uc010zrv.1 + 4 2130 c.1927C>T c.(1927-1929)Cct>Tct p.P643S ZNF133_uc010gcq.2_Missense_Mutation_p.P640S|ZNF133_uc010zrw.1_Missense_Mutation_p.P577S|ZNF133_uc010gcr.2_Missense_Mutation_p.P640S|ZNF133_uc010zrx.1_Missense_Mutation_p.P545S|ZNF133_uc002wql.4_Missense_Mutation_p.P639S|ZNF133_uc010gcs.3_Missense_Mutation_p.P639S|ZNF133_uc010zry.2_Missense_Mutation_p.P545S|ZNF133_uc002wqm.2_Missense_Mutation_p.P640S NM_003434 NP_003425 P52736 ZN133_HUMAN Homo sapiens zinc finger protein 133 (ZNF133), transcript variant 1, mRNA. 640 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 GCAGCCCGACCCTGAGCCGTG 0.542000 102 8 0 0 1 0 0 DDX31 64794 broad.mit.edu 37 9 135517413 135517413 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:135517413C>T uc004cbq.1 - 13 1885 c.1733G>A c.(1732-1734)aGa>aAa p.R578K DDX31_uc010mzu.1_Missense_Mutation_p.R578K|DDX31_uc004cbr.1_Missense_Mutation_p.R578K NM_022779 NP_073616 Q9H8H2 DDX31_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA. 578 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) GACGCCTCTTCTGGAATGTGA 0.428000 53 9 0 0 1 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150417459 150417459 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:150417459C>T uc003whq.3 + 2 507 c.367C>T c.(367-369)Cgg>Tgg p.R123W GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.R123W NM_130759 NP_570115 Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA. CCAGTTGGGTCGGTTCACCGC 0.622000 44 4 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50662616 50662616 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:50662616C>T uc003bkb.1 - 12 2736 c.2224G>A c.(2224-2226)Gag>Aag p.E742K TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Missense_Mutation_p.E742K|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hat.1_5'UTR|TUBGCP6_uc003bkd.1_Missense_Mutation_p.E96K NM_020461 NP_065194 Q96RT7 GCP6_HUMAN Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA. 742 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGCCTTCTCTCCCTGTCTCGG 0.637000 75 5 0 0 1 0 0 C4orf22 255119 broad.mit.edu 37 4 81504327 81504327 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:81504327G>A uc010ijp.3 + 2 372 c.323G>A c.(322-324)gGa>gAa p.G108E C4orf22_uc003hmf.3_Missense_Mutation_p.G108E NM_001206997 NP_001193926 Q6V702 CD022_HUMAN Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA. 108 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 AATCGCAGTGGAAAACTGAGT 0.343000 50 5 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2378692 2378692 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:2378692G>A uc002wfy.1 + 5 733 c.672_splice c.e5+1 p.M224_splice TGM6_uc010gal.1_Splice_Site_p.M224_splice NM_198994 NP_945345 O95932 TGM3L_HUMAN Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA. 224 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) TCAGTGCCATGGTGAGAAGCC 0.582000 117 7 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885825 88885825 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:88885825C>T uc003ydz.3 - 0 472 c.375G>A c.(373-375)cgG>cgA p.R125R NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA. 125 p.R125W(2) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 AATTCACCTTCCGATTAGGGA 0.562000 101 12 0 0 1 0 0 OR2K2 26248 broad.mit.edu 37 9 114089932 114089932 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:114089932G>A uc011lwp.2 - 0 782 c.782C>T c.(781-783)cCt>cTt p.P261L NM_205859 NP_995581 Q8NGT1 OR2K2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA. 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 TGATGAAGAAGGCTTTAGGTA 0.413000 42 9 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149240999 149240999 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:149240999G>A uc002twm.4 + 9 3836 c.2839G>A c.(2839-2841)Gga>Aga p.G947R MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_5'UTR|MBD5_uc002twp.3_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 947 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) GCCTTCAGCAGGAGAAGGCAA 0.468000 54 5 0 0 1 0 0 NCOA7 135112 broad.mit.edu 37 6 126210353 126210353 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:126210353C>T uc003qai.3 + 8 1522 c.1153C>T c.(1153-1155)Ccc>Tcc p.P385S NCOA7_uc010kes.3_Missense_Mutation_p.P385S|NCOA7_uc003qae.4_Missense_Mutation_p.P385S|NCOA7_uc010ket.3_Missense_Mutation_p.P270S|NCOA7_uc003qah.3_Missense_Mutation_p.P374S NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA. 385 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) CCATGGTTCTCCCACAGTGAC 0.458000 28 8 0 0 1 0 0 FMO5 2330 broad.mit.edu 37 1 146673043 146673043 + Missense_Mutation SNP G A A rs143729816 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:146673043G>A uc001epi.2 - 6 1263 c.874C>T c.(874-876)Cgt>Tgt p.R292C FMO5_uc001eph.4_Missense_Mutation_p.R292C|FMO5_uc001epj.2_Intron NM_001461 NP_001452 P49326 FMO5_HUMAN Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA. 292 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity p.R292S(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 25 all_hematologic(923;0.0487) GAAATGATACGATTTGGCAGG 0.448000 96 7 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51901439 51901439 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:51901439G>A uc002iua.2 + 0 1201 c.1045G>A c.(1045-1047)Gac>Aac p.D349N KIF2B_uc010wna.1_Non-coding_Transcript NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN Homo sapiens kinesin family member 2B (KIF2B), mRNA. 349 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TGAGAAGCTGGACCTCAAAGT 0.448000 110 8 0 0 1 0 0 HHLA2 11148 broad.mit.edu 37 3 108074105 108074105 + Missense_Mutation SNP G A A rs137976918 by1000genomes TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:108074105G>A uc003dwz.3 + 4 976 c.562G>A c.(562-564)Ggg>Agg p.G188R HHLA2_uc011bhl.2_Missense_Mutation_p.G124R|HHLA2_uc010hpu.3_Missense_Mutation_p.G188R|HHLA2_uc003dwy.4_Missense_Mutation_p.G188R NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA. 188 Ig-like C1-type. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 GGAAGAAACAGGGTCTTTGGA 0.363000 23 5 0 0 1 0 0 DHODH 1723 broad.mit.edu 37 16 72057474 72057474 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:72057474A>T uc002fbp.3 + 7 1096 c.1075A>T c.(1075-1077)Acc>Tcc p.T359S NM_001361 NP_001352 Q02127 PYRD_HUMAN Homo sapiens dihydroorotate dehydrogenase (quinone) (DHODH), nuclear gene encoding mitochondrial protein, mRNA. 359 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|pyrimidine nucleoside biosynthetic process integral to membrane|mitochondrial inner membrane dihydroorotate oxidase activity breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1) 10 Ovarian(137;0.125) Atovaquone(DB01117)|Leflunomide(DB01097) CACGGCCCTCACCTTCTGGGG 0.607000 67 8 0 0 1 0 0 SLC30A2 7780 broad.mit.edu 37 1 26365694 26365694 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:26365694T>C uc001blg.1 - 7 1293 c.1076A>G c.(1075-1077)gAg>gGg p.E359G SLC30A2_uc001blh.1_Missense_Mutation_p.E310G NM_001004434 NP_001004434 Q9BRI3 ZNT2_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 2 (SLC30A2), transcript variant 1, mRNA. 310 positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) CTTCATGTCCTCCGAGTAGTC 0.602000 69 4 0 0 1 0 0 NPLOC4 55666 broad.mit.edu 37 17 79536121 79536121 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:79536121G>A uc002kau.3 - 13 1552 c.1370C>T c.(1369-1371)cCc>cTc p.P457L NPLOC4_uc002kat.4_Missense_Mutation_p.P457L|NPLOC4_uc010wur.1_Missense_Mutation_p.P296L|NPLOC4_uc010dic.3_5'Flank|NPLOC4_uc002kas.3_5'UTR NM_017921 NP_060391 Q8TAT6 NPL4_HUMAN Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA. 457 ER-associated protein catabolic process|Golgi organization|cellular membrane fusion cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TGGATCCTTGGGGAAAGTTGT 0.433000 50 6 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36874242 36874242 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:36874242G>A uc003cgj.3 - 20 6948 c.6700C>T c.(6700-6702)Cat>Tat p.H2234Y NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2234 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 ACTCTCTGATGGAAATGCTTA 0.373000 87 13 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754071 49754071 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:49754071C>T uc003ozu.3 - 0 983 c.830G>A c.(829-831)gGt>gAt p.G277D NM_138733 NP_620061 P07205 PGK2_HUMAN Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA. 277 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) AATCCTTACACCATTCTTTTG 0.438000 114 10 0 0 1 0 0 KDM2A 22992 broad.mit.edu 37 11 66999121 66999121 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:66999121C>T uc001ojw.3 + 11 2033 c.1169C>T c.(1168-1170)tCt>tTt p.S390F KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Missense_Mutation_p.S84F NM_012308 NP_036440 Q9Y2K7 KDM2A_HUMAN Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA. 390 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm 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|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 AGCAGGCGTTCTGTCCTCACT 0.502000 14 4 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143095028 143095028 + Missense_Mutation SNP G A A rs142265364 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:143095028G>A uc003wcz.3 - 7 1687 c.1600C>T c.(1600-1602)Cgg>Tgg p.R534W NM_005232 NP_005223 P21709 EPHA1_HUMAN Homo sapiens EPH receptor A1 (EPHA1), mRNA. 534 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GGGCTGGTCCGAAACTCATGA 0.562000 99 10 0 0 1 0 0 NPY1R 4886 broad.mit.edu 37 4 164246577 164246577 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:164246577C>T uc003iqm.2 - 2 1498 c.1033G>A c.(1033-1035)Gat>Aat p.D345N NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Missense_Mutation_p.D102N NM_000909 NP_000900 P25929 NPY1R_HUMAN Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA. 345 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding p.D344H(1) breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TCATAATCATCATCCCGAGAC 0.398000 114 6 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9049163 9049163 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9049163G>A uc002mkp.3 - 4 32672 c.32468C>T c.(32467-32469)tCa>tTa p.S10823L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10825 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CGTGACCAATGAAACTGTTGT 0.483000 107 13 0 0 1 0 0 PARM1 25849 broad.mit.edu 37 4 75938171 75938171 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:75938171G>A uc003hih.2 + 1 833 c.580G>A c.(580-582)Gag>Aag p.E194K NM_015393 NP_056208 Q6UWI2 PARM1_HUMAN Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA. 194 positive regulation of telomerase activity Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 AACTGCACCAGAGTCCCCGAC 0.567000 191 11 0 0 1 0 0 PPAP2B 8613 broad.mit.edu 37 1 56989547 56989547 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:56989547G>A uc001cyj.2 - 3 1149 c.581C>T c.(580-582)tCc>tTc p.S194F NM_003713 NP_003704 O14495 LPP3_HUMAN Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA. 194 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process Golgi apparatus|adherens junction|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 AGAGAAGAAGGACTTCCTGCA 0.493000 40 9 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590232 140590232 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140590232C>T uc003liz.3 + 0 1942 c.1753C>T c.(1753-1755)Ctg>Ttg p.L585L PCDHB12_uc011dak.2_Silent_p.L248L NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 585 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCGGGCTACCTGGTGACCAA 0.697000 349 22 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101818679 101818679 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:101818679G>A uc004azb.1 + 34 3536 c.3330G>A c.(3328-3330)ctG>ctA p.L1110L NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 1110 Nonhelical region 9 (NC9). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) CAGCTATCCTGGGAGCAGGTT 0.622000 40 3 0 0 1 0 0 WDTC1 23038 broad.mit.edu 37 1 27631507 27631507 + Silent SNP C T T rs143241417 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:27631507C>T uc009vst.2 + 14 2194 c.1659C>T c.(1657-1659)atC>atT p.I553I WDTC1_uc001bno.3_Silent_p.I552I|WDTC1_uc001bnp.1_Intron|WDTC1_uc001bnq.3_Silent_p.I231I NM_015023 NP_055838 Q8N5D0 WDTC1_HUMAN Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA. 553 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) CTCAGTATATCGTCAGTGGCT 0.587000 36 4 0 0 1 0 0 TTC30A 92104 broad.mit.edu 37 2 178482100 178482100 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:178482100C>T uc002ulo.3 - 0 1595 c.1330G>A c.(1330-1332)Gaa>Aaa p.E444K NM_152275 NP_689488 Q86WT1 TT30A_HUMAN Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA. 444 cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) AAGACCTTTTCCACCATTGGA 0.388000 41 3 0 0 1 0 0 OR6C2 341416 broad.mit.edu 37 12 55846840 55846840 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:55846840C>T uc001sgz.1 + 0 843 c.843C>T c.(841-843)ccC>ccT p.P281P NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA. 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 CTGTCGCACCCTTGTTGAACC 0.413000 44 5 0 0 1 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48601485 48601485 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:48601485T>C uc010xzd.2 - 5 846 c.509A>G c.(508-510)aAg>aGg p.K170R PLA2G4C_uc002phw.3_Missense_Mutation_p.K95R|PLA2G4C_uc010elr.3_Missense_Mutation_p.K160R|PLA2G4C_uc002phx.3_Missense_Mutation_p.K160R|PLA2G4C_uc002phy.4_Missense_Mutation_p.K160R NM_001159322 NP_001152794 Q9UP65 PA24C_HUMAN Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA. 160 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) TTCCACGGGCTTCTTCATATT 0.537000 67 17 0 0 1 0 0 AKD1 221264 broad.mit.edu 37 6 109863281 109863281 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:109863281G>A uc003ptn.2 - 26 3396 c.3319C>T c.(3319-3321)Ctt>Ttt p.L1107F AKD1_uc011eat.1_Missense_Mutation_p.L186F NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA. 1107 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2) 20 CACTCAGAAAGAATTACTTCA 0.299000 21 3 0 0 1 0 0 ANKRD20A2 441430 broad.mit.edu 37 2 95497827 95497827 + RNA SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:95497827G>A uc010fhp.3 - 6 c.721C>T Q5SQ80 A20A2_HUMAN Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA. large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 4 ACTTTCTCGGGGACACACTGC 0.353000 129 14 0 0 1 0 0 ERF 2077 broad.mit.edu 37 19 42753164 42753164 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:42753164G>A uc002ote.4 - 3 1258 c.1100C>T c.(1099-1101)tCc>tTc p.S367F ERF_uc002otd.4_Missense_Mutation_p.S98F NM_006494 NP_006485 P50548 ERF_HUMAN Homo sapiens Ets2 repressor factor (ERF), mRNA. 367 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) AGAAGAAGAGGATGACGAGGC 0.687000 89 15 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69696465 69696465 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:69696465C>T uc003hee.3 + 5 1480 c.1455C>T c.(1453-1455)ttC>ttT p.F485F UGT2B10_uc011cam.2_Silent_p.F401F NM_001075 NP_001066 P36537 UDB10_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA. 485 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TCACCTGGTTCCAGTACCACT 0.483000 182 8 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11008832 11008832 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:11008832G>A uc010oao.2 - 11 1360 c.1360C>T c.(1360-1362)Ccc>Tcc p.P454S C1orf127_uc001ars.2_Missense_Mutation_p.P289S|C1orf127_uc001arr.2_Missense_Mutation_p.P297S NM_001170754 NP_001164225 B7ZLG7 B7ZLG7_HUMAN Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA. 305 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) ACCACTCTGGGGAGAATGGAG 0.607000 158 13 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55401049 55401049 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:55401049G>A uc002qhr.1 + 4 881 c.684G>A c.(682-684)ttG>ttA p.L228L FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Silent_p.L179L|FCAR_uc010esi.1_Silent_p.L105L|FCAR_uc002qhu.1_Silent_p.L132L|FCAR_uc002qhv.1_Silent_p.L206L|FCAR_uc002qhw.1_Silent_p.L216L|FCAR_uc002qhx.1_Silent_p.L120L|FCAR_uc002qhy.1_Silent_p.L194L|FCAR_uc002qhz.1_Missense_Mutation_p.D192N|FCAR_uc002qia.1_Silent_p.L119L NM_002000 NP_001991 P24071 FCAR_HUMAN Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA. 228 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CGCAGAACTTGATCCGCATGG 0.537000 681 31 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47692664 47692664 + Missense_Mutation SNP G T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:47692664G>T uc002zir.1 - 7 2312 c.2276C>A c.(2275-2277)gCc>gAc p.A759D NM_003906 NP_003897 O60318 MCM3A_HUMAN Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA. 759 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) CATGAAGTGGGCACAGTGGAT 0.557000 115 9 5.16669e-11 5.22642e-11 1 1 0 ATP6V0A1 535 broad.mit.edu 37 17 40673057 40673057 + Missense_Mutation SNP G C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:40673057G>C uc002hzs.3 + 20 2603 c.2436G>C c.(2434-2436)caG>caC p.Q812H ATP6V0A1_uc002hzr.3_Missense_Mutation_p.Q811H|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.Q805H|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.Q768H|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.Q762H|ATP6V0A1_uc010cyg.3_Missense_Mutation_p.Q457H|ATP6V0A1_uc010wgl.2_Missense_Mutation_p.Q670H|ATP6V0A1_uc002hzt.3_Missense_Mutation_p.Q95H|ATP6V0A1_uc002hzu.3_Missense_Mutation_p.R96T NM_001130020 NP_001123492 Q93050 VPP1_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA. 811 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) TTGAGTTCCAGAATAAATTCT 0.468000 294 24 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10088126 10088126 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:10088126G>A uc002mmq.1 - 42 3235 c.3149C>T c.(3148-3150)cCc>cTc p.P1050L NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 1050 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TTTGCCAGTGGGGCCAGGGGG 0.657000 75 5 0 0 1 0 0 PRAME 23532 broad.mit.edu 37 22 22893200 22893200 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:22893200C>T uc002zwf.3 - 2 489 c.333G>A c.(331-333)gaG>gaA p.E111E abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Silent_p.E95E|PRAME_uc010gtr.3_Silent_p.E111E|PRAME_uc002zwg.3_Silent_p.E111E|PRAME_uc002zwh.3_Silent_p.E111E|PRAME_uc002zwi.3_Silent_p.E111E|PRAME_uc002zwj.3_Silent_p.E111E|PRAME_uc002zwk.3_Silent_p.E111E NM_206956 NP_996839 P78395 PRAME_HUMAN Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA. 111 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) TGGGGCGAACCTCCTGGGCAA 0.597000 169 14 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174417 51174417 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:51174417C>T uc021tif.1 - 1 1747 c.1425G>A c.(1423-1425)acG>acA p.T475T SALL1_uc021tid.1_Silent_p.T475T|SALL1_uc021tie.1_Silent_p.T572T|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 572 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CTGGCTCTTCCGTCTTGATGA 0.607000 83 7 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67681173 67681173 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:67681173C>T uc002aqo.2 + 11 1558 c.1461C>T c.(1459-1461)gcC>gcT p.A487A IQCH_uc002aqp.2_Silent_p.A239A|IQCH_uc002aqq.2_Silent_p.A235A NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA. 487 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) TTTTAGATGCCAATGTGAATG 0.378000 58 6 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38091654 38091654 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:38091654C>T uc003gtb.3 + 12 2510 c.2152C>T c.(2152-2154)Cgt>Tgt p.R718C TBC1D1_uc011byd.2_Missense_Mutation_p.R812C|TBC1D1_uc010ifd.3_Missense_Mutation_p.R505C|TBC1D1_uc011byf.1_Missense_Mutation_p.R589C NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA. 718 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 AAGGACATCTCGTGAGCTCCG 0.488000 63 9 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29451758 29451758 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:29451758C>T uc002rmy.3 - 15 3759 c.2807G>A c.(2806-2808)gGa>gAa p.G936E NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 936 Gly-rich. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) ACCTATATATCCTCCGCCTCC 0.622000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 115 7 0 0 1 0 0 CRHR1 1394 broad.mit.edu 37 17 43898795 43898795 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:43898795C>T uc010dap.3 + 3 581 c.316C>T c.(316-318)Ctc>Ttc p.L106F CRHR1_uc010wjx.2_5'UTR|CRHR1_uc002ijp.3_Intron|CRHR1_uc002ijm.3_Missense_Mutation_p.L106F|CRHR1_uc002ijn.3_Missense_Mutation_p.L66F|CRHR1_uc010dar.3_Missense_Mutation_p.L106F|CRHR1_uc010dao.3_Intron|CRHR1_uc010daq.3_5'UTR|CRHR1_uc010das.1_Non-coding_Transcript|CRHR1_uc002ijo.1_Intron NM_001145146 NP_001138618 P34998 CRFR1_HUMAN Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA. 106 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) CCAGGAGATCCTCAATGAGGA 0.597000 99 11 0 0 1 0 0 STAC2 342667 broad.mit.edu 37 17 37371248 37371248 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:37371248C>T uc002hrs.3 - 5 1013 c.728G>A c.(727-729)gGg>gAg p.G243E STAC2_uc010cvt.3_Missense_Mutation_p.G101E NM_198993 NP_945344 Q6ZMT1 STAC2_HUMAN Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA. 243 intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 GCTGCCTTCCCCATCCTCGGT 0.627000 379 42 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140203480 140203480 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140203480C>T uc003lhl.2 + 0 2120 c.2120C>T c.(2119-2121)tCc>tTc p.S707F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.S707F|PCDHAC2_uc003lhj.1_Missense_Mutation_p.S707F NM_018908 NP_061731 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA. 716 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGCGGTGTCCAGCCTGCTG 0.692000 108 17 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32445948 32445948 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:32445948C>T uc003amc.3 + 1 404 c.154C>T c.(154-156)Cgt>Tgt p.R52C NM_000343 NP_000334 P13866 SC5A1_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA. 52 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding p.N51H(1) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 TTCCACCAATCGTGGGACTGT 0.468000 300 22 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43547341 43547341 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:43547341C>T uc002zag.1 + 17 3903 c.3903C>T c.(3901-3903)ttC>ttT p.F1301F UMODL1_uc002zad.1_Silent_p.F1101F|UMODL1_uc002zae.1_Silent_p.F1229F|UMODL1_uc002zaf.1_Silent_p.F1173F|UMODL1_uc002zal.1_Silent_p.F123F|UMODL1_uc010gpa.1_5'Flank NM_173568 NP_001186456 Q5DID0 UROL1_HUMAN Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA. 1173 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 CCTTCAGCTTCATTAACAACA 0.557000 57 8 0 0 1 0 0 GALT 2592 broad.mit.edu 37 9 34649471 34649471 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:34649471C>T uc003zve.3 + 9 1036 c.969C>T c.(967-969)taC>taT p.Y323Y GALT_uc003zvf.3_Silent_p.Y214Y|IL11RA_uc003zvi.3_5'Flank|IL11RA_uc011loq.2_5'Flank NM_000155 NP_000146 P07902 GALT_HUMAN Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA. 323 Y -> D (in GALCT).|Y -> H (in GALCT). galactose catabolic process cytosol UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1) 16 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) CTCATTACTACCCTCCGCTCC 0.587000 Galactosemia 122 20 0 0 1 0 0 SDPR 8436 broad.mit.edu 37 2 192701440 192701440 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:192701440C>T uc002utb.3 - 1 842 c.487G>A c.(487-489)Gaa>Aaa p.E163K NM_004657 NP_004648 O95810 SDPR_HUMAN Homo sapiens serum deprivation response (SDPR), mRNA. 163 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) ATCTCATTTTCCTCCTGAAAA 0.468000 21 4 0 0 1 0 0 KLHL18 23276 broad.mit.edu 37 3 47385231 47385231 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:47385231C>T uc003crd.3 + 9 1651 c.1525C>T c.(1525-1527)Ccc>Tcc p.P509S KLHL18_uc011bav.2_Missense_Mutation_p.P397S NM_025010 NP_079286 O94889 KLH18_HUMAN Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA. 509 endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) CCTGATTGTCCCCATGCACAC 0.617000 93 8 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140202182 140202182 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140202182G>A uc003lhl.2 + 0 822 c.822G>A c.(820-822)aaG>aaA p.K274K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.K274K|PCDHAC2_uc003lhj.1_Silent_p.K274K NM_018908 NP_061731 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA. 290 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATCAATAAGGAAATAGTGT 0.328000 60 4 0 0 1 0 0 C8orf47 203111 broad.mit.edu 37 8 99102183 99102183 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:99102183G>A uc003yih.1 + 1 1086 c.938G>A c.(937-939)cGa>cAa p.R313Q C8orf47_uc022ayz.1_Intron NM_173549 NP_775820 Q6P6B1 CH047_HUMAN Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA. 313 Glu-rich. p.R313Q(4) kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2) 13 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) CATCCAGCACGAAATGTAGAG 0.438000 118 4 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059114 152059114 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:152059114C>T uc001ezo.1 - 2 1109 c.1044G>A c.(1042-1044)aaG>aaA p.K348K NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA. 348 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CACCCAAATTCTTTGTTTTAG 0.423000 210 11 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121500260 121500260 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:121500260G>A uc001pxx.3 + 47 6762 c.6633G>A c.(6631-6633)atG>atA p.M2211I SORL1_uc010rzp.1_Missense_Mutation_p.M1057I|SORL1_uc010rzq.1_Missense_Mutation_p.M826I NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 2211 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ACGTCCCCATGGTGATAGCCT 0.383000 76 10 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42003946 42003946 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:42003946G>A uc011kbh.2 - 14 4816 c.4725C>T c.(4723-4725)ttC>ttT p.F1575F GLI3_uc011kbg.2_Silent_p.F1516F NM_000168 NP_000159 P10071 GLI3_HUMAN Homo sapiens GLI family zinc finger 3 (GLI3), mRNA. 1575 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 TAACTGCAAGGAATTTGCTTT 0.458000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 45 5 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158261127 158261127 + Missense_Mutation SNP C T T rs145638725 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:158261127C>T uc001fru.3 + 1 557 c.265C>T c.(265-267)Cgt>Tgt p.R89C CD1C_uc021pbl.1_5'Flank NM_001765 NP_001756 P29017 CD1C_HUMAN Homo sapiens CD1c molecule (CD1C), mRNA. 89 T cell activation involved in immune response|antigen processing and presentation endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding p.R89C(2) NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) GTTGTTATTTCGTTTCTACCT 0.398000 87 6 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35065841 35065841 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:35065841G>A uc003jjm.3 - 9 1778 c.1219C>T c.(1219-1221)Cat>Tat p.H407Y PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.H306Y|PRLR_uc021xxl.1_Intron NM_000949 NP_000940 P16471 PRLR_HUMAN Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA. 407 T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CCACCAGCATGAAAATAGGGG 0.493000 203 17 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107977073 107977073 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:107977073T>C uc004eoc.2 - 0 2535 c.2502A>G c.(2500-2502)ggA>ggG p.G834G NM_003604 NP_003595 O14654 IRS4_HUMAN Homo sapiens insulin receptor substrate 4 (IRS4), mRNA. 834 plasma membrane SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity p.G834R(1) NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CCAGGAACTTTCCAGGTAACA 0.493000 159 36 0 0 1 0 0 TGM2 7052 broad.mit.edu 37 20 36760865 36760865 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:36760865G>A uc002xhr.3 - 10 1753 c.1653C>T c.(1651-1653)taC>taT p.Y551Y TGM2_uc002xhq.3_Silent_p.Y152Y|TGM2_uc010zvx.2_Silent_p.Y470Y|TGM2_uc010zvy.2_Silent_p.Y491Y|TGM2_uc002xhs.1_Silent_p.Y527Y NM_004613 NP_004604 P21980 TGM2_HUMAN Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA. 551 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) GGCAGTCACGGTATTTCTCAT 0.547000 318 37 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61828496 61828496 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:61828496G>A uc001jky.3 - 36 12481 c.12143C>T c.(12142-12144)tCg>tTg p.S4048L ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 4048 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CGTTGTAACCGAAGGCTGGCC 0.473000 105 11 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42046804 42046804 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:42046804G>A uc001cgz.4 - 3 4878 c.3665C>T c.(3664-3666)tCc>tTc p.S1222F HIVEP3_uc001cha.4_Missense_Mutation_p.S1222F|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 1222 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGGGAGGAAGGAAGGGGGCTG 0.592000 98 9 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132530313 132530313 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:132530313C>T uc001ujn.3 + 38 7220 c.7068C>T c.(7066-7068)atC>atT p.I2356I EP400_uc021rgq.1_Silent_p.I2355I|EP400_uc001ujm.3_Silent_p.I2275I NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 2392 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.I2355I(2)|p.V2356M(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) ACCTCACAATCGTGTCACCTG 0.478000 44 5 0 0 1 0 0 OR52D1 390066 broad.mit.edu 37 11 5510223 5510223 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:5510223C>T uc010qzg.2 + 0 309 c.287C>T c.(286-288)tCc>tTc p.S96F HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA. 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTGAGATTTCCTTTGGTGGA 0.498000 38 3 0 0 1 0 0 ABRA 137735 broad.mit.edu 37 8 107782054 107782054 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:107782054C>T uc003ymm.4 - 0 419 c.365G>A c.(364-366)gGg>gAg p.G122E NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN Homo sapiens actin-binding Rho activating protein (ABRA), mRNA. 122 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) GCTCACGTCCCCTCCTCTCTC 0.532000 132 17 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169637340 169637340 + Silent SNP C T T rs151002058 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:169637340C>T uc003fgd.3 + 2 321 c.54C>T c.(52-54)atC>atT p.I18I SAMD7_uc003fge.3_Silent_p.I18I|SAMD7_uc011bpo.2_5'UTR NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 18 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) TCCCACTGATCCCCTCACCAT 0.428000 134 10 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196799344 196799344 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:196799344C>T uc002utj.4 - 20 3543 c.3442G>A c.(3442-3444)Gag>Aag p.E1148K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1148 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATAACTCTCTCTAATTCAACC 0.368000 164 16 0 0 1 0 0 LOC729862 729862 broad.mit.edu 37 5 28927365 28927365 + RNA SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:28927365G>A uc003jgz.1 + 0 c.389G>A Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA. CAGTTAATGTGAAAACAAGGT 0.448000 115 5 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183245366 183245366 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:183245366G>A uc003ivd.1 + 0 268 c.193G>A c.(193-195)Gat>Aat p.D65N ODZ3_uc021xux.1_Missense_Mutation_p.D65N|ODZ3_uc010irv.1_Missense_Mutation_p.D65N NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 65 Teneurin N-terminal. signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CAGAGTGAAGGATTTGGTTCA 0.478000 60 6 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52551896 52551896 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:52551896G>A uc003dej.3 + 45 4713 c.4639_splice c.e45-1 p.N1547_splice STAB1_uc003dek.1_5'Flank NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 1547 EGF-like 13. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CCCTGACTCAGAACAATGGAG 0.587000 86 6 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128694744 128694744 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:128694744C>T uc010lly.2 - 0 484 c.81G>A c.(79-81)aaG>aaA p.K27K TNPO3_uc003vol.2_Silent_p.K27K|TNPO3_uc010llz.2_Silent_p.K27K|TNPO3_uc003vom.2_5'UTR|TPI1P2_uc003von.2_5'Flank NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA. 27 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 AGGCGCGCTCCTTTCCGCTGG 0.652000 30 5 0 0 1 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12836053 12836053 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:12836053C>T uc001aui.3 + 1 682 c.655C>T c.(655-657)Ctt>Ttt p.L219F NM_001080830 NP_001074299 O95522 PRA12_HUMAN Homo sapiens PRAME family member 12 (PRAMEF12), mRNA. 219 p.L219F(2) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCTGTCCATTCTTATAAGGTT 0.517000 156 13 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58589330 58589330 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:58589330G>A uc002env.3 - 20 3009 c.2716C>T c.(2716-2718)Cct>Tct p.P906S CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P901S|CNOT1_uc002enx.3_Missense_Mutation_p.P906S|CNOT1_uc002enz.1_Missense_Mutation_p.P335S NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA. 906 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TCTTTATCAGGATACTGGGGA 0.383000 113 6 0 0 1 0 0 CHPF2 54480 broad.mit.edu 37 7 150934798 150934798 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:150934798G>A uc003wjr.1 + 3 2863 c.1350G>A c.(1348-1350)ttG>ttA p.L450L CHPF2_uc003wjq.1_Silent_p.L442L|CHPF2_uc022aqb.1_5'Flank NM_019015 NP_061888 Q9P2E5 CHPF2_HUMAN Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA. 450 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 ACCTGCTGTTGGAATGTGTGA 0.647000 116 9 0 0 1 0 0 C1orf100 200159 broad.mit.edu 37 1 244541927 244541927 + Missense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:244541927C>A uc001iah.3 + 3 424 c.311C>A c.(310-312)cCa>cAa p.P104Q C1orf100_uc001iai.3_Missense_Mutation_p.P72Q NM_001012970 NP_001012988 Q5SVJ3 CA100_HUMAN Homo sapiens chromosome 1 open reading frame 100 (C1orf100), mRNA. 104 endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1) 7 all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103) all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984) TATTCTCTGCCATTTTATGAG 0.448000 108 9 1.61879e-10 1.63667e-10 1 1 0 FAM75A6 389730 broad.mit.edu 37 9 43630623 43630623 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:43630623C>T uc011lrb.2 - 0 108 c.79G>A c.(79-81)Gat>Aat p.D27N NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA. 27 integral to membrane breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1) 54 AGGAAGATATCCAACACCCAT 0.483000 55 16 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98408569 98408569 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:98408569C>T uc001kmq.3 - 6 1160 c.1032G>A c.(1030-1032)gcG>gcA p.A344A PIK3AP1_uc001kmp.3_Silent_p.A166A NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA. 344 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) GTCCATACTTCGCAGCAAAAT 0.512000 53 4 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94643546 94643546 + Silent SNP G A A rs139806754 by1000genomes TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:94643546G>A uc001dqj.4 - 20 3027 c.2658C>T c.(2656-2658)ttC>ttT p.F886F ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Silent_p.F452F NM_004815 NP_004806 Q52LW3 RHG29_HUMAN Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA. 886 Rho-GAP. Rho protein signal transduction cytosol Rho GTPase activator activity|metal ion binding NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) GGGACCCATCGAAGATCTTCT 0.443000 94 9 0 0 1 0 0 SNX20 124460 broad.mit.edu 37 16 50707795 50707795 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:50707795C>T uc002egk.2 - 3 646 c.473G>A c.(472-474)cGg>cAg p.R158Q SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron NM_182854 NP_878274 Q7Z614 SNX20_HUMAN Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA. 158 PX. cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1) 15 CAGGGCGCGCCGACGCTCACA 0.642000 44 6 0 0 1 0 0 NGB 58157 broad.mit.edu 37 14 77732921 77732921 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:77732921C>T uc001xtg.1 - 3 789 c.414G>A c.(412-414)ggG>ggA p.G138G NM_021257 NP_067080 Q9NPG2 NGB_HUMAN Homo sapiens neuroglobin (NGB), mRNA. 138 Globin. hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0273) GCACTACGGCCCCGTAGAGTT 0.627000 82 6 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 10755512 10755512 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:10755512G>A uc003wtk.1 - 2 1903 c.1876C>T c.(1876-1878)Cga>Tga p.R626* NM_173683 NP_775954 Q5GH73 XKR6_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA. 626 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GGTCCGTCTCGATATCGAATG 0.473000 114 13 0 0 1 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835722 12835722 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:12835722G>A uc001aui.3 + 1 351 c.324G>A c.(322-324)gtG>gtA p.V108V NM_001080830 NP_001074299 O95522 PRA12_HUMAN Homo sapiens PRAME family member 12 (PRAMEF12), mRNA. 108 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGCGGAATGTGGATGAGAACT 0.527000 252 16 0 0 1 0 0 RCAN2 10231 broad.mit.edu 37 6 46214568 46214568 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:46214568G>A uc003oyc.2 - 3 641 c.488C>T c.(487-489)cCa>cTa p.P163L RCAN2_uc003oyb.2_Missense_Mutation_p.P117L|RCAN2_uc003oyd.2_Missense_Mutation_p.P163L NM_001251974 NP_001238903 Q14206 RCAN2_HUMAN Homo sapiens regulator of calcineurin 2 (RCAN2), transcript variant 2, mRNA. 117 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding p.H163H(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 GCCAACAGGTGGGGAGGAAGG 0.547000 38 6 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110828825 110828825 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:110828825C>T uc001vqw.4 - 35 3126 c.3004G>A c.(3004-3006)Ggt>Agt p.G1002S NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 1002 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCTGGAGCACCTGGGGTTCCA 0.488000 95 4 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43173000 43173000 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:43173000G>A uc003ouk.3 + 24 4708 c.4633_splice c.e24-1 p.M1545_splice CUL9_uc003oul.3_Splice_Site_p.M1545_splice|CUL9_uc010jyk.3_Splice_Site_p.M697_splice NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN Homo sapiens cullin 9 (CUL9), mRNA. 1545 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CCTGCCCCCAGATGAGTGAGC 0.567000 347 26 0 0 1 0 0 CYP8B1 1582 broad.mit.edu 37 3 42916461 42916461 + Missense_Mutation SNP G T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:42916461G>T uc003cmh.3 - 0 1173 c.848C>A c.(847-849)tCc>tAc p.S283Y CCBP2_uc003cmg.3_Intron NM_004391 NP_004382 Q9UNU6 CP8B1_HUMAN Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA. 283 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) GTTCCCCTGGGAGGCCCAGAG 0.582000 23 5 0.217242 0.217463 1 1 0 ITPR1 3708 broad.mit.edu 37 3 4810403 4810403 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:4810403C>T uc003bqc.3 + 44 6239 c.5889C>T c.(5887-5889)ctC>ctT p.L1963L ITPR1_uc021wsi.1_Silent_p.L1930L|ITPR1_uc021wsj.1_Silent_p.L1915L|ITPR1_uc011asu.2_Intron NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 1978 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AGCCCATCCTCCGCTTCCTTC 0.642000 115 18 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38891817 38891817 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:38891817C>T uc021yzh.1 + 72 10950 c.10841C>T c.(10840-10842)cCt>cTt p.P3614L DNAH8_uc003ooe.2_Missense_Mutation_p.P3397L|LOC100131047_uc003oof.2_Intron NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TACCTTGGTCCTTTCAATCAG 0.413000 82 4 0 0 1 0 0 EIF4B 1975 broad.mit.edu 37 12 53431199 53431199 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:53431199G>A uc001sbh.4 + 10 1519 c.1313G>A c.(1312-1314)cGa>cAa p.R438Q EIF4B_uc010snu.2_Missense_Mutation_p.R443Q|EIF4B_uc010snv.2_Missense_Mutation_p.R399Q NM_001417 NP_001408 P23588 IF4B_HUMAN Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA. 438 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity p.A437V(1) breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 ACAGATGCACGAAGGAGAGAG 0.448000 22 5 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68139057 68139057 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:68139057C>T uc009xpn.1 - 11 1708 c.1585G>A c.(1585-1587)Gat>Aat p.D529N CTNNA3_uc001jmw.2_Missense_Mutation_p.D529N NM_001127384 NP_037398 Q9UI47 CTNA3_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA. 529 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity p.Q528K(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TTATCAGCATCCTGGTCTCTT 0.458000 51 7 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32739085 32739085 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:32739085C>T uc003jhv.3 + 2 1453 c.1008C>T c.(1006-1008)tcC>tcT p.S336S NPR3_uc010iuo.3_Silent_p.S120S|NPR3_uc003jhw.2_Silent_p.S120S|NPR3_uc003jhu.3_Silent_p.S336S NM_001204375 NP_001191304 P17342 ANPRC_HUMAN Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA. 336 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) AGAAGTTTTCCATGGAGGTGA 0.443000 73 8 0 0 1 0 0 FBXO15 201456 broad.mit.edu 37 18 71740901 71740901 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:71740901G>A uc002llf.2 - 9 1408 c.1328C>T c.(1327-1329)tCc>tTc p.S443F FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Missense_Mutation_p.S367F NM_001142958 NP_689889 Q8NCQ5 FBX15_HUMAN Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA. 367 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) GCACACCGGGGAACTGAAACA 0.478000 183 17 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140751953 140751953 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140751953C>T uc003ljw.2 + 0 1992 c.1992C>T c.(1990-1992)ttC>ttT p.F664F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.F664F|PCDHGC5_uc011dau.2_5'Flank NM_018924 NP_061747 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA. 666 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTAATCTTCGCAGATAGCT 0.607000 95 5 0 0 1 0 0 OR13G1 441933 broad.mit.edu 37 1 247836167 247836167 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:247836167G>A uc001idi.1 - 0 177 c.177C>T c.(175-177)ttC>ttT p.F59F NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA. 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F59L(4) endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.017) GTGTCAGAAGGAAAACATACA 0.418000 28 4 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7635323 7635323 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:7635323C>T uc001qsz.3 - 13 3291 c.3163G>A c.(3163-3165)Ggg>Agg p.G1055R CD163_uc001qta.3_Missense_Mutation_p.G1055R|CD163_uc009zfw.2_Missense_Mutation_p.G1088R NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 1055 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CCAAGGATCCCGACTGCAATA 0.423000 69 4 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56953700 56953700 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:56953700G>A uc002qne.3 - 6 1455 c.664C>T c.(664-666)Cat>Tat p.H222Y ZNF667_uc010etl.3_Missense_Mutation_p.H4Y|ZNF667_uc002qnd.3_Missense_Mutation_p.H222Y|ZNF667_uc010etm.3_Missense_Mutation_p.H165Y NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA. 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) TTTCCATCATGAATTCTCATA 0.378000 73 9 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28377941 28377941 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:28377941C>T uc001zbj.3 - 79 12372 c.12266G>A c.(12265-12267)aGa>aAa p.R4089K NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 4089 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TTCAATTCCTCTCAGAGACTC 0.507000 164 15 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20676352 20676352 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:20676352G>A uc001mqd.3 + 15 2605 c.2332G>A c.(2332-2334)Gga>Aga p.G778R SLC6A5_uc009yic.3_Missense_Mutation_p.G543R NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA. 778 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity p.G778E(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) CGACCCCTTGGGAACCTCTTC 0.547000 171 7 0 0 1 0 0 PTGER3 5733 broad.mit.edu 37 1 71318539 71318539 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:71318539C>T uc001dfk.1 - 3 1339 c.1108G>A c.(1108-1110)Gaa>Aaa p.E370K PTGER3_uc001dfg.1_3'UTR|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Missense_Mutation_p.E361K NM_198716 NP_942009 P43115 PE2R3_HUMAN Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA. 0 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) CCCCAAAATTCCTCCTGGAAA 0.323000 189 23 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40055757 40055757 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:40055757C>T uc003ayc.3 + 13 2504 c.2504C>T c.(2503-2505)tCt>tTt p.S835F CACNA1I_uc003ayd.3_Missense_Mutation_p.S800F|CACNA1I_uc003aye.3_Missense_Mutation_p.S750F|CACNA1I_uc003ayf.3_Missense_Mutation_p.S715F NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 835 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GCCTCCACTTCTCCCTGGGCC 0.597000 201 12 0 0 1 0 0 KHDRBS3 10656 broad.mit.edu 37 8 136554981 136554981 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:136554981C>T uc003yuv.3 + 2 686 c.292C>T c.(292-294)Ctt>Ttt p.L98F KHDRBS3_uc003yuw.3_Missense_Mutation_p.L98F NM_006558 NP_006549 O75525 KHDR3_HUMAN Homo sapiens KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3), mRNA. 98 KH. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 26 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) AATGTCCATCCTTGGGAAAGG 0.368000 63 4 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128505667 128505667 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:128505667C>T uc003qbk.3 - 6 1439 c.1072G>A c.(1072-1074)Gaa>Aaa p.E358K PTPRK_uc010kfc.3_Missense_Mutation_p.E358K|PTPRK_uc003qbj.3_Missense_Mutation_p.E358K|PTPRK_uc011ebu.2_Missense_Mutation_p.E358K|PTPRK_uc003qbl.1_Missense_Mutation_p.E228K|PTPRK_uc011ebv.1_Missense_Mutation_p.E358K NM_002844 NP_002835 Q15262 PTPRK_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA. 358 Fibronectin type-III 1. cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ATCTCATATTCGGTATCTGGA 0.458000 116 15 0 0 1 0 0 AHSP 51327 broad.mit.edu 37 16 31539992 31539992 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:31539992C>T uc002ecj.3 + 2 374 c.289C>T c.(289-291)Cac>Tac p.H97Y NM_016633 NP_057717 Q9NZD4 AHSP_HUMAN Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA. 97 hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization hemoglobin complex hemoglobin binding|unfolded protein binding lung(2) 2 GCTCCCGAGTCACCCACCGCC 0.582000 23 4 0 0 1 0 0 ANXA13 312 broad.mit.edu 37 8 124748074 124748074 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:124748074T>C uc003yqt.3 - 1 132 c.59A>G c.(58-60)aAa>aGa p.K20R ANXA13_uc003yqu.3_Intron NM_001003954 NP_001003954 P27216 ANX13_HUMAN Homo sapiens annexin A13 (ANXA13), transcript variant 2, mRNA. 0 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) GGAGTCCCCTTTAGGCAACTG 0.522000 70 8 0 0 1 0 0 PPP1R14A 94274 broad.mit.edu 37 19 38743542 38743542 + Missense_Mutation SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:38743542T>G uc002ohq.3 - 1 526 c.274A>C c.(274-276)Aaa>Caa p.K92Q PPP1R14A_uc010efv.3_Intron NM_033256 NP_150281 Q96A00 PP14A_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14A (PPP1R14A), transcript variant 1, mRNA. 92 Inhibitory. regulation of phosphorylation cytoplasm protein binding|protein phosphatase inhibitor activity lung(1) 1 all_cancers(60;9.57e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) ACCTGGATTTTCCGGCTTCTC 0.512000 279 46 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200969850 200969850 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:200969850C>T uc001gvs.2 - 9 1778 c.1461G>A c.(1459-1461)gaG>gaA p.E487E KIF21B_uc009wzl.2_Silent_p.E487E|KIF21B_uc001gvr.2_Silent_p.E487E|KIF21B_uc010ppn.2_Silent_p.E487E NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 487 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.E486K(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CTCACCGTAGCTCCTCGATCT 0.637000 92 7 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142562191 142562191 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142562191G>A uc011kst.2 + 6 1420 c.633G>A c.(631-633)gtG>gtA p.V211V EPHB6_uc011ksu.2_Silent_p.V211V|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_Intron|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank NM_004445 NP_004436 O15197 EPHB6_HUMAN Homo sapiens EPH receptor B6 (EPHB6), mRNA. 211 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GCTTCTACGTGGCCTTCCAGG 0.652000 216 24 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6692978 6692979 + Missense_Mutation DNP CC AT AT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:6692978_6692979CC>AT uc002mfm.3 - 25 3408_3409 c.3346_3347GG>AT c.(3346-3348)ggg>ATg p.G1116M NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 1116 G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding p.G1116R(2)|p.D1115H(1) breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTGGAAGACCCCGTCGGGCTTC 0.554000 163 11 0 0 1 0 0 DIAPH3 81624 broad.mit.edu 37 13 60240893 60240893 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:60240893A>G uc001vht.3 - 27 3626 c.3407T>C c.(3406-3408)cTt>cCt p.L1136P DIAPH3_uc001vhs.3_Non-coding_Transcript NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA. 1136 actin cytoskeleton organization Rho GTPase binding|actin binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) ATTATAATTAAGCTCCTTGGC 0.418000 102 16 0 0 1 0 0 OR2F1 26211 broad.mit.edu 37 7 143657112 143657112 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:143657112C>T uc003wds.1 + 0 93 c.49C>T c.(49-51)Ctg>Ttg p.L17L NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) TCTCCTCGGCCTGTCCAGTGA 0.453000 197 14 0 0 1 0 0 HEATR8 374977 broad.mit.edu 37 1 55174706 55174706 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:55174706G>A uc010ooe.1 + 22 4011 c.3687G>A c.(3685-3687)atG>atA p.M1229I HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Missense_Mutation_p.M747I|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.M430I NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA. 1229 integral to membrane binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TCCCCTGCATGGAGAGCATAA 0.517000 171 22 0 0 1 0 0 PCBP2 5094 broad.mit.edu 37 12 53865470 53865470 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:53865470C>T uc001sdl.4 + 13 1290 c.940C>T c.(940-942)Cgt>Tgt p.R314C PCBP2_uc001sde.4_Missense_Mutation_p.R310C|PCBP2_uc001sdi.4_Missense_Mutation_p.R284C|PCBP2_uc001sdd.4_Missense_Mutation_p.R280C|PCBP2_uc001sdf.4_Missense_Mutation_p.R267C|PCBP2_uc001sdc.4_Missense_Mutation_p.R315C|PCBP2_uc001sdb.4_Missense_Mutation_p.R311C|PCBP2_uc010soi.2_Missense_Mutation_p.R52C|PCBP2_uc010soj.2_Missense_Mutation_p.R64C|PCBP2_uc001sdk.4_Missense_Mutation_p.R87C NM_001128911 NP_001122383 Q15366 PCBP2_HUMAN Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA. 314 KH 3. innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 CAATGAGATCCGTCAGATGTC 0.498000 35 4 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98164926 98164926 + Missense_Mutation SNP C T T rs146170505 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:98164926C>T uc001drv.3 - 5 798 c.661G>A c.(661-663)Gaa>Aaa p.E221K DPYD_uc010oub.1_Non-coding_Transcript NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 221 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CCAACATATTCTTGTTTTTCA 0.353000 88 13 0 0 1 0 0 MOGAT3 346606 broad.mit.edu 37 7 100841484 100841484 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:100841484G>A uc003uyc.3 - 4 823 c.656C>T c.(655-657)gCg>gTg p.A219V MOGAT3_uc010lhr.3_Missense_Mutation_p.A219V NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA. 219 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) GTGCCTCAGCGCCAGGCGCAC 0.642000 73 4 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23911713 23911713 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:23911713G>A uc001uon.2 - 9 6891 c.6302C>T c.(6301-6303)tCc>tTc p.S2101F SACS_uc001uoo.2_Missense_Mutation_p.S1954F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 2101 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CCCCTCCAAGGAACAAGGAAT 0.398000 41 3 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31146129 31146129 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:31146129G>A uc003tca.2 + 15 1527 c.1238G>A c.(1237-1239)cGa>cAa p.R413Q ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.R441Q|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.R440Q|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.R392Q|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.R441Q NM_001118 NP_001109 P41586 PACR_HUMAN Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA. 413 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 GAGATCAAGCGAAAATGGCGA 0.612000 92 20 0 0 1 0 0 SRSF7 6432 broad.mit.edu 37 2 38976768 38976768 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:38976768G>A uc002rqz.3 - 2 527 c.289C>T c.(289-291)Cga>Tga p.R97* SRSF7_uc010ynp.2_Nonsense_Mutation_p.R97*|SRSF7_uc002rra.3_Non-coding_Transcript|GEMIN6_uc002rrb.3_5'Flank NM_001031684 NP_001026854 Q16629 SRSF7_HUMAN Homo sapiens serine/arginine-rich splicing factor 7 (SRSF7), transcript variant 1, mRNA. 97 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm RNA binding|nucleotide binding|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 AAGGGACGTCGGGCAGGTGGT 0.463000 123 18 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103557529 103557529 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:103557529G>A uc022ajr.1 - 1 490 c.330C>T c.(328-330)ttC>ttT p.F110F RELN_uc022ajq.1_Silent_p.F110F|RELN_uc010liz.3_Silent_p.F110F NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 110 Reelin. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TACCAAATCCGAAAGCACTGG 0.393000 100 12 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80327916 80327916 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:80327916G>A uc003hlu.3 - 0 1457 c.1439C>T c.(1438-1440)tCa>tTa p.S480L NM_033214 NP_149991 Q14410 GLPK2_HUMAN Homo sapiens glycerol kinase 2 (GK2), mRNA. 480 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 CCTGAGAACTGACAAAGCCTG 0.493000 115 6 0 0 1 0 0 FAM170A 340069 broad.mit.edu 37 5 118970044 118970044 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:118970044G>A uc003ksm.2 + 2 811 c.601G>A c.(601-603)Gac>Aac p.D201N FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Missense_Mutation_p.D201N|FAM170A_uc003kso.3_Missense_Mutation_p.D154N NM_182761 NP_877438 A1A519 F170A_HUMAN Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA. 201 intracellular zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 GACAGAATCAGACAGCCTGCC 0.587000 98 5 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77415188 77415188 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:77415188C>T uc004ajl.1 - 16 2458 c.2220G>A c.(2218-2220)agG>agA p.R740R TRPM6_uc004ajk.1_Silent_p.R735R|TRPM6_uc022bib.1_Silent_p.R735R|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 740 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 AAGAGTTTTTCCTCATTTTCA 0.393000 44 5 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65165729 65165729 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:65165729C>T uc003hcv.3 - 7 846 c.737G>A c.(736-738)gGa>gAa p.G246E NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA. 246 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 TTGCCTGTTTCCAAATGCTGG 0.299000 113 11 0 0 1 0 0 MORF4L1 10933 broad.mit.edu 37 15 79186450 79186450 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:79186450T>C uc002bel.3 + 10 985 c.797T>C c.(796-798)gTa>gCa p.V266A MORF4L1_uc002bem.3_Missense_Mutation_p.V227A|MORF4L1_uc010une.2_Missense_Mutation_p.V139A NM_206839 NP_996670 Q9UBU8 MO4L1_HUMAN Homo sapiens mortality factor 4 like 1 (MORF4L1), transcript variant 2, mRNA. 266 Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A. double-strand break repair via homologous recombination|histone H2A acetylation|histone H4 acetylation|histone deacetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 TACTTCAACGTAATGTTGGGT 0.403000 139 15 0 0 1 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751407 26751407 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:26751407G>A uc003cdp.3 + 1 833 c.244G>A c.(244-246)Gaa>Aaa p.E82K LRRC3B_uc003cdq.3_Missense_Mutation_p.E82K|LRRC3B_uc021wuj.1_Missense_Mutation_p.E82K NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA. 82 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 TATTCCCAATGAAATTTTTAA 0.408000 27 4 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140764916 140764916 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140764916C>T uc003ljz.1 + 0 2450 c.2450C>T c.(2449-2451)cCa>cTa p.P817L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'Flank|PCDHGC5_uc003lkc.2_5'Flank NM_032087 NP_114476 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 2, mRNA. 0 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTTTATTTCCATGAGGAATT 0.318000 22 5 0 0 1 0 0 CTSD 1509 broad.mit.edu 37 11 1775299 1775299 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:1775299G>A uc001luc.2 - 6 1030 c.897C>T c.(895-897)tcC>tcT p.S299S MOB2_uc001ltq.2_Intron NM_001909 NP_001900 P07339 CATD_HUMAN Homo sapiens cathepsin D (CTSD), mRNA. 299 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(8) 13 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCACCATGAGGGAAGTGCCTG 0.706000 41 3 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54785277 54785277 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:54785277G>A uc004dtj.2 - 7 1260 c.1230C>T c.(1228-1230)atC>atT p.I410I NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA. 410 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.I410I(1) CATTGGAGAGGATCACACTGG 0.627000 34 7 0 0 1 0 0 GBP7 388646 broad.mit.edu 37 1 89618020 89618020 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:89618020C>T uc001dna.2 - 4 695 c.556G>A c.(556-558)Gag>Aag p.E186K GBP2_uc001dmy.1_5'Flank NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN Homo sapiens guanylate binding protein 7 (GBP7), mRNA. 186 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) AACTTCAGCTCCAGGGTAAAA 0.478000 109 17 0 0 1 0 0 SH3D19 152503 broad.mit.edu 37 4 152096067 152096067 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:152096067G>A uc010ipl.1 - 6 1539 c.449C>T c.(448-450)tCc>tTc p.S150F SH3D19_uc003imc.2_Missense_Mutation_p.S150F|SH3D19_uc003ime.2_Missense_Mutation_p.S150F|SH3D19_uc010ipm.2_Missense_Mutation_p.S150F NM_001009555 NP_001009555 Q5HYK7 SH319_HUMAN Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA. 150 Pro-rich. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport Golgi apparatus|cytosol|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) GTTTTCTGAGGAAACAGATTT 0.562000 185 11 0 0 1 0 0 SPANXN3 139067 broad.mit.edu 37 X 142596669 142596669 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:142596669G>A uc004fbw.3 - 1 489 c.401C>T c.(400-402)tCt>tTt p.S134F NM_001009609 NP_001009609 Q5MJ09 SPXN3_HUMAN Homo sapiens SPANX family, member N3 (SPANXN3), mRNA. 134 p.S134C(2) endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) GTCCTGTGAAGATCCTTCAGA 0.443000 42 4 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124189925 124189925 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:124189925G>A uc010sah.2 - 0 169 c.169C>T c.(169-171)Cct>Tct p.P57S NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA. 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TACACTGGAGGGTAAAGTTGA 0.438000 53 6 0 0 1 0 0 OSBPL7 114881 broad.mit.edu 37 17 45888202 45888202 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:45888202C>T uc002ilx.1 - 17 1941 c.1738_splice c.e17-1 p.V580_splice OSBPL7_uc002ilw.1_Splice_Site_p.V142_splice NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA. 580 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 GGTGGGAGACCTTGGTGAGCA 0.587000 34 3 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369306 86369306 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:86369306G>A uc001vll.1 - 1 1797 c.1338C>T c.(1336-1338)gcC>gcT p.A446A SLITRK6_uc021rla.1_Silent_p.A446A NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA. 446 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TTTCCTTAATGGCATTGTATT 0.333000 42 4 0 0 1 0 0 OR6C4 341418 broad.mit.edu 37 12 55945401 55945401 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:55945401C>T uc010spp.2 + 0 391 c.391C>T c.(391-393)Ctg>Ttg p.L131L NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA. 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 CTTGCATTACCTGACTATTAT 0.453000 125 6 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36976627 36976627 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:36976627C>T uc010jwp.1 + 1 257 c.86C>T c.(85-87)cCc>cTc p.P29L FGD2_uc003onf.3_Missense_Mutation_p.P29L|FGD2_uc011dtu.1_Missense_Mutation_p.P29L|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA. 29 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 GAAGCAGCACCCAGAGGCCAG 0.627000 100 4 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14756823 14756823 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:14756823G>A uc003byy.3 + 8 1793 c.1341G>A c.(1339-1341)gaG>gaA p.E447E C3orf20_uc003byz.3_Silent_p.E325E|C3orf20_uc003bza.3_Silent_p.E325E|C3orf20_uc003bzb.1_5'UTR NM_032137 NP_001171887 Q8ND61 CC020_HUMAN Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA. 447 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 TCTTGGATGAGGAAGGTGGGA 0.537000 32 3 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106166531 106166531 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:106166531G>A uc001kyh.3 + 14 2370 c.2236G>A c.(2236-2238)Gaa>Aaa p.E746K NM_001008723 NP_001008723 Q5T655 CC147_HUMAN Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA. 746 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) AGAGGTGGTTGAAAAAGAGCT 0.458000 83 7 0 0 1 0 0 KLF4 9314 broad.mit.edu 37 9 110249759 110249759 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:110249759G>A uc004bdh.3 - 2 1510 c.889C>T c.(889-891)Ccc>Tcc p.P297S KLF4_uc004bdf.2_Missense_Mutation_p.P256S|KLF4_uc022blk.1_Intron|KLF4_uc004bdg.3_Missense_Mutation_p.P306S NM_004235 NP_004226 O43474 KLF4_HUMAN Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA. 306 Pro-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 CGCCCCAGGGGGAAGTCGTGT 0.682000 17 4 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106737216 106737216 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:106737216G>A uc001kyi.1 + 3 1146 c.919G>A c.(919-921)Gag>Aag p.E307K NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 307 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TCCCAAGCAAGAGGACTGGGT 0.453000 48 4 0 0 1 0 0 GPR65 8477 broad.mit.edu 37 14 88477392 88477392 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:88477392C>T uc021rxh.1 + 0 201 c.201C>T c.(199-201)ctC>ctT p.L67L GPR65_uc001xvv.3_Silent_p.L67L NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA. 67 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 CATTAACTCTCCCTTTATGGA 0.388000 92 11 0 0 1 0 0 HELLS 3070 broad.mit.edu 37 10 96333775 96333775 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:96333775C>T uc009xuo.3 + 7 641 c.536C>T c.(535-537)tCg>tTg p.S179L HELLS_uc001kjs.3_Missense_Mutation_p.S163L|HELLS_uc001kjt.3_Missense_Mutation_p.S179L|HELLS_uc009xul.3_Missense_Mutation_p.S179L|HELLS_uc009xum.3_Missense_Mutation_p.S179L|HELLS_uc009xun.3_Missense_Mutation_p.S55L|HELLS_uc001kju.3_5'UTR|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Missense_Mutation_p.S41L|HELLS_uc009xur.3_Non-coding_Transcript NM_018063 NP_060533 Q9NRZ9 HELLS_HUMAN Homo sapiens helicase, lymphoid-specific (HELLS), mRNA. 179 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) AATAAAGATTCGAATAGTATA 0.333000 113 13 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7759080 7759080 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:7759080G>A uc002cys.2 + 14 2006 c.1018G>A c.(1018-1020)Gac>Aac p.D340N RBFOX1_uc002cyt.2_Missense_Mutation_p.D313N|RBFOX1_uc010uxz.1_Missense_Mutation_p.D383N|RBFOX1_uc010uya.1_Silent_p.P314P|RBFOX1_uc010uyb.1_Missense_Mutation_p.D340N|RBFOX1_uc002cyw.2_Silent_p.P378P|RBFOX1_uc002cyy.2_Missense_Mutation_p.D361N|RBFOX1_uc002cyx.2_Missense_Mutation_p.D361N|RBFOX1_uc010uyc.1_Missense_Mutation_p.D334N NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA. 340 RNA splicing|RNA transport|mRNA processing nucleus|trans-Golgi network RNA binding|nucleotide binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 TTATGCTGCCGACCCCTACCA 0.473000 122 8 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37264597 37264597 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:37264597C>T uc022abv.1 - 8 1298 c.588G>A c.(586-588)tcG>tcA p.S196S ELMO1_uc011kbc.2_Silent_p.S100S|ELMO1_uc003tfk.2_Silent_p.S196S|ELMO1_uc010kxg.2_Silent_p.S196S NM_001206482 NP_001193411 Q92556 ELMO1_HUMAN Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA. 196 Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding p.S196S(2) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GCTGCAGGATCGAGATGTCTA 0.502000 37 3 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96019413 96019413 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:96019413C>T uc004ati.1 + 9 2374 c.2374C>T c.(2374-2376)Cct>Tct p.P792S WNK2_uc011lud.1_Missense_Mutation_p.P792S|WNK2_uc004atj.3_Missense_Mutation_p.P792S|WNK2_uc004atk.3_Missense_Mutation_p.P429S|WNK2_uc010mrc.1_Missense_Mutation_p.P740S NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 792 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 TGCTCAAGTCCCTCCGCAGGT 0.667000 35 8 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69949036 69949036 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:69949036C>T uc010kak.3 + 18 3008 c.2732C>T c.(2731-2733)tCc>tTc p.S911F BAI3_uc003pev.4_Missense_Mutation_p.S911F|BAI3_uc011dxx.2_Missense_Mutation_p.S117F NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 911 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TCTGAGAGATCCATAATACTA 0.363000 163 16 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39905798 39905798 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:39905798G>A uc010xuz.2 + 2 601 c.276G>A c.(274-276)gtG>gtA p.V92V TRNA_Ile_uc021uul.1_5'Flank|PLEKHG2_uc010xuy.2_Intron|PLEKHG2_uc002olj.3_Silent_p.V92V|PLEKHG2_uc010xva.2_5'Flank NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA. 92 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCTCTCCGGTGGGGATCCCAG 0.672000 17 3 0 0 1 0 0 ADAM32 203102 broad.mit.edu 37 8 39128403 39128403 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:39128403C>T uc003xmt.4 + 19 2416 c.2171C>T c.(2170-2172)tCg>tTg p.S724L ADAM32_uc011lch.2_Missense_Mutation_p.S625L|ADAM32_uc003xmu.4_Intron|ADAM32_uc003xmv.3_Intron NM_145004 NP_659441 Q8TC27 ADA32_HUMAN Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA. 724 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) AGATCTAAATCGGAAGGTAGC 0.289000 24 3 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179732789 179732789 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:179732789G>A uc002une.2 - 15 2656 c.2538C>T c.(2536-2538)tcC>tcT p.S846S CCDC141_uc002unf.1_Silent_p.S325S NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 271 Ig-like. protein binding p.S271S(1) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CGACTCCTAAGGAAAGGGCCA 0.507000 46 4 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155199981 155199981 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:155199981T>A uc021xge.1 - 22 4135 c.3858A>T c.(3856-3858)aaA>aaT p.K1286N PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.K1248N NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 1286 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CATCATCTGGTTTGGTTTTAG 0.478000 203 9 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103128671 103128671 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:103128671C>T uc002tbz.4 + 6 1955 c.1498C>T c.(1498-1500)Cac>Tac p.H500Y NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 500 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 GCTGATGGATCACTTAAAGGC 0.443000 136 8 0 0 1 0 0 TOMM40 10452 broad.mit.edu 37 19 45404058 45404058 + Missense_Mutation SNP C T T rs142412517 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:45404058C>T uc002paa.4 + 5 911 c.715C>T c.(715-717)Cgg>Tgg p.R239W TOMM40_uc002ozz.3_Missense_Mutation_p.R239W|TOMM40_uc002ozx.4_Missense_Mutation_p.R239W|TOMM40_uc002ozy.4_Missense_Mutation_p.R239W NM_001128917 NP_006105 O96008 TOM40_HUMAN Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast) (TOMM40), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 239 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) GGTCTACCACCGGCGGCCTGG 0.622000 72 8 0 0 1 0 0 TUBA4B 80086 broad.mit.edu 37 2 220135009 220135009 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:220135009C>T uc002vkv.1 + 2 309 c.144C>T c.(142-144)acC>acT p.T48T TUBA4B_uc002vku.3_Non-coding_Transcript Homo sapiens tubulin, alpha 4b (pseudogene) (TUBA4B), non-coding RNA. GCCACTACACCATTGGGAAGG 0.532000 23 3 0 0 1 0 0 DNAJB4 11080 broad.mit.edu 37 1 78479176 78479176 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:78479176G>A uc001dij.3 + 1 812 c.653G>A c.(652-654)aGa>aAa p.R218K DNAJB4_uc010orn.2_Missense_Mutation_p.R103K NM_007034 NP_008965 Q9UDY4 DNJB4_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 4 (DNAJB4), mRNA. 218 protein folding|response to heat|response to unfolded protein cytoplasm|plasma membrane heat shock protein binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 ACTTTTCCAAGAGAAGGAGAT 0.338000 44 7 0 0 1 0 0 HSD3B1 3283 broad.mit.edu 37 1 120056793 120056793 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:120056793G>A uc001ehv.1 + 3 792 c.647G>A c.(646-648)gGa>gAa p.G216E NM_000862 NP_000853 P14060 3BHS1_HUMAN Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA. 216 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) TCAAGTGTTGGAAAGTTCTCC 0.522000 58 5 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9577276 9577276 + Missense_Mutation SNP G A A rs150203893 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9577276G>A uc002mlp.1 - 9 2557 c.2347C>T c.(2347-2349)Cgt>Tgt p.R783C ZNF560_uc010dwr.1_Missense_Mutation_p.R677C NM_152476 NP_689689 Q96MR9 ZN560_HUMAN Homo sapiens zinc finger protein 560 (ZNF560), mRNA. 783 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TGTGCAATACGAGCTGAGAAA 0.418000 74 5 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92730652 92730652 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:92730652C>T uc003umf.3 - 2 5029 c.4759G>A c.(4759-4761)Gaa>Aaa p.E1587K SAMD9_uc003umg.3_Missense_Mutation_p.E1587K|SAMD9_uc022ahg.1_Missense_Mutation_p.E1587K NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 1587 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TAAACAATTTCAATGTCATAA 0.393000 127 15 0 0 1 0 0 PXMP4 11264 broad.mit.edu 37 20 32298412 32298412 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:32298412G>A uc002wzv.3 - 2 447 c.324C>T c.(322-324)gcC>gcT p.A108A PXMP4_uc002wzw.3_Intron|PXMP4_uc010zuh.2_Missense_Mutation_p.P115L NM_007238 NP_009169 Q9Y6I8 PXMP4_HUMAN Homo sapiens peroxisomal membrane protein 4, 24kDa (PXMP4), transcript variant 1, mRNA. 108 integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane protein transporter activity NS(1)|endometrium(2)|large_intestine(2)|lung(8) 13 CCCCGAGGAAGGCCGCCAGGA 0.562000 142 16 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33579230 33579230 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:33579230C>T uc001rll.1 - 1 649 c.352G>A c.(352-354)Gaa>Aaa p.E118K SYT10_uc009zju.1_5'UTR NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 118 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TTTTCATTTTCCTTAATTTCT 0.408000 69 9 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70847596 70847596 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:70847596G>A uc003pfc.1 + 18 1520 c.1403G>A c.(1402-1404)gGa>gAa p.G468E COL19A1_uc010kam.2_Missense_Mutation_p.G364E NM_001858 NP_001849 Q14993 COJA1_HUMAN Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA. 468 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GGACTACCAGGATTTCCAGGG 0.388000 106 7 0 0 1 0 0 PDCD7 10081 broad.mit.edu 37 15 65421405 65421405 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:65421405A>G uc002aol.3 - 1 1029 c.974T>C c.(973-975)tTg>tCg p.L325S NM_005707 NP_005698 Q8N8D1 PDCD7_HUMAN Homo sapiens programmed cell death 7 (PDCD7), mRNA. 325 apoptosis|induction of apoptosis|response to glucocorticoid stimulus U12-type spliceosomal complex endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 7 CAGTTTCCTCAATTTCTCCAA 0.478000 449 38 0 0 1 0 0 TDRD3 81550 broad.mit.edu 37 13 61102815 61102815 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:61102815C>T uc001vhz.4 + 10 1965 c.1177C>T c.(1177-1179)Cct>Tct p.P393S TDRD3_uc010aef.2_Missense_Mutation_p.P218S|TDRD3_uc001via.3_Missense_Mutation_p.P393S|TDRD3_uc010aeg.3_Missense_Mutation_p.P486S|TDRD3_uc001vib.4_Missense_Mutation_p.P392S NM_001146071 NP_110421 Q9H7E2 TDRD3_HUMAN Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA. 393 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) TACTTCATATCCTTTAGGTTC 0.373000 61 4 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28576904 28576904 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:28576904C>T uc002kwj.4 - 14 2501 c.2346G>A c.(2344-2346)atG>atA p.M782I DSC3_uc002kwi.4_Missense_Mutation_p.M782I NM_001941 NP_001932 Q14574 DSC3_HUMAN Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. 782 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TTCCTCCTTTCATCATTTCAA 0.498000 33 3 0 0 1 0 0 TTF2 8458 broad.mit.edu 37 1 117644132 117644132 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:117644132C>T uc001egy.3 + 22 3495 c.3475C>T c.(3475-3477)Ctt>Ttt p.L1159F NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA. 1159 RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) CCTCAGAGTCCTTTTTGGCAT 0.443000 230 14 0 0 1 0 0 GJB5 2709 broad.mit.edu 37 1 35223450 35223450 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:35223450G>A uc001bxu.3 + 1 619 c.519G>A c.(517-519)gtG>gtA p.V173V GJB5_uc021okz.1_Silent_p.V173V|GJB4_uc001bxv.1_5'Flank NM_005268 NP_005259 O95377 CXB5_HUMAN Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA. 173 cell communication|epidermis development connexon complex|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 Myeloproliferative disorder(586;0.0393) CCAATATAGTGGACTGCTTCA 0.512000 62 6 0 0 1 0 0 BIN1 274 broad.mit.edu 37 2 127821555 127821555 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:127821555C>T uc002tns.2 - 7 1036 c.652G>A c.(652-654)Gag>Aag p.E218K BIN1_uc010yzf.2_Missense_Mutation_p.E163K|BIN1_uc002tnt.2_Missense_Mutation_p.E187K|BIN1_uc010yzg.2_Missense_Mutation_p.E218K|BIN1_uc002tnu.2_Missense_Mutation_p.E187K|BIN1_uc002tnv.2_Missense_Mutation_p.E218K|BIN1_uc002tnw.2_Missense_Mutation_p.E187K|BIN1_uc002tnx.2_Missense_Mutation_p.E187K|BIN1_uc002tny.2_Missense_Mutation_p.E218K|BIN1_uc002tnz.2_Missense_Mutation_p.E187K|BIN1_uc002toa.2_Missense_Mutation_p.E187K|BIN1_uc002tob.2_Missense_Mutation_p.E187K|BIN1_uc002toc.2_Missense_Mutation_p.E187K NM_139343 NP_647593 O00499 BIN1_HUMAN Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA. 218 BAR. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) ACATTCATCTCCTCAAACACC 0.652000 115 11 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204120 9204120 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9204120C>T uc010xkj.2 + 0 200 c.200C>T c.(199-201)tCc>tTc p.S67F NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA. 67 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 GCCAACCTGTCCCTGGTTGAT 0.557000 147 16 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66883216 66883216 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:66883216G>A uc002jhq.3 - 25 3711 c.3371C>T c.(3370-3372)tCc>tTc p.S1124F ABCA8_uc002jhp.3_Missense_Mutation_p.S1084F|ABCA8_uc010wqq.2_Missense_Mutation_p.S1124F|ABCA8_uc010wqr.2_Missense_Mutation_p.S1063F NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 1084 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.I1124I(1) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) AAAGATGAAGGAAATCACGTA 0.333000 75 5 0 0 1 0 0 MOCS1 4337 broad.mit.edu 37 6 39874839 39874839 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:39874839C>T uc003opb.3 - 9 1343 c.1205G>A c.(1204-1206)tGg>tAg p.W402* MOCS1_uc003opa.3_3'UTR|MOCS1_uc003opd.3_3'UTR|MOCS1_uc003ope.3_Nonsense_Mutation_p.W299* NM_005943 NP_005934 Q9NZB8 MOCS1_HUMAN Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA. 402 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) GAGCGGGTCCCAGGAGAAAAT 0.498000 64 6 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65822412 65822412 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:65822412A>T uc002jgf.3 + 0 633 c.572A>T c.(571-573)gAa>gTa p.E191V BPTF_uc002jge.3_Missense_Mutation_p.E191V|BPTF_uc010wqm.1_Missense_Mutation_p.E191V NM_182641 NP_872579 Q12830 BPTF_HUMAN Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA. 191 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex|cytoplasm sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TACTGCACGGAAAGCAGCTTC 0.587000 97 5 0 0 1 0 0 MRPL20 55052 broad.mit.edu 37 1 1341166 1341167 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:1341166_1341167GG>AA uc010nyn.1 - 2 394_395 c.298_299CC>TT c.(298-300)cca>TTa p.P100L MRPL20_uc001afo.4_Intron NM_017971 NP_060441 Q9BYC9 RM20_HUMAN Homo sapiens mitochondrial ribosomal protein L20 (MRPL20), nuclear gene encoding mitochondrial protein, mRNA. 0 protein binding|rRNA binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GAATTTCAGTGGGACCCACATA 0.515000 150 29 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53203218 53203218 + Missense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:53203218C>A uc001saz.3 - 3 1005 c.1005G>T c.(1003-1005)aaG>aaT p.K335N NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN Homo sapiens keratin 4 (KRT4), mRNA. 261 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 GACTGTCCACCTTGGCCTCCA 0.547000 168 6 0.000157383 0.000158227 1 1 0 WDR49 151790 broad.mit.edu 37 3 167319987 167319987 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:167319987G>A uc003fev.1 - 2 484 c.180C>T c.(178-180)ggC>ggT p.G60G WDR49_uc011bpd.1_Silent_p.G113G|WDR49_uc003few.1_Silent_p.G401G NM_178824 NP_849146 Q8IV35 WDR49_HUMAN Homo sapiens WD repeat domain 49 (WDR49), mRNA. 60 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TGGCTGAGTGGCCCCAAAGGA 0.373000 49 8 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7324301 7324301 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:7324301C>T uc001mfe.3 + 1 414 c.177C>T c.(175-177)gtC>gtT p.V59V SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript NM_175733 NP_783860 Q86SS6 SYT9_HUMAN Homo sapiens synaptotagmin IX (SYT9), mRNA. 59 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) CCCTTGTGGTCACTGCCTGTG 0.552000 113 9 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36898331 36898331 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:36898331G>A uc003cgj.3 - 11 2998 c.2750C>T c.(2749-2751)gCc>gTc p.A917V NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 917 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCGGTTGTAGGCATTGCAGAT 0.478000 41 6 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47280848 47280848 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:47280848C>T uc001cqn.4 + 7 1069 c.985C>T c.(985-987)Ctc>Ttc p.L329F CYP4B1_uc009vyl.1_Missense_Mutation_p.L165F|CYP4B1_uc001cqm.4_Missense_Mutation_p.L328F|CYP4B1_uc009vym.3_Missense_Mutation_p.L314F|CYP4B1_uc010omk.2_Missense_Mutation_p.L165F NM_001099772 NP_001093242 P13584 CP4B1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA. 328 Y -> S (in dbSNP:rs12094024). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) CTCCTGGTTTCTCTACTGCAT 0.537000 60 11 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22389748 22389748 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:22389748G>A uc003gqm.1 - 18 3811 c.3546C>T c.(3544-3546)agC>agT p.S1182S GPR125_uc010ieo.1_Silent_p.S1038S|GPR125_uc003gql.1_Silent_p.S309S NM_145290 NP_660333 Q8IWK6 GP125_HUMAN Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA. 1182 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) CTGTGAGTCGGCTTGCCCGGT 0.493000 43 5 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196749422 196749422 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:196749422G>A uc002utj.4 - 34 5751 c.5650C>T c.(5650-5652)Cga>Tga p.R1884* NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1884 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTTCGAGTTCGATCTGAAATT 0.358000 79 6 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7576897 7576897 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:7576897G>A uc002gim.2 - 8 1143 c.949C>T c.(949-951)Cag>Tag p.Q317* TP53_uc002gig.1_Intron|TP53_uc002gih.3_Nonsense_Mutation_p.Q317*|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_Nonsense_Mutation_p.Q185*|TP53_uc010cnf.1_Nonsense_Mutation_p.Q185*|TP53_uc002gii.1_Nonsense_Mutation_p.Q185*|TP53_uc010cni.1_Nonsense_Mutation_p.Q317*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q317*|TP53_uc002gij.2_Nonsense_Mutation_p.Q317*|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 317 Interaction with CARM1.|Interaction with HIPK1 (By similarity). Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation). DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q317*(53)|p.0?(8)|p.Q317K(6)|p.P316P(2)|p.Q317fs*28(2)|p.Q317R(2)|p.Q317fs*45(2)|p.Q317fs*19(2)|p.S315fs*22(1)|p.?(1)|p.Q317fs*?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317P(1)|p.P316fs*21(1)|p.P316L(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCTTTGGCTGGGGAGAGGAG 0.473000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 78 7 0 0 1 0 0 GCK 2645 broad.mit.edu 37 7 44189458 44189458 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:44189458C>T uc003tkl.2 - 6 1050 c.580_splice c.e6-1 p.D194_splice GCK_uc003tkj.1_Splice_Site_p.D193_splice|GCK_uc003tkk.1_Splice_Site_p.D195_splice NM_000162 NP_000153 P35557 HXK4_HUMAN Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA. 194 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 ATTTCAAAGTCCTGCCAAGAA 0.597000 112 10 0 0 1 0 0 KRT73 319101 broad.mit.edu 37 12 53011862 53011862 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:53011862C>T uc001sas.3 - 1 482 c.447_splice c.e1+1 p.K149_splice NM_175068 NP_778238 Q86Y46 K2C73_HUMAN Homo sapiens keratin 73 (KRT73), mRNA. 149 Coil 1A.|Rod. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) AAAGACCCACCTTGTCAATGA 0.527000 136 10 0 0 1 0 0 ACVRL1 94 broad.mit.edu 37 12 52312854 52312854 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:52312854G>A uc001rzj.3 + 8 1615 c.1332G>A c.(1330-1332)gtG>gtA p.V444V ACVRL1_uc001rzk.3_Silent_p.V444V|ACVRL1_uc010snm.2_Silent_p.V270V NM_000020 NP_001070869 P37023 ACVL1_HUMAN Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA. 444 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) TGGTGTGTGTGGATCAGCAGA 0.577000 92 6 0 0 1 0 0 PDE4B 5142 broad.mit.edu 37 1 66384348 66384348 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:66384348C>T uc001dcn.3 + 2 302 c.111C>T c.(109-111)atC>atT p.I37I PDE4B_uc009war.3_Intron|PDE4B_uc001dco.3_Silent_p.I37I NM_001037341 NP_002591 Q07343 PDE4B_HUMAN Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA. 37 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding p.I37I(2) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) CACTTGGGATCGACCTCTGGA 0.438000 74 10 0 0 1 0 0 BPIFB1 92747 broad.mit.edu 37 20 31879718 31879718 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:31879718C>T uc002wyw.1 + 5 682 c.521C>T c.(520-522)tCc>tTc p.S174F BPIFB1_uc010gej.1_Missense_Mutation_p.S174F NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA. 174 extracellular space lipid binding GAAAGGCTCTCCTTCCTGGTG 0.527000 OREG0025868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 80 5 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5897539 5897539 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:5897539C>T uc002wmg.3 + 2 470 c.164C>T c.(163-165)cCt>cTt p.P55L CHGB_uc010zqz.2_5'UTR NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 55 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 CCCATCACCCCTGAGTGCCGC 0.567000 127 14 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40408083 40408083 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:40408083G>A uc002omp.4 - 8 4646 c.4638C>T c.(4636-4638)tcC>tcT p.S1546S NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 1546 Cys-rich.|TIL 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGCAGCCCAGGGAGCAGGTGT 0.652000 54 9 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61611571 61611571 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:61611571C>T uc002jay.3 + 4 1080 c.1000C>T c.(1000-1002)Ccc>Tcc p.P334S KCNH6_uc002jax.1_Missense_Mutation_p.P334S|KCNH6_uc010wpl.2_Missense_Mutation_p.P211S|KCNH6_uc010wpm.2_Missense_Mutation_p.P334S|KCNH6_uc002jaz.1_Missense_Mutation_p.P334S NM_030779 NP_110406 Q9H252 KCNH6_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA. 334 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) GGTCAGCCACCCCCGCCGCAT 0.567000 127 5 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73151867 73151867 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:73151867C>T uc004aid.3 - 24 4370 c.4126G>A c.(4126-4128)Gaa>Aaa p.E1376K TRPM3_uc004ahu.3_Missense_Mutation_p.E1218K|TRPM3_uc004ahv.3_Missense_Mutation_p.E1178K|TRPM3_uc004ahw.3_Missense_Mutation_p.E1248K|TRPM3_uc004ahx.3_Missense_Mutation_p.E1235K|TRPM3_uc004ahy.3_Missense_Mutation_p.E1238K|TRPM3_uc004ahz.3_Missense_Mutation_p.E1225K|TRPM3_uc004aia.3_Missense_Mutation_p.E1223K|TRPM3_uc004aib.3_Missense_Mutation_p.E1213K|TRPM3_uc004aic.3_Intron NM_001007471 NP_066003 Q9HCF6 TRPM3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA. 1401 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GCTTTGGGTTCTTTTGCTACA 0.448000 105 20 0 0 1 0 0 CD101 9398 broad.mit.edu 37 1 117560945 117560945 + Nonsense_Mutation SNP C T T rs140225271 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:117560945C>T uc010oxb.1 + 5 1838 c.1780C>T c.(1780-1782)Cga>Tga p.R594* CD101_uc009whd.3_Nonsense_Mutation_p.R594*|CD101_uc010oxc.1_Nonsense_Mutation_p.R594*|CD101_uc010oxd.1_Nonsense_Mutation_p.R532* NM_004258 NP_004249 Q93033 IGSF2_HUMAN Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA. 594 Ig-like C2-type 5. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides p.R594Q(2) NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CCAGCTTATTCGAATCACCCA 0.502000 61 9 0 0 1 0 0 GATM 2628 broad.mit.edu 37 15 45658282 45658282 + Missense_Mutation SNP C G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:45658282C>G uc001zvc.3 - 5 1269 c.940G>C c.(940-942)Ggt>Cgt p.G314R GATM_uc001zvb.3_Missense_Mutation_p.G185R|GATM_uc010uev.1_Missense_Mutation_p.G367R NM_001482 NP_001473 P50440 GATM_HUMAN Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA. 314 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) AGCACAATACCAGGTCCAATG 0.433000 90 11 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17752357 17752357 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:17752357G>A uc021uqk.1 - 20 2520 c.2478C>T c.(2476-2478)ttC>ttT p.F826F NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA. 827 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TCACGAAGTGGAACAGGTTCT 0.572000 76 4 0 0 1 0 0 RARB 5915 broad.mit.edu 37 3 25637940 25637940 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:25637940G>A uc011awl.2 + 7 1267 c.1201G>A c.(1201-1203)Gaa>Aaa p.E401K RARB_uc003cdi.2_Missense_Mutation_p.E282K|RARB_uc003cdh.3_Missense_Mutation_p.E394K NM_016152 NP_057236 P10826 RARB_HUMAN Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA. 401 Ligand-binding. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) CTTGAAAATGGAAATTCCTGG 0.413000 85 11 0 0 1 0 0 PDE10A 10846 broad.mit.edu 37 6 165801865 165801865 + Silent SNP G A A rs139267725 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:165801865G>A uc003qun.3 - 17 1949 c.1704C>T c.(1702-1704)ttC>ttT p.F568F PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Silent_p.F498F|PDE10A_uc003quo.3_Silent_p.F578F NM_006661 NP_006652 Q9Y233 PDE10_HUMAN RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A; EC=3.1.4.17; EC=3.1.4.35; 568 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GAGGGTGGTCGAACTTCTGCA 0.537000 103 10 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103629 53103629 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:53103629C>T uc003tpz.3 + 0 281 c.265C>T c.(265-267)Ccg>Tcg p.P89S NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 89 p.P89P(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCCGCCAAGCCGCAGCGGGT 0.692000 27 4 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101740241 101740241 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:101740241G>A uc001tia.1 + 37 4915 c.4759G>A c.(4759-4761)Gca>Aca p.A1587T NM_014503 NP_055318 O75691 UTP20_HUMAN Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA. 1587 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 CCACAGAAGAGCAAGAGCCTT 0.358000 54 5 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8595250 8595250 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:8595250C>T uc002mkg.3 - 21 2297 c.2159_splice c.e21-1 p.A720_splice NM_012335 NP_036467 O00160 MYO1F_HUMAN Homo sapiens myosin IF (MYO1F), mRNA. 720 IQ. unconventional myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 ATGTTGGAAGCTGCGGGGACA 0.642000 236 13 0 0 1 0 0 ZNF250 58500 broad.mit.edu 37 8 146108125 146108125 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:146108125C>T uc003zeq.4 - 5 575 c.458G>A c.(457-459)aGg>aAg p.R153K COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.4_Missense_Mutation_p.R148K|ZNF250_uc010mgg.3_Missense_Mutation_p.R148K NM_021061 NP_066405 P15622 ZN250_HUMAN Homo sapiens zinc finger protein 250 (ZNF250), transcript variant 1, mRNA. 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) TTGATCAATCCTCCCCAAGGG 0.433000 179 15 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35043898 35043898 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:35043898G>A uc003zvw.3 + 1 1301 c.1272G>A c.(1270-1272)tgG>tgA p.W424* C9orf131_uc003zvu.3_Nonsense_Mutation_p.W376*|C9orf131_uc003zvv.3_Nonsense_Mutation_p.W351*|C9orf131_uc003zvx.3_Nonsense_Mutation_p.W389* NM_203299 NP_976044 Q5VYM1 CI131_HUMAN Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA. 424 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) GAAACCTCTGGGCTTTTGAGT 0.532000 70 8 0 0 1 0 0 NMS 129521 broad.mit.edu 37 2 101099714 101099714 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:101099714G>A uc002tan.1 + 10 457 c.450_splice c.e10-1 p.Q150_splice NM_001011717 NP_001011717 Q5H8A3 NMS_HUMAN Homo sapiens neuromedin S (NMS), mRNA. 150 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 CTTTTTTTAGGATTCAGTGGT 0.338000 34 6 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74824907 74824907 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:74824907C>T uc021rwl.1 + 0 1421 c.1421C>T c.(1420-1422)cCt>cTt p.P474L VRTN_uc001xpw.4_Missense_Mutation_p.P474L NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA. 474 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 GCTGTAATTCCTTGGAAGAGT 0.652000 86 10 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 71953006 71953006 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:71953006C>T uc002atb.1 + 6 1369 c.1290C>T c.(1288-1290)gtC>gtT p.V430V THSD4_uc002atd.1_Silent_p.V104V|THSD4_uc010ukg.1_Silent_p.V70V|THSD4_uc002ate.2_Silent_p.V70V NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA. 430 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 ACCACCGCGTCGTGGAGATTC 0.532000 103 8 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179600503 179600503 + Missense_Mutation SNP G T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:179600503G>T uc021vsy.1 - 46 11163 c.10938C>A c.(10936-10938)ttC>ttA p.F3646L TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F307L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4573 Ig-like 22. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTCTTTAATGAAATGTGGCT 0.413000 16 4 0.0215528 0.0216132 1 1 0 ZNF678 339500 broad.mit.edu 37 1 227843146 227843146 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:227843146C>T uc021pjy.1 + 3 1536 c.1360C>T c.(1360-1362)Cat>Tat p.H454Y ZNF678_uc001hqw.2_Missense_Mutation_p.H399Y|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron NM_178549 NP_848644 F5GXA7 F5GXA7_HUMAN Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA. 454 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) TAGGAGAATTCATACTGGAGT 0.383000 36 4 0 0 1 0 0 F10 2159 broad.mit.edu 37 13 113803313 113803313 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:113803313G>A uc001vsx.3 + 7 1006 c.949G>A c.(949-951)Gag>Aag p.E317K F10_uc001vsy.3_Silent_p.R313R NM_000504 NP_000495 P00742 FA10_HUMAN Homo sapiens coagulation factor X (F10), mRNA. 317 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|extracellular region calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) GTTCACAAAGGAGACCTATGA 0.647000 269 26 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62324551 62324551 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:62324551C>T uc021wge.1 + 28 3077 c.2907C>T c.(2905-2907)atC>atT p.I969I RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Silent_p.I969I|RTEL1_uc011abd.2_Silent_p.I993I|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Silent_p.I746I|RTEL1_uc002yfx.1_Silent_p.I214I|TNFRSF6B_uc002yfy.3_5'Flank|TNFRSF6B_uc002yfz.3_5'Flank NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA. 969 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) AGGTCTGTATCCAGCTGACAG 0.602000 185 22 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16008252 16008252 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:16008252C>T uc002nbs.1 - 1 220 c.170G>A c.(169-171)cGg>cAg p.R57Q CYP4F2_uc010xot.1_Intron|CYP4F2_uc010xou.1_5'UTR NM_001082 NP_001073 P78329 CP4F2_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA. 57 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AAACCAGTTCCGTCTTGGGGG 0.617000 163 15 0 0 1 0 0 OR5K4 403278 broad.mit.edu 37 3 98072975 98072975 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:98072975C>T uc011bgv.2 + 0 278 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 AGAATTATTTCCCTGTATGAA 0.433000 240 9 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138000129 138000129 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:138000129G>A uc002tva.1 + 8 2160 c.2160G>A c.(2158-2160)agG>agA p.R720R THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.R610R NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTGCCCAAGGATGTGCCAAG 0.478000 45 6 0 0 1 0 0 MTCH2 23788 broad.mit.edu 37 11 47640420 47640420 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:47640420T>C uc010rho.2 - 12 1066 c.877A>G c.(877-879)Aag>Gag p.K293E MTCH2_uc010rhp.2_Missense_Mutation_p.K145E NM_014342 NP_055157 Q9Y6C9 MTCH2_HUMAN Homo sapiens mitochondrial carrier 2 (MTCH2), nuclear gene encoding mitochondrial protein, mRNA. 293 transport integral to membrane|mitochondrial inner membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 CAATAAGTCTTCCCAAAGGGG 0.403000 151 14 0 0 1 0 0 MAN1A1 4121 broad.mit.edu 37 6 119611922 119611922 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:119611922C>T uc003pym.1 - 4 1265 c.823G>A c.(823-825)Gaa>Aaa p.E275K MAN1A1_uc010kei.2_Missense_Mutation_p.E298K NM_005907 NP_005898 P33908 MA1A1_HUMAN Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA. 275 post-translational protein modification|protein N-linked glycosylation via asparagine ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) ACAGAAATTTCAGCATTCTAT 0.294000 43 6 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48266134 48266134 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:48266134G>A uc002iqm.3 - 41 3194 c.3068C>T c.(3067-3069)tCc>tTc p.S1023F NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 1023 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) TCGTCCAGGGGAACCTTCGGC 0.617000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 106 9 0 0 1 0 0 NPTXR 23467 broad.mit.edu 37 22 39224437 39224437 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:39224437C>T uc003awk.3 - 1 859 c.705G>A c.(703-705)atG>atA p.M235I NM_014293 NP_055108 O95502 NPTXR_HUMAN Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA. 235 integral to membrane metal ion binding central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) CCAGCTGGTCCATCTTGGAGT 0.647000 27 5 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65494255 65494255 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:65494255C>T uc002aon.2 - 7 1322 c.1141G>A c.(1141-1143)Gat>Aat p.D381N NM_003613 NP_003604 O75339 CILP1_HUMAN Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA. 381 Ig-like C2-type. negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 GCCCCAGCATCACTCTGGGCC 0.577000 64 9 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16025618 16025618 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:16025618A>G uc002nbu.2 - 9 1239 c.1203T>C c.(1201-1203)tgT>tgC p.C401C CYP4F11_uc010eab.1_Silent_p.C401C|CYP4F11_uc002nbt.2_Silent_p.C401C NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 401 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 CCTGCGTGCAACATCGGGAGA 0.622000 144 6 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140719148 140719148 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140719148G>A uc003ljk.2 + 0 795 c.610G>A c.(610-612)Gaa>Aaa p.E204K PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.E204K NM_018915 NP_061738 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA. 204 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACCGCGAGGAAGAGGCTGT 0.597000 91 8 0 0 1 0 0 DOK1 1796 broad.mit.edu 37 2 74784195 74784195 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:74784195G>A uc002sms.3 + 4 1770 c.1400G>A c.(1399-1401)aGa>aAa p.R467K DOK1_uc002smr.3_Missense_Mutation_p.R328K|DOK1_uc010ffo.3_Missense_Mutation_p.R328K|DOK1_uc002smt.3_Missense_Mutation_p.R253K|DOK1_uc002smu.3_Missense_Mutation_p.R253K|DOK1_uc010yrz.2_Missense_Mutation_p.R456K|DOK1_uc002smw.1_Missense_Mutation_p.R253K NM_001381 NP_001184189 Q99704 DOK1_HUMAN Homo sapiens docking protein 1, 62kDa (downstream of tyrosine kinase 1) (DOK1), transcript variant 1, mRNA. 467 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 GGGCTCTCTAGAGTAGGGACT 0.602000 62 13 0 0 1 0 0 ODZ2 57451 broad.mit.edu 37 5 167645469 167645469 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:167645469G>A uc010jjd.3 + 22 4546 c.4546G>A c.(4546-4548)Gat>Aat p.D1516N ODZ2_uc003lzr.4_Missense_Mutation_p.D1286N|ODZ2_uc003lzt.4_Missense_Mutation_p.D889N|ODZ2_uc010jje.3_Missense_Mutation_p.D780N NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CTGCAAAAACGATGTCAATTG 0.488000 181 20 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560590 44560590 + Missense_Mutation SNP C T T rs2571029 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:44560590C>T uc002lcr.1 - 0 1399 c.1046G>A c.(1045-1047)gGg>gAg p.G349E KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 349 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CGGTGGCTTCCCCTCTTGAGT 0.587000 65 5 0 0 1 0 0 ASB2 51676 broad.mit.edu 37 14 94420665 94420665 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:94420665C>T uc001ycd.3 - 3 846 c.476G>A c.(475-477)cGa>cAa p.R159Q ASB2_uc001ycc.2_Missense_Mutation_p.R111Q|ASB2_uc001yce.1_Missense_Mutation_p.R57Q NM_001202429 NP_001189358 Q96Q27 ASB2_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA. 111 intracellular signal transduction p.R111Q(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GCCCTCACCTCGCTGCAGGAC 0.612000 132 7 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140201627 140201627 + Silent SNP C T T rs148967528 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140201627C>T uc003lhl.2 + 0 267 c.267C>T c.(265-267)atC>atT p.I89I PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.I89I|PCDHAC2_uc003lhj.1_Silent_p.I89I NM_018908 NP_061731 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA. 105 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCTCGGATCGACCGGGAGG 0.627000 295 13 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21924006 21924006 + Missense_Mutation SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:21924006A>C uc003svc.3 + 76 12537 c.12506A>C c.(12505-12507)gAa>gCa p.E4169A NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 4169 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GTGTATTTAGAAGAATTCATG 0.358000 Kartagener syndrome 46 6 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28377943 28377943 + Silent SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:28377943C>A uc001zbj.3 - 79 12370 c.12264G>T c.(12262-12264)ctG>ctT p.L4088L NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 4088 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.S4087F(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CAATTCCTCTCAGAGACTCGA 0.498000 162 14 1.00905e-13 1.0215e-13 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13841810 13841810 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:13841810G>A uc003jfd.2 - 32 5517 c.5475C>T c.(5473-5475)ttC>ttT p.F1825F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1825 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.S1824F(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCTGAGCAGGGAAGGATGAAA 0.358000 Kartagener syndrome 49 3 0 0 1 0 0 WDR67 93594 broad.mit.edu 37 8 124113183 124113183 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:124113183C>T uc003ypp.2 + 6 1058 c.968C>T c.(967-969)tCt>tTt p.S323F WDR67_uc011lig.2_Missense_Mutation_p.S323F|WDR67_uc011lih.2_Missense_Mutation_p.S213F|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003yps.2_Missense_Mutation_p.S36F|WDR67_uc003ypo.1_Missense_Mutation_p.S323F|WDR67_uc003ypr.3_Non-coding_Transcript NM_145647 NP_663622 Q96DN5 WDR67_HUMAN Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA. 323 centrosome Rab GTPase activator activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) TACATTGCATCTATTATGGAA 0.343000 53 3 0 0 1 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26873383 26873383 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:26873383C>T uc001bmr.1 + 2 297 c.134C>T c.(133-135)tCc>tTc p.S45F RPS6KA1_uc010ofe.1_Intron|RPS6KA1_uc010off.1_Missense_Mutation_p.S29F|RPS6KA1_uc001bms.1_Missense_Mutation_p.S54F|RPS6KA1_uc009vsl.1_5'UTR NM_002953 NP_002944 Q15418 KS6A1_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA. 45 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) AAGGAGATCTCCATCACGCAC 0.592000 41 7 0 0 1 0 0 MAU2 23383 broad.mit.edu 37 19 19431801 19431801 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:19431801C>T uc002nmk.4 + 0 172 c.133C>T c.(133-135)Cgc>Tgc p.R45C SUGP1_uc002nmh.3_5'Flank|SUGP1_uc002nmi.3_5'Flank|SUGP1_uc002nmj.3_5'Flank|SUGP1_uc010xqr.2_5'Flank|SUGP1_uc010xqs.2_5'Flank NM_015329 NP_056144 Q9Y6X3 SCC4_HUMAN Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA. 45 Sufficient for interaction with NIPBL. cell division|maintenance of mitotic sister chromatid cohesion SMC loading complex|chromatin|nucleoplasm protein N-terminus binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 18 GCCCAAAATCCGCCTGTGCGT 0.687000 19 3 0 0 1 0 0 FAM75D1 389763 broad.mit.edu 37 9 84609683 84609683 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:84609683C>T uc004amn.3 + 3 4345 c.4298C>T c.(4297-4299)tCc>tTc p.S1433F NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA. 1433 integral to membrane cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 88 GAGCCCCTTTCCTTCCCAGTG 0.547000 44 3 0 0 1 0 0 COPS7A 50813 broad.mit.edu 37 12 6837404 6837404 + Missense_Mutation SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:6837404T>G uc001qqj.3 + 3 493 c.254T>G c.(253-255)cTt>cGt p.L85R COPS7A_uc001qqh.3_Missense_Mutation_p.L85R|COPS7A_uc001qqi.3_Missense_Mutation_p.L85R|COPS7A_uc001qqn.4_Missense_Mutation_p.L85R NM_001164094 NP_057403 Q9UBW8 CSN7A_HUMAN Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis) (COPS7A), transcript variant 2, mRNA. 85 PCI. cullin deneddylation cytoplasm|signalosome endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1) 10 GCCCGGAATCTTCCTCCACTA 0.507000 58 7 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52941065 52941065 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:52941065G>A uc001cty.2 - 12 2419 c.2166C>T c.(2164-2166)ttC>ttT p.F722F ZCCHC11_uc001ctx.2_Silent_p.F722F|ZCCHC11_uc009vze.1_Silent_p.F722F|ZCCHC11_uc009vzf.1_Silent_p.F481F|ZCCHC11_uc001cub.3_Silent_p.F722F NM_001009881 NP_001009881 Q5TAX3 TUT4_HUMAN Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA. 722 RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance cytoplasm|nucleolus RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 CTCTTTTCTTGAAATCCACTG 0.418000 130 21 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98192651 98192651 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:98192651G>A uc001kml.2 - 3 674 c.433C>T c.(433-435)Ccc>Tcc p.P145S TLL2_uc009xvf.2_Intron NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN Homo sapiens tolloid-like 2 (TLL2), mRNA. 145 cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CGGACCCGGGGAGAGAAGGTC 0.552000 63 4 0 0 1 0 0 CHRNB1 1140 broad.mit.edu 37 17 7350470 7350470 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:7350470G>A uc002ghb.3 + 5 503 c.462_splice c.e5+1 p.Q154_splice CHRNB1_uc010vty.2_Splice_Site_p.Q82_splice|CHRNB1_uc010vtz.1_5'UTR NM_000747 NP_000738 P11230 ACHB_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA. 154 behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine binding|receptor activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3) 23 Prostate(122;0.157) GCAGCATCCAGGTTTCCGGCC 0.582000 49 3 0 0 1 0 0 SLC13A3 64849 broad.mit.edu 37 20 45195025 45195025 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:45195025G>A uc002xsf.2 - 10 1377 c.1337C>T c.(1336-1338)tCg>tTg p.S446L SLC13A3_uc010ghn.2_Missense_Mutation_p.S415L|SLC13A3_uc010zxx.2_Missense_Mutation_p.S348L|SLC13A3_uc010zxw.2_Missense_Mutation_p.S396L|SLC13A3_uc002xsg.2_Missense_Mutation_p.S399L|SLC13A3_uc010gho.2_Missense_Mutation_p.S364L|SLC13A3_uc002xse.2_5'Flank|SLC13A3_uc010ghm.2_Missense_Mutation_p.S33L|SLC13A3_uc010zxv.2_Missense_Mutation_p.S31L NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA. 446 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity p.S446L(2) breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) AGACAGCCCCGATTCCTGCGG 0.597000 140 13 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165947271 165947271 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:165947271C>T uc002ucx.3 - 27 5884 c.5392G>A c.(5392-5394)Gaa>Aaa p.E1798K SCN3A_uc010zcy.2_Missense_Mutation_p.E281K|SCN3A_uc002ucy.3_Missense_Mutation_p.E1749K|SCN3A_uc002ucz.3_Missense_Mutation_p.E1749K NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 1798 voltage-gated sodium channel complex voltage-gated sodium channel activity p.W1797*(2) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TCAAACTTTTCCCAAACCTCA 0.463000 69 10 0 0 1 0 0 IL11RA 3590 broad.mit.edu 37 9 34660931 34660931 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:34660931C>T uc003zvi.3 + 11 2606 c.1250C>T c.(1249-1251)cCa>cTa p.P417L IL11RA_uc011loq.2_Missense_Mutation_p.P417L|IL11RA_uc003zvk.3_Missense_Mutation_p.P417L|IL11RA_uc010mke.3_Missense_Mutation_p.P299L NM_004512 NP_004503 Q14626 I11RA_HUMAN Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA. 417 integral to plasma membrane cytokine receptor activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.174) Oprelvekin(DB00038) GACAGGCGTCCAGGTGAGTAG 0.527000 105 7 0 0 1 0 0 HHLA2 11148 broad.mit.edu 37 3 108072559 108072559 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:108072559G>A uc003dwz.3 + 3 764 c.350G>A c.(349-351)gGa>gAa p.G117E HHLA2_uc011bhl.2_Missense_Mutation_p.G53E|HHLA2_uc010hpu.3_Missense_Mutation_p.G117E|HHLA2_uc003dwy.4_Missense_Mutation_p.G117E NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA. 117 Ig-like V-type 1. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 CTGGACGAAGGAATTTACACC 0.403000 28 3 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105257282 105257282 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:105257282G>A uc003yls.3 + 23 3768 c.3527G>A c.(3526-3528)gGa>gAa p.G1176E RIMS2_uc003ylp.3_Missense_Mutation_p.G1158E|RIMS2_uc003ylw.2_Missense_Mutation_p.G1165E|RIMS2_uc003ylq.3_Missense_Mutation_p.G972E|RIMS2_uc003ylr.3_Missense_Mutation_p.G997E NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 1220 intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding p.G1176E(1)|p.G972E(1) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGCTCAGAAGGAAAGTGAGTG 0.498000 HNSCC(12;0.0054) 83 5 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50611661 50611661 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:50611661C>T uc003tpg.4 - 1 324 c.123G>A c.(121-123)ctG>ctA p.L41L DDC_uc022ade.1_Silent_p.L41L|DDC_uc003tpf.4_Silent_p.L41L|DDC_uc022adb.1_Silent_p.L41L|DDC_uc022adc.1_Silent_p.L41L|DDC_uc022add.1_Silent_p.L41L|DDC_uc022adf.1_Silent_p.L41L NM_001082971 NP_001076440 P20711 DDC_HUMAN Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA. 41 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CGGCAGGGATCAGCGGCCGCA 0.572000 231 20 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100366238 100366238 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:100366238C>T uc001dsi.1 + 25 3809 c.3409C>T c.(3409-3411)Cct>Tct p.P1137S AGL_uc001dsj.1_Missense_Mutation_p.P1137S|AGL_uc001dsk.1_Missense_Mutation_p.P1137S|AGL_uc001dsl.1_Missense_Mutation_p.P1137S|AGL_uc001dsm.1_Missense_Mutation_p.P1121S|AGL_uc001dsn.1_Missense_Mutation_p.P1120S NM_000642 NP_000635 P35573 GDE_HUMAN Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA. 1137 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TGGTCTCATTCCTAATCTACT 0.388000 251 44 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762527 130762527 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:130762527G>A uc003qcb.3 + 1 3338 c.960G>A c.(958-960)agG>agA p.R320R TMEM200A_uc003qca.3_Silent_p.R320R|TMEM200A_uc010kfh.3_Silent_p.R320R|TMEM200A_uc010kfi.3_Silent_p.R320R|TMEM200A_uc021zfg.1_Silent_p.R320R NM_052913 NP_443145 Q86VY9 T200A_HUMAN Homo sapiens transmembrane protein 200A (TMEM200A), mRNA. 320 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GTAGGTCAAGGAATTTGTCAA 0.428000 52 7 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24580302 24580302 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:24580302G>A uc002dmh.3 + 16 3331 c.2291G>A c.(2290-2292)aGa>aAa p.R764K RBBP6_uc010vcb.1_Missense_Mutation_p.R631K|RBBP6_uc002dmi.3_Missense_Mutation_p.R730K|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.R597K NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA. 764 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) CCCCCTTACAGACGCTATCAT 0.463000 38 4 0 0 1 0 0 RORB 6096 broad.mit.edu 37 9 77257718 77257718 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:77257718C>T uc004aji.3 + 3 706 c.657C>T c.(655-657)acC>acT p.T219T RORB_uc004ajh.3_Silent_p.T208T NM_006914 NP_008845 Q92753 RORB_HUMAN Homo sapiens RAR-related orphan receptor B (RORB), mRNA. 219 Hinge (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 CAGGGATAACCATGACTGAAA 0.393000 99 9 0 0 1 0 0 ZFR 51663 broad.mit.edu 37 5 32397417 32397417 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:32397417G>A uc003jhr.1 - 9 1821 c.1741C>T c.(1741-1743)Cgg>Tgg p.R581W NM_016107 NP_057191 Q96KR1 ZFR_HUMAN Homo sapiens zinc finger RNA binding protein (ZFR), mRNA. 581 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) CAATGGAACCGAATTACTTTT 0.343000 53 6 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4566516 4566516 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:4566516C>T uc010qyf.2 + 0 96 c.96C>T c.(94-96)ccC>ccT p.P32P NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA. 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTCCATCCCCTTTGGCTCCA 0.542000 56 7 0 0 1 0 0 KRT34 3885 broad.mit.edu 37 17 39537338 39537338 + Silent SNP C T T rs145004450 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:39537338C>T uc002hwm.3 - 2 696 c.684G>A c.(682-684)gaG>gaA p.E228E NM_021013 NP_066293 O76011 KRT34_HUMAN Homo sapiens keratin 34 (KRT34), mRNA. 228 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) AGCAGATCAGCTCCTCCCTCA 0.512000 199 10 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17046492 17046492 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:17046492G>A uc001azn.1 - 0 161 c.47C>T c.(46-48)cCc>cTc p.P16L Homo sapiens espin pseudogene (ESPNP), non-coding RNA. CCTCAGGGAGGGGAAGTCTCC 0.627000 78 7 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240286504 240286504 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:240286504C>T uc010pye.2 + 1 1866 c.1641C>T c.(1639-1641)ttC>ttT p.F547F FMN2_uc010pyd.2_Silent_p.F547F NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 547 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AGAAGCTGTTCAGCCAGCAGG 0.547000 70 10 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186669990 186669990 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:186669990G>A uc002upl.3 + 16 16224 c.16224G>A c.(16222-16224)ctG>ctA p.L5408L FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CAAATTCTCTGATAAGGGAAT 0.299000 51 5 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160763735 160763735 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:160763735C>T uc003lys.1 - 6 801 c.583G>A c.(583-585)Gat>Aat p.D195N GABRB2_uc011deh.1_Missense_Mutation_p.D34N|GABRB2_uc003lyr.1_Missense_Mutation_p.D195N|GABRB2_uc003lyt.1_Missense_Mutation_p.D195N|GABRB2_uc021yhg.1_Missense_Mutation_p.D132N NM_021911 NP_068711 P47870 GBRB2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA. 195 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GCATTATCATCGCCACGCCAG 0.353000 111 8 0 0 1 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626638 140626638 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140626638C>T uc003lje.3 + 0 1492 c.1492C>T c.(1492-1494)Ctg>Ttg p.L498L NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN Homo sapiens protocadherin beta 15 (PCDHB15), mRNA. 498 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACCCGCACCTGCCCCTCAC 0.667000 232 13 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84611435 84611435 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:84611435G>A uc002bjz.4 + 17 2429 c.2205G>A c.(2203-2205)gaG>gaA p.E735E ADAMTSL3_uc010bmt.1_Silent_p.E735E NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 735 TSP type-1 5. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) ACCCAGGGGAGACCCCTGCCC 0.557000 70 10 0 0 1 0 0 MRS2 57380 broad.mit.edu 37 6 24416695 24416695 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:24416695T>C uc011djl.2 + 7 921 c.799T>C c.(799-801)Ttg>Ctg p.L267L MRS2_uc003nea.3_Silent_p.L264L|MRS2_uc003neb.3_Silent_p.L264L|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Silent_p.L214L NM_020662 NP_065713 Q9HD23 MRS2_HUMAN Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA. 264 ion transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 TGAGGAAGAGTTGCTAGAAGA 0.303000 161 17 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43783338 43783338 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:43783338G>A uc001ciu.3 + 15 2901 c.2724G>A c.(2722-2724)aaG>aaA p.K908K TIE1_uc010oke.2_Silent_p.K863K|TIE1_uc009vwq.3_Silent_p.K864K|TIE1_uc010okg.2_Silent_p.K553K NM_005424 NP_005415 P35590 TIE1_HUMAN Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA. 908 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGGCCTGTAAGAACCGAGGTG 0.557000 130 11 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149924 34149924 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:34149924C>T uc004ddg.3 - 0 524 c.472G>A c.(472-474)Gag>Aag p.E158K NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 158 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TCCTCCAGCTCCCTCTCAGGA 0.547000 24 4 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147092834 147092834 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:147092834C>T uc003weu.2 + 9 2148 c.1632C>T c.(1630-1632)ttC>ttT p.F544F MIR548I4_uc022aoo.1_Intron NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 544 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.F544L(2) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CGGGAAGTTTCGCGAATGTCA 0.438000 HNSCC(39;0.1) 132 9 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142031486 142031486 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:142031486G>A uc003eus.3 - 40 4839 c.4772C>T c.(4771-4773)gCt>gTt p.A1591V XRN1_uc010huu.3_Missense_Mutation_p.A1045V|XRN1_uc003eut.3_Missense_Mutation_p.A1578V|XRN1_uc003euu.3_Missense_Mutation_p.A1579V NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA. 1591 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|RNA binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TATTCCCCCAGCCATGGGCAT 0.433000 60 7 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105368387 105368387 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:105368387G>A uc003ylx.1 + 3 1423 c.1374G>A c.(1372-1374)agG>agA p.R458R NM_030788 NP_110415 Q9H295 TM7S4_HUMAN Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA. 458 osteoclast differentiation cell surface|integral to membrane|plasma membrane AAATGATTAGGAAGAAGCAAA 0.448000 47 3 0 0 1 0 0 OR5W2 390148 broad.mit.edu 37 11 55681863 55681863 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:55681863G>A uc010rir.2 - 0 196 c.196C>T c.(196-198)Ctg>Ttg p.L66L NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA. 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CAGAAAGACAGATGACTGAGG 0.398000 70 5 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10429115 10429115 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:10429115C>T uc010coi.3 - 30 4394 c.4266G>A c.(4264-4266)aaG>aaA p.K1422K AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.K1422K|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1422 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCTGCTTCGTCTTTTCGAGGG 0.517000 58 13 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75055570 75055570 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:75055570C>T uc001dgg.3 - 11 2140 c.1921G>A c.(1921-1923)Gaa>Aaa p.E641K CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E435K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 641 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ATTTCAATTTCTAAGGATTCC 0.408000 61 8 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146350831 146350831 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:146350831G>A uc010khw.1 + 1 648 c.178G>A c.(178-180)Gag>Aag p.E60K GRM1_uc010khu.1_Missense_Mutation_p.E60K|GRM1_uc010khv.1_Missense_Mutation_p.E60K|GRM1_uc003qll.2_Missense_Mutation_p.E60K|GRM1_uc011edz.1_Missense_Mutation_p.E60K|GRM1_uc011eea.1_Missense_Mutation_p.E60K NM_000838 NP_000829 Q13255 GRM1_HUMAN Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA. 60 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GCCTCCGGCCGAGAAAGTGCC 0.592000 52 4 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113308069 113308069 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:113308069G>A uc003ynu.3 - 53 8766 c.8607C>T c.(8605-8607)tcC>tcT p.S2869S CSMD3_uc003yns.3_Silent_p.S2071S|CSMD3_uc003ynt.3_Silent_p.S2829S|CSMD3_uc011lhx.2_Silent_p.S2700S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 2869 Sushi 18. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TACGCACACAGGATGGGAGCT 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 59 4 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61926373 61926373 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:61926373C>T uc001jky.3 - 22 2928 c.2590G>A c.(2590-2592)Gaa>Aaa p.E864K ANK3_uc001jkx.3_Missense_Mutation_p.E42K|ANK3_uc010qih.2_Missense_Mutation_p.E847K|ANK3_uc001jkz.4_Missense_Mutation_p.E858K|ANK3_uc001jlb.1_Intron|ANK3_uc001jlc.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 864 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GAGATATATTCGCCATCACTG 0.303000 43 9 0 0 1 0 0 PASK 23178 broad.mit.edu 37 2 242046056 242046057 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:242046056_242046057CC>TT uc002wao.2 - 17 4029_4030 c.3896_3897GG>AA c.(3895-3897)ggg>gAA p.G1299E PASK_uc010zol.2_Missense_Mutation_p.G1113E|PASK_uc010zom.2_Missense_Mutation_p.G1264E|PASK_uc010fzl.2_Missense_Mutation_p.G1306E|PASK_uc010zon.2_Missense_Mutation_p.G1080E|PASK_uc021vzf.1_Missense_Mutation_p.G1299E NM_015148 NP_055963 Q96RG2 PASK_HUMAN Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA. 1299 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GAACGGGGCCCCCACAAAGCTC 0.569000 93 9 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36779958 36779958 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:36779958C>T uc003cgi.2 - 1 684 c.193G>A c.(193-195)Gaa>Aaa p.E65K NM_033403 NP_208382 Q9C098 DCLK3_HUMAN Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA. 65 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 CCTGCAACTTCGCTGCAGCTC 0.612000 132 11 0 0 1 0 0 BMP3 651 broad.mit.edu 37 4 81966989 81966989 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:81966989G>A uc003hmg.4 + 1 734 c.414G>A c.(412-414)gaG>gaA p.E138E NM_001201 NP_001192 P12645 BMP3_HUMAN Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA. 138 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 GTATTGGAGAGCTAGGAAACA 0.418000 55 4 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154055817 154055817 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:154055817C>T uc003faa.3 - 3 1967 c.1867G>A c.(1867-1869)Gaa>Aaa p.E623K NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA. 623 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TCACAAATTTCAAGAACCTCC 0.428000 55 6 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152720830 152720830 + Silent SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:152720830T>G uc021zhb.1 - 45 7381 c.7158A>C c.(7156-7158)atA>atC p.I2386I SYNE1_uc003qot.4_Silent_p.I2393I|SYNE1_uc003qou.4_Silent_p.I2386I|SYNE1_uc010kjb.1_Silent_p.I2369I NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 2386 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere 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) CATGTTTCTTTATCAGACCAG 0.507000 HNSCC(10;0.0054) 120 12 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431749 56431749 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:56431749G>A uc010rjm.2 + 0 588 c.588G>A c.(586-588)gaG>gaA p.E196E OR8U8_uc001nit.2_Intron NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA. 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E196*(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 ACATCAGTGAGATCTTGCTCT 0.443000 91 13 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61985637 61985637 + Silent SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:61985637T>G uc001vid.4 - 1 2959 c.2595A>C c.(2593-2595)atA>atC p.I865I PCDH20_uc010thj.2_Silent_p.I865I NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN Homo sapiens protocadherin 20 (PCDH20), mRNA. 838 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.V864V(1) breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) CTTTCTCCTCTATATTAATCT 0.398000 44 4 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906683 164906683 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:164906683G>A uc003fej.4 - 1 2380 c.1936C>T c.(1936-1938)Cct>Tct p.P646S SLITRK3_uc003fek.3_Missense_Mutation_p.P646S|SLITRK3_uc021xgy.1_Missense_Mutation_p.P646S NM_014926 NP_055741 O94933 SLIK3_HUMAN Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA. 646 integral to membrane p.P646H(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CCCCCAGGAGGAGAAAACTCA 0.532000 HNSCC(40;0.11) 37 4 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157959919 157959919 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:157959919G>A uc003wno.3 - 5 735 c.614C>T c.(613-615)cCt>cTt p.P205L PTPRN2_uc003wnp.3_Missense_Mutation_p.P188L|PTPRN2_uc003wnq.3_Missense_Mutation_p.P205L|PTPRN2_uc003wnr.3_Missense_Mutation_p.P167L|PTPRN2_uc011kwa.2_Missense_Mutation_p.P228L NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 205 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GGACCCGGGAGGGTAGGTCAG 0.632000 67 8 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9348939 9348939 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:9348939G>A uc001qvl.3 - 9 1108 c.1079C>T c.(1078-1080)cCc>cTc p.P360L PZP_uc009zgl.3_Missense_Mutation_p.P229L NM_002864 NP_002855 Homo sapiens pregnancy-zone protein (PZP), mRNA. breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TGCAAAAAAGGGGATTCCTTG 0.418000 73 8 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3686406 3686406 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:3686406C>T uc001akv.2 + 10 1884 c.1803C>T c.(1801-1803)tcC>tcT p.S601S LOC388588_uc001akw.4_5'Flank NM_152492 NP_689705 Q2M243 CCD27_HUMAN Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA. 601 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) GGACCAAGTCCTTGGCCAACG 0.547000 156 11 0 0 1 0 0 ACD 65057 broad.mit.edu 37 16 67694180 67694180 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:67694180C>T uc002etq.4 - 0 539 c.202G>A c.(202-204)Gcc>Acc p.A68T ACD_uc002etp.4_Missense_Mutation_p.A68T|ACD_uc002etr.4_Missense_Mutation_p.A68T|ACD_uc010vjt.1_Missense_Mutation_p.A58T|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank NM_001082486 NP_001075955 Q96AP0 ACD_HUMAN Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA. 68 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GGCGCCCAGGCCCCGCCTTTC 0.731000 48 4 0 0 1 0 0 SEC14L4 284904 broad.mit.edu 37 22 30891572 30891572 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:30891572C>T uc003aid.2 - 3 332 c.232G>A c.(232-234)Gag>Aag p.E78K SEC14L4_uc011akz.1_Missense_Mutation_p.E78K|SEC14L4_uc003aie.2_Missense_Mutation_p.E63K|SEC14L4_uc003aif.2_Missense_Mutation_p.E24K NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA. 78 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) AGGCTCACCTCAGGGGGCTGC 0.592000 165 50 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150795738 150795738 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:150795738G>A uc001evr.2 - 13 1527 c.1326C>T c.(1324-1326)agC>agT p.S442S ARNT_uc001evs.2_Silent_p.S427S|ARNT_uc009wmd.2_Silent_p.S427S|ARNT_uc009wmb.2_Silent_p.S428S|ARNT_uc009wmc.2_Silent_p.S442S|ARNT_uc009wme.2_Intron|ARNT_uc010pcl.2_Silent_p.S426S NM_001668 NP_001659 P27540 ARNT_HUMAN Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA. 442 PAC. positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) AAGTAAAGGAGCTGGTTCTCA 0.403000 T ETV6 AML 93 17 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55623892 55623892 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:55623892C>T uc003pcq.3 - 5 1838 c.1126G>A c.(1126-1128)Gga>Aga p.G376R BMP5_uc011dxf.2_Intron NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 376 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) GCAGCGTATCCTTCTGGTGCT 0.343000 75 6 0 0 1 0 0 ZNF239 8187 broad.mit.edu 37 10 44052357 44052357 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:44052357G>A uc001jaw.4 - 1 1824 c.1171C>T c.(1171-1173)Cgc>Tgc p.R391C ZNF239_uc001jax.4_Missense_Mutation_p.R391C|ZNF239_uc009xmj.3_Missense_Mutation_p.R391C|ZNF239_uc009xmk.3_Missense_Mutation_p.R391C|ZNF239_uc021pph.1_Missense_Mutation_p.R391C NM_005674 NP_005665 Q16600 ZN239_HUMAN Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA. 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AGATGGATGCGAAGATCCGAG 0.522000 54 3 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069779 114069779 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:114069779G>A uc003ebi.3 - 3 1326 c.1146C>T c.(1144-1146)tcC>tcT p.S382S ZBTB20_uc003ebj.3_Silent_p.S309S|ZBTB20_uc010hqp.3_Silent_p.S309S|ZBTB20_uc003ebk.3_Silent_p.S309S|ZBTB20_uc003ebl.3_Silent_p.S309S|ZBTB20_uc003ebm.3_Silent_p.S309S|ZBTB20_uc003ebn.3_Silent_p.S309S|ZBTB20-AS1_uc003ebo.2_5'Flank NM_001164342 NP_056457 Q9HC78 ZBT20_HUMAN Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA. 382 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CGGTGCCTATGGAGGAGCTGA 0.652000 53 5 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93973581 93973581 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:93973581G>A uc003poe.3 - 8 2036 c.1795C>T c.(1795-1797)Cat>Tat p.H599Y EPHA7_uc003pof.3_Missense_Mutation_p.H594Y|EPHA7_uc011eac.2_Missense_Mutation_p.H599Y NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 599 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CACTTACAATGAAAGTAAAGC 0.348000 49 4 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560508 44560508 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:44560508G>A uc002lcr.1 - 0 1481 c.1128C>T c.(1126-1128)ttC>ttT p.F376F KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 376 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TGGGCTGCTCGAATTCCTCAG 0.507000 92 10 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152776591 152776591 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:152776591C>T uc021zhb.1 - 21 3085 c.2862G>A c.(2860-2862)ggG>ggA p.G954G SYNE1_uc003qot.4_Silent_p.G961G|SYNE1_uc003qou.4_Silent_p.G954G|SYNE1_uc010kjb.1_Silent_p.G937G|SYNE1_uc003qow.3_Silent_p.G249G|SYNE1_uc003qox.1_Silent_p.G470G|SYNE1_uc003qoz.2_Silent_p.G386G|SYNE1_uc003qoy.2_Silent_p.G521G NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 954 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere 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) CCTCTGGATCCCCCTTTTCCT 0.507000 HNSCC(10;0.0054) 60 5 0 0 1 0 0 ZBTB9 221504 broad.mit.edu 37 6 33423862 33423862 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:33423862C>T uc003oeq.3 + 1 1253 c.985C>T c.(985-987)Cct>Tct p.P329S ZBTB9_uc021ywp.1_Missense_Mutation_p.P329S NM_152735 NP_689948 Q96C00 ZBTB9_HUMAN Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA. 329 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 GTTCTTGTTGCCTTCAGGGCC 0.567000 85 11 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 28885851 28885851 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:28885851G>A uc001usb.3 - 26 3796 c.3511C>T c.(3511-3513)Cca>Tca p.P1171S FLT1_uc010aap.2_Missense_Mutation_p.P176S|FLT1_uc010aaq.2_Missense_Mutation_p.P296S|FLT1_uc001usa.3_Missense_Mutation_p.P389S NM_002019 NP_002010 P17948 VGFR1_HUMAN Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA. 1171 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway Golgi apparatus|extracellular space|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GCATTGATTGGGATGTAGTCT 0.388000 128 9 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089940 9089940 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9089940G>A uc002mkp.3 - 0 2079 c.1875C>T c.(1873-1875)caC>caT p.H625H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 625 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T624T(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGTGAGTAGGTGGGTTGTGC 0.577000 86 5 0 0 1 0 0 CD53 963 broad.mit.edu 37 1 111435035 111435035 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:111435035C>T uc001dzw.3 + 3 303 c.132C>T c.(130-132)ttC>ttT p.F44F CD53_uc001dzx.3_Silent_p.F44F|CD53_uc010owa.2_Silent_p.F44F NM_001040033 NP_001035122 P19397 CD53_HUMAN Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA. 44 signal transduction integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 17 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) GAGTGCTCTTCCATAACCTCC 0.507000 85 12 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42218945 42218945 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:42218945G>A uc002orl.3 + 2 601 c.480G>A c.(478-480)aaG>aaA p.K160K CEACAM5_uc010ehz.1_Silent_p.K160K|CEACAM5_uc002orj.1_Silent_p.K160K NM_004363 NP_004354 P06731 CEAM5_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA. 160 Ig-like 2. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TGGAGGACAAGGATGCTGTGG 0.567000 213 10 0 0 1 0 0 ZNF594 84622 broad.mit.edu 37 17 5087336 5087336 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:5087336G>A uc010cla.1 - 1 372 c.216C>T c.(214-216)atC>atT p.I72I ZNF594_uc021tol.1_Silent_p.I72I NM_032530 NP_115919 Q96JF6 ZN594_HUMAN Homo sapiens zinc finger protein 594 (ZNF594), mRNA. 72 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CTTTCTGGGGGATAATATGCA 0.448000 117 15 0 0 1 0 0 PAPLN 89932 broad.mit.edu 37 14 73720567 73720567 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:73720567C>T uc010ttx.2 + 10 1363 c.1200C>T c.(1198-1200)gcC>gcT p.A400A PAPLN_uc001xnw.4_Silent_p.A373A|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Silent_p.A400A NM_173462 NP_775733 O95428 PPN_HUMAN Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA. 400 TSP type-1 3. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) TCCAGGAGGCCGTGGAGGAGG 0.697000 67 5 0 0 1 0 0 TSHB 7252 broad.mit.edu 37 1 115576594 115576594 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:115576594G>A uc001efs.1 + 3 231 c.163_splice c.e3-1 p.D55_splice NM_000549 NP_000540 P01222 TSHB_HUMAN Homo sapiens thyroid stimulating hormone, beta (TSHB), mRNA. 55 G-protein coupled receptor protein signaling pathway|anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) CTTTCCCCAGGATATCAATGG 0.368000 165 17 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47835607 47835607 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:47835607C>T uc003tny.2 - 54 8369 c.8335G>A c.(8335-8337)Gct>Act p.A2779T C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 2779 cell-cell adhesion integral to membrane p.E2778E(1) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 ACCATCTCAGCCTCTTCCAAC 0.398000 141 9 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51900709 51900709 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:51900709C>T uc002iua.2 + 0 471 c.315C>T c.(313-315)gcC>gcT p.A105A KIF2B_uc010wna.1_Non-coding_Transcript NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN Homo sapiens kinesin family member 2B (KIF2B), mRNA. 105 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.S104S(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CCTCTTCGGCCATCAGGGACC 0.612000 234 19 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18234053 18234054 + Missense_Mutation DNP CC TA TA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:18234053_18234054CC>TA uc002nhz.4 + 5 339_340 c.339_340CC>TA c.(337-342)ctccac>ctTAac p.H114N NM_015016 NP_055831 O60307 MAST3_HUMAN Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA. 114 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 GGGAACGTCTCCACCAGCTTCC 0.614000 85 7 0 0 1 0 0 TMEM14E 645843 broad.mit.edu 37 3 152058325 152058325 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:152058325C>T uc010hvo.3 - 0 455 c.369G>A c.(367-369)atG>atA p.M123I MBNL1_uc003ezh.3_Intron|MBNL1_uc003ezi.3_Intron|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezm.3_Intron|MBNL1_uc003ezl.3_Intron|MBNL1_uc003ezp.3_Intron|MBNL1_uc003ezn.3_Intron|MBNL1_uc003ezo.3_Intron NM_001123228 NP_001116700 Q6UXP3 TM14E_HUMAN Homo sapiens transmembrane protein 14E (TMEM14E), mRNA. 123 integral to membrane lung(1) 1 TTTAATTCTTCATGAGTCCAA 0.343000 83 5 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7679270 7679270 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:7679270G>A uc021pmv.1 - 4 679 c.573C>T c.(571-573)atC>atT p.I191I ITIH5_uc001ijr.2_Silent_p.I191I NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA. 191 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.I191I(3) NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CGCTCTCCAGGATATTCACGT 0.652000 98 7 0 0 1 0 0 ELAVL4 1996 broad.mit.edu 37 1 50661409 50661409 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:50661409C>T uc001csb.2 + 4 953 c.685C>T c.(685-687)Ccc>Tcc p.P229S ELAVL4_uc001cry.3_Missense_Mutation_p.P232S|ELAVL4_uc001crz.3_Missense_Mutation_p.P229S|ELAVL4_uc001csa.3_Missense_Mutation_p.P246S|ELAVL4_uc001csc.3_Missense_Mutation_p.P229S|ELAVL4_uc009vyu.3_Missense_Mutation_p.P234S|ELAVL4_uc010omz.2_Missense_Mutation_p.P234S NM_021952 NP_068771 P26378 ELAV4_HUMAN Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA. 229 mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 CTACCAGTCCCCCAACCGGCG 0.602000 107 15 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34826139 34826139 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:34826139C>T uc003oju.4 + 13 2240 c.2006C>T c.(2005-2007)gCc>gTc p.A669V UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA. 669 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 TTGCATCATGCCTTTCAGATG 0.498000 68 6 0 0 1 0 0 OR52K1 390036 broad.mit.edu 37 11 4510548 4510548 + Missense_Mutation SNP G T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:4510548G>T uc001lza.2 + 0 440 c.418G>T c.(418-420)Ggg>Tgg p.G140W NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA. 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) GGTCCTGACTGGGTCCCTCAT 0.582000 49 3 0.00024832 0.000249524 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13871769 13871769 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:13871769C>T uc003jfd.2 - 22 3544 c.3502G>A c.(3502-3504)Gaa>Aaa p.E1168K NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1168 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E1168K(2) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GACTCAAATTCAGAAAGCAAG 0.403000 Kartagener syndrome 41 3 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65252542 65252542 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:65252542G>A uc001xht.3 - 15 3740 c.3689C>T c.(3688-3690)tCt>tTt p.S1230F SPTB_uc001xhr.3_Missense_Mutation_p.S1230F|SPTB_uc001xhs.3_Missense_Mutation_p.S1230F|SPTB_uc001xhu.3_Missense_Mutation_p.S1230F NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 1230 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTTGTTTCCAGAGTCCACAGG 0.547000 214 26 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141720809 141720809 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141720809C>T uc003vwy.3 + 4 538 c.484C>T c.(484-486)Cca>Tca p.P162S NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 162 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GCCTTCTTCACCAGTGTTTGG 0.333000 41 3 0 0 1 0 0 GDA 9615 broad.mit.edu 37 9 74838073 74838073 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:74838073C>T uc004air.3 + 6 853 c.644C>T c.(643-645)tCc>tTc p.S215F GDA_uc011lse.2_Missense_Mutation_p.S141F|GDA_uc004aiq.3_Missense_Mutation_p.S215F|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.S141F|GDA_uc004ais.3_Intron|GDA_uc004ait.1_Missense_Mutation_p.S141F NM_001242505 NP_001229434 Q9Y2T3 GUAD_HUMAN Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA. 215 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) CCACGTTTTTCCCTCTCCTGC 0.393000 102 8 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541703 55541703 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:55541703C>T uc010ril.2 + 0 790 c.790C>T c.(790-792)Cct>Tct p.P264S NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA. 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TTACTGTGTTCCTAATCCTAA 0.463000 37 3 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52861650 52861651 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:52861650_52861651GG>AA uc003gzi.3 - 3 1544_1545 c.1537_1538CC>TT c.(1537-1539)cca>TTa p.P513L NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA. 513 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 ACCGGCATGTGGATGTCTCTGG 0.525000 142 8 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55925560 55925560 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:55925560C>T uc003pcs.3 - 26 2618 c.2386G>A c.(2386-2388)Gtt>Att p.V796I COL21A1_uc010jzz.3_Missense_Mutation_p.V181I|COL21A1_uc011dxg.2_Missense_Mutation_p.V169I|COL21A1_uc011dxh.2_Missense_Mutation_p.V181I|COL21A1_uc003pcr.3_Missense_Mutation_p.V153I NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 796 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TCTGTGCAAACTTGTCGAATA 0.303000 50 7 0 0 1 0 0 PAPOLB 56903 broad.mit.edu 37 7 4900113 4900113 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:4900113C>T uc003snk.3 - 0 1513 c.1329G>A c.(1327-1329)ggG>ggA p.G443G RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron NM_020144 NP_064529 Q9NRJ5 PAPOB_HUMAN Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA. 442 RNA polyadenylation|mRNA processing|transcription, DNA-dependent nucleus ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) GCTTTTTTAGCCCTAACCCAA 0.378000 143 11 0 0 1 0 0 SYNM 23336 broad.mit.edu 37 15 99669977 99669977 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:99669977C>T uc002bup.3 + 4 1529 c.1409C>T c.(1408-1410)tCg>tTg p.S470L SYNM_uc002buo.3_Missense_Mutation_p.S470L|SYNM_uc002buq.3_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA. 471 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 GCCCGCGAGTCGTACCGGGAT 0.522000 31 5 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23111267 23111267 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:23111267C>T uc009vqj.1 + 2 654 c.509C>T c.(508-510)tCc>tTc p.S170F EPHB2_uc001bge.3_Missense_Mutation_p.S170F|EPHB2_uc001bgf.3_Missense_Mutation_p.S170F|EPHB2_uc010odu.2_Missense_Mutation_p.S170F NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 170 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GGACCTGTGTCCCGCAGCGGC 0.607000 34 4 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891372 18891372 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:18891372A>G uc001rdy.3 + 0 328 c.170A>G c.(169-171)cAa>cGa p.Q57R PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA. 57 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) CAACACTGCCAAAAATATTCT 0.438000 56 10 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23527682 23527682 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:23527682G>A uc003jgo.3 + 10 2667 c.2485G>A c.(2485-2487)Gag>Aag p.E829K NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 829 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.E829*(2) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 ACACACAGGGGAGAAGCCCTA 0.582000 HNSCC(3;0.000094) 122 7 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48764954 48764954 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:48764954C>T uc002isl.3 + 29 4418 c.4338C>T c.(4336-4338)atC>atT p.I1446I ABCC3_uc002isn.3_Silent_p.I200I NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 1446 ABC transporter 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) AGAGCCGCATCCTGGTTTTAG 0.627000 84 15 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22293689 22293689 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:22293689G>A uc001wbw.2 + 0 27 c.18G>A c.(16-18)acG>acA p.T6T TRA_uc021rpa.1_Intron|TCRA_uc010ais.1_Non-coding_Transcript SubName: Full=Alpha-chain C region; Flags: Fragment; AGCATCTGACGACCTTCTTGG 0.333000 91 6 0 0 1 0 0 MGC16703 113691 broad.mit.edu 37 22 21363317 21363317 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:21363317C>T uc002zty.4 - 2 c.1139G>A MGC16703_uc010gss.2_Non-coding_Transcript|THAP7-AS1_uc002ztv.3_Non-coding_Transcript Homo sapiens tubulin, alpha pseudogene (MGC16703), non-coding RNA. CGTAGGTGGCCAGGGGGAGGT 0.592000 84 8 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475307 140475307 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140475307C>T uc003lil.3 + 0 1071 c.933C>T c.(931-933)ttC>ttT p.F311F PCDHB2_uc003lim.1_5'UTR NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN Homo sapiens protocadherin beta 2 (PCDHB2), mRNA. 311 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACTGGATTTCGAATCCATCC 0.403000 105 8 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150912370 150912370 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:150912370G>A uc004fey.1 + 6 1619 c.1395G>A c.(1393-1395)gaG>gaA p.E465E NM_005140 NP_005131 Q16280 CNGA2_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA. 465 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) TGCTGGTAGAGCTGGTACTGA 0.522000 61 17 0 0 1 0 0 OR2F1 26211 broad.mit.edu 37 7 143657390 143657390 + Silent SNP G A A rs150878069 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:143657390G>A uc003wds.1 + 0 371 c.327G>A c.(325-327)ggG>ggA p.G109G NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G109G(2)|p.G108D(1)|p.G109E(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) CCTTGGGTGGGATTGAGTTTG 0.537000 128 12 0 0 1 0 0 ATAT1 79969 broad.mit.edu 37 6 30594998 30594998 + Silent SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:30594998T>A uc003nqv.3 + 0 336 c.18T>A c.(16-18)ccT>ccA p.P6P ATAT1_uc003nqr.4_Intron|ATAT1_uc003nqs.4_Intron|ATAT1_uc003rdd.3_Intron|ATAT1_uc003rdc.3_Intron|ATAT1_uc011dmm.2_Silent_p.P6P NM_001031722 NP_001026892 Q5SQI0 ATAT_HUMAN Homo sapiens alpha tubulin acetyltransferase 1 (ATAT1), transcript variant 1, mRNA. 0 tubulin N-acetyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 9 TGACCTGGCCTTTCTGCTTCC 0.527000 62 11 0 0 1 0 0 BAAT 570 broad.mit.edu 37 9 104133572 104133572 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:104133572C>T uc010mtd.3 - 1 224 c.115G>A c.(115-117)Gaa>Aaa p.E39K BAAT_uc004bbd.4_Missense_Mutation_p.E39K NM_001127610 NP_001692 Q14032 BAAT_HUMAN Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA. 39 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) TCTCCGTTTTCATCTTCCAGT 0.478000 58 5 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10998261 10998261 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:10998261C>T uc002yis.1 - 10 c.1992G>A P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCTTCCACTCCCTTAGTTTCA 0.388000 149 8 0 0 1 0 0 VN1R10P 387316 broad.mit.edu 37 6 27293418 27293418 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:27293418G>A uc010jqt.3 + 0 879 c.357G>A c.(355-357)gaG>gaA p.E119E NM_032030 NP_114419 SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b; CCATGTATGAGAACAGCCTAA 0.353000 64 4 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161160173 161160173 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:161160173G>A uc003qtm.4 + 15 2063 c.1951G>A c.(1951-1953)Gaa>Aaa p.E651K NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 651 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GCATGTTCAGGAAATAGAAGT 0.498000 94 6 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151124224 151124224 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:151124224G>A uc004ffi.3 - 6 947 c.893C>T c.(892-894)tCc>tTc p.S298F GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank NM_004961 NP_004952 P78334 GBRE_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA. 298 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GATCCAAAAGGAAACCCAGGA 0.512000 68 11 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318556 30318556 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:30318556C>T uc009xle.2 - 2 658 c.521G>A c.(520-522)cGa>cAa p.R174Q KIAA1462_uc001iux.3_Missense_Mutation_p.R174Q|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.R36Q NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 174 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACCTGACATTCGCAATTCTTC 0.547000 326 25 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139726123 139726123 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:139726123T>A uc003vvl.1 - 10 2528 c.1654A>T c.(1654-1656)Aac>Tac p.N552Y PARP12_uc010lnf.1_Non-coding_Transcript NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA. 552 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) TTCCCTCCGTTCTGCTTCTGC 0.572000 140 24 0 0 1 0 0 GPR77 27202 broad.mit.edu 37 19 47844845 47844845 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:47844845C>T uc002pgk.1 + 1 860 c.789C>T c.(787-789)tcC>tcT p.S263S GPR77_uc010ela.1_Silent_p.S263S|GPR77_uc021uwn.1_Silent_p.S263S NM_018485 NP_060955 Q9P296 C5ARL_HUMAN Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA. 263 chemotaxis integral to membrane|plasma membrane C5a anaphylatoxin receptor activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086) all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138) CCCCGAACTCCGCACTCCTGG 0.657000 78 7 0 0 1 0 0 SLC17A1 6568 broad.mit.edu 37 6 25799051 25799051 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:25799051G>A uc003nfh.4 - 11 1482 c.1366C>T c.(1366-1368)Cag>Tag p.Q456* SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.Q456*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.Q400* NM_005074 NP_005065 Q14916 NPT1_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA. 456 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 GCCCAGTCCTGAATTTCTGCT 0.428000 89 5 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174860 51174860 + Missense_Mutation SNP G C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:51174860G>C uc021tif.1 - 1 1304 c.982C>G c.(982-984)Caa>Gaa p.Q328E SALL1_uc021tid.1_Missense_Mutation_p.Q328E|SALL1_uc021tie.1_Missense_Mutation_p.Q425E|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 425 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CTTTTTCTTTGCTGGGCCAAG 0.498000 160 18 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105405031 105405031 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:105405031C>T uc003yly.4 - 7 1553 c.1424G>A c.(1423-1425)cGa>cAa p.R475Q DPYS_uc010mcf.1_Missense_Mutation_p.R45Q NM_001385 NP_001376 Q14117 DPYS_HUMAN Homo sapiens dihydropyrimidinase (DPYS), mRNA. 475 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTGCTTTATTCGTTTGTAAAT 0.473000 218 28 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108608652 108608652 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:108608652G>A uc002tdv.3 + 2 545 c.269G>A c.(268-270)gGa>gAa p.G90E SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.G90E|SLC5A7_uc010ywn.2_5'UTR NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA. 90 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) GCACCAATTGGATATTCTCTT 0.418000 54 6 0 0 1 0 0 PRSS58 136541 broad.mit.edu 37 7 141955402 141955402 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141955402G>A uc003vxb.3 - 1 452 c.132C>T c.(130-132)gtC>gtT p.V44V PRSS58_uc003vxc.4_Silent_p.V44V NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN Homo sapiens protease, serine, 58 (PRSS58), mRNA. 44 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 GGTGGATCAGGACTCCAGCGC 0.493000 75 15 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61527623 61527623 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:61527623G>A uc002ydr.2 - 7 2488 c.2176C>T c.(2176-2178)Cgc>Tgc p.R726C DIDO1_uc002yds.2_Missense_Mutation_p.R726C|DIDO1_uc002ydt.2_Missense_Mutation_p.R726C|DIDO1_uc002ydu.2_Missense_Mutation_p.R726C NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 726 TFIIS central. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ATGATGCTGCGATATTTACTC 0.418000 129 19 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37029310 37029310 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:37029310C>T uc004ddl.2 + 0 2879 c.2827C>T c.(2827-2829)Ctc>Ttc p.L943F NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 943 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 AGCATGGTACCTCAAGCCTAA 0.448000 75 22 0 0 1 0 0 TCF4 6925 broad.mit.edu 37 18 52928755 52928755 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:52928755C>T uc002lga.3 - 12 1298 c.1238G>A c.(1237-1239)gGa>gAa p.G413E TCF4_uc021ukg.1_Missense_Mutation_p.G151E|TCF4_uc021ukh.1_Missense_Mutation_p.G151E|TCF4_uc002lfw.4_Missense_Mutation_p.G151E|TCF4_uc010xdu.1_Missense_Mutation_p.G181E|TCF4_uc010xdv.1_Missense_Mutation_p.G181E|TCF4_uc021uki.1_Missense_Mutation_p.G240E|TCF4_uc002lfx.2_Missense_Mutation_p.G240E|TCF4_uc010xdw.1_Missense_Mutation_p.G181E|TCF4_uc002lfy.2_Missense_Mutation_p.G269E|TCF4_uc010xdx.1_Missense_Mutation_p.G287E|TCF4_uc021ukj.1_Missense_Mutation_p.G251E|TCF4_uc021ukk.1_Missense_Mutation_p.G251E|TCF4_uc021ukl.1_Missense_Mutation_p.G309E|TCF4_uc002lfz.2_Missense_Mutation_p.G311E|TCF4_uc010dph.1_Missense_Mutation_p.G311E|TCF4_uc010dpi.3_Missense_Mutation_p.G317E|TCF4_uc010xdy.1_Missense_Mutation_p.G287E NM_001243226 NP_001230155 P15884 ITF2_HUMAN Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA. 311 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) TGCCCCGCTTCCTCTATTTGC 0.443000 208 21 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94913385 94913385 + Missense_Mutation SNP G T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:94913385G>T uc002btj.3 + 10 1623 c.1558G>T c.(1558-1560)Gat>Tat p.D520Y MCTP2_uc002bti.2_Missense_Mutation_p.D520Y|MCTP2_uc010boj.3_Missense_Mutation_p.D249Y|MCTP2_uc010bok.3_Missense_Mutation_p.D520Y|MCTP2_uc002btk.4_Missense_Mutation_p.D108Y|MCTP2_uc002btl.3_Missense_Mutation_p.D108Y NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA. 520 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) AAAGGCAGCAGATCTCTTAGC 0.383000 31 3 0.014758 0.0148069 1 1 0 CCDC71 64925 broad.mit.edu 37 3 49201459 49201459 + Missense_Mutation SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:49201459T>G uc003cwg.4 - 1 321 c.183A>C c.(181-183)caA>caC p.Q61H CCDC71_uc021wxs.1_Missense_Mutation_p.Q61H NM_022903 NP_075054 Q8IV32 CCD71_HUMAN Homo sapiens coiled-coil domain containing 71 (CCDC71), mRNA. 61 endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GGATGGTAGGTTGGAAGCCAT 0.552000 82 8 0 0 1 0 0 LRRC16B 90668 broad.mit.edu 37 14 24524794 24524794 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:24524794G>A uc001wlj.2 + 8 805 c.648G>A c.(646-648)tgG>tgA p.W216* NM_138360 NP_612369 Q8ND23 LR16B_HUMAN Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA. 216 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) ACAACCAGTGGTTCACCAAAC 0.577000 209 27 0 0 1 0 0 PGAP1 80055 broad.mit.edu 37 2 197757952 197757952 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:197757952C>T uc002utw.3 - 7 1059 c.945G>A c.(943-945)aaG>aaA p.K315K PGAP1_uc002utx.3_Silent_p.K141K|PGAP1_uc002uty.1_Silent_p.K315K|PGAP1_uc010zgv.1_Non-coding_Transcript|PGAP1_uc010fsj.2_Silent_p.K141K NM_024989 NP_079265 Q75T13 PGAP1_HUMAN Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA. 315 C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity p.K315R(1) breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 ACAGTTTCTTCTTGGAATTTT 0.313000 39 3 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102483364 102483364 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:102483364T>C uc003pqp.4 + 13 2527 c.2234T>C c.(2233-2235)gTt>gCt p.V745A GRIK2_uc010kcw.3_Missense_Mutation_p.V745A|GRIK2_uc003pqo.4_Missense_Mutation_p.V745A|GRIK2_uc021zdk.1_Missense_Mutation_p.V558A|GRIK2_uc021zdl.1_Non-coding_Transcript NM_021956 NP_068775 Q13002 GRIK2_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA. 745 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) ATCGAGTTTGTTACCCAGCGG 0.468000 203 17 0 0 1 0 0 BCL6B 255877 broad.mit.edu 37 17 6927791 6927791 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:6927791C>T uc010clt.1 + 3 535 c.473C>T c.(472-474)cCa>cTa p.P158L BCL6B_uc002geg.2_Missense_Mutation_p.P158L NM_181844 NP_862827 Q8N143 BCL6B_HUMAN Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA. 158 Pro-rich. nucleus zinc ion binding skin(1) 1 GCCCCTCCACCAGGTAGTCCC 0.637000 155 16 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72267137 72267137 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:72267137C>T uc003xyu.3 - 2 644 c.4G>A c.(4-6)Gaa>Aaa p.E2K EYA1_uc003xyt.4_Intron|EYA1_uc003xyr.4_Missense_Mutation_p.E2K|EYA1_uc010lzf.3_5'UTR|EYA1_uc003xys.4_Missense_Mutation_p.E2K|EYA1_uc011lfe.2_Missense_Mutation_p.E2K|EYA1_uc003xyv.3_5'UTR NM_000503 NP_742055 Q99502 EYA1_HUMAN Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA. 2 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TCCTGCATTTCCATAGACCTA 0.428000 159 11 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55145155 55145155 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:55145155G>A uc003pcl.3 + 5 1333 c.1018G>A c.(1018-1020)Gag>Aag p.E340K HCRTR2_uc010jzv.3_Non-coding_Transcript NM_001526 NP_001517 O43614 OX2R_HUMAN Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA. 340 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TGAAGACAGAGAGACTGTGTA 0.363000 94 5 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101574973 101574973 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:101574973G>A uc003knm.3 - 11 2283 c.1996C>T c.(1996-1998)Cat>Tat p.H666Y NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA. 666 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) ACTAGCATATGGGCCATCTTG 0.323000 28 3 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4119157 4119157 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:4119157C>T uc003smx.3 + 21 3404 c.3265C>T c.(3265-3267)Cag>Tag p.Q1089* SDK1_uc010kso.3_Nonsense_Mutation_p.Q365* NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 1089 Fibronectin type-III 5. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CGCCACCCTTCAGTTCCGGCC 0.562000 171 19 0 0 1 0 0 PDE10A 10846 broad.mit.edu 37 6 165801887 165801887 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:165801887C>T uc003qun.3 - 17 1927 c.1682G>A c.(1681-1683)aGt>aAt p.S561N PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.S491N|PDE10A_uc003quo.3_Missense_Mutation_p.S571N NM_006661 NP_006652 Q9Y233 PDE10_HUMAN RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A; EC=3.1.4.17; EC=3.1.4.35; 561 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GTAGCTGTTACTGAAGCCCCT 0.507000 117 9 0 0 1 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269404 150269404 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:150269404C>T uc003whl.3 + 2 328 c.246C>T c.(244-246)gtC>gtT p.V82V GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Silent_p.V96V NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA. 82 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAGAACTTGTCGTAGTTGACA 0.498000 37 6 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169201578 169201578 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:169201578G>A uc003irp.3 - 13 2178 c.1886C>T c.(1885-1887)tCc>tTc p.S629F NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 629 ATP binding|ATP-dependent helicase activity|RNA binding p.S629F(3) breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) ACTTTTACAGGATTTCAAAAA 0.373000 47 6 0 0 1 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42299962 42299962 + Nonsense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:42299962C>A uc021sjp.1 - 2 358 c.358G>T c.(358-360)Gaa>Taa p.E120* NM_001206670 NP_001193599 Q3MJ16 PA24E_HUMAN Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA. 102 C2. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) TTGAAGCTTTCATTCCACTCT 0.537000 25 4 0.184627 0.184909 1 1 0 DCAF5 8816 broad.mit.edu 37 14 69520803 69520804 + Missense_Mutation DNP GT AC AC TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:69520803_69520804GT>AC uc001xkp.3 - 8 2818_2819 c.2599_2600AC>GT c.(2599-2601)act>GTt p.T867V DCAF5_uc001xkq.3_Missense_Mutation_p.T866V NM_003861 NP_003852 Q96JK2 DCAF5_HUMAN Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA. 867 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 ATCACGGTCAGTGTCTGAGTGT 0.564000 63 9 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166896092 166896092 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:166896092G>A uc002udo.4 - 15 2657 c.2430C>T c.(2428-2430)atC>atT p.I810I SCN1A_uc010fpk.3_Silent_p.I782I|SCN1A_uc021vsb.1_Silent_p.I799I NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 810 voltage-gated sodium channel complex voltage-gated sodium channel activity p.A810A(1) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CTGCTGTAAAGATCCCAGTGA 0.333000 30 6 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83330664 83330664 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:83330664G>A uc010uoi.2 - 24 3106 c.2929C>T c.(2929-2931)Cga>Tga p.R977* AP3B2_uc010uoh.2_Nonsense_Mutation_p.R958*|AP3B2_uc010uoj.2_Nonsense_Mutation_p.R926*|AP3B2_uc010bmp.3_Nonsense_Mutation_p.R21*|AP3B2_uc010uog.2_Nonsense_Mutation_p.R594* NM_004644 NP_004635 Q13367 AP3B2_HUMAN Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA. 958 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) TAGAACTGTCGGGTCTGGGTG 0.552000 44 3 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149497063 149497063 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:149497063C>T uc010lpk.3 + 47 7094 c.7094C>T c.(7093-7095)cCa>cTa p.P2365L NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 2368 cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTGGTGCCCCCACACCCTGTG 0.617000 92 4 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106405705 106405705 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:106405705C>T uc021ser.1 - 3033 c.50087G>A Parts of antibodies, mostly variable regions. GATGGTTATTCGACTTTTCAC 0.493000 191 39 0 0 1 0 0 LHFPL1 340596 broad.mit.edu 37 X 111914427 111914427 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:111914427C>T uc004epp.3 - 0 334 c.261G>A c.(259-261)gtG>gtA p.V87V LHFPL1_uc004epq.3_Silent_p.V64V|LHFPL1_uc010nqa.3_Intron|LHFPL1_uc010nqb.3_Silent_p.V64V NM_178175 NP_835469 Q86WI0 LHPL1_HUMAN Homo sapiens lipoma HMGIC fusion partner-like 1 (LHFPL1), mRNA. 64 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6) 13 CACATTCTTCCACCATGATCA 0.587000 74 7 0 0 1 0 0 SLC17A1 6568 broad.mit.edu 37 6 25813083 25813083 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:25813083G>A uc003nfh.4 - 7 989 c.873C>T c.(871-873)tcC>tcT p.S291S SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Silent_p.S291S|SLC17A1_uc010jqc.1_Intron NM_005074 NP_005065 Q14916 NPT1_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA. 291 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 CATGAAGCATGGAGTTGATAA 0.358000 30 4 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49339953 49339953 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:49339953G>A uc003cwq.2 - 9 1230 c.1151C>T c.(1150-1152)cCt>cTt p.P384L USP4_uc003cwp.2_Missense_Mutation_p.P114L|USP4_uc003cwr.2_Missense_Mutation_p.P337L NM_003363 NP_003354 Q13107 UBP4_HUMAN Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA. 384 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) AGAAAATTGAGGAGCAAAACG 0.393000 39 5 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9061169 9061169 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9061169G>A uc002mkp.3 - 2 26481 c.26277C>T c.(26275-26277)tcC>tcT p.S8759S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8761 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.Q8758E(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGATATTGTGGATTGAGCAG 0.502000 65 5 0 0 1 0 0 RILP 83547 broad.mit.edu 37 17 1549852 1549852 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:1549852G>A uc002ftd.3 - 7 1384 c.1090C>T c.(1090-1092)Ccc>Tcc p.P364S SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank NM_031430 NP_113618 Q96NA2 RILP_HUMAN Homo sapiens Rab interacting lysosomal protein (RILP), mRNA. 364 endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGCTTGCTGGGTGCAGGGCTG 0.597000 253 27 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56019765 56019765 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:56019765G>A uc010rjd.2 + 0 90 c.90G>A c.(88-90)agG>agA p.R30R NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA. 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) ATATATACAGGAATCCACTGA 0.358000 68 7 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15590553 15590553 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:15590553G>A uc001ioc.1 - 26 2781 c.2781C>T c.(2779-2781)atC>atT p.I927I ITGA8_uc010qcb.1_Silent_p.I912I NM_003638 NP_003629 P53708 ITA8_HUMAN Homo sapiens integrin, alpha 8 (ITGA8), mRNA. 927 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GTAAACACTCGATATTTGTAC 0.453000 43 5 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113662503 113662503 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:113662503G>A uc003ynu.3 - 18 3239 c.3080C>T c.(3079-3081)tCc>tTc p.S1027F CSMD3_uc003yns.3_Missense_Mutation_p.S299F|CSMD3_uc003ynt.3_Missense_Mutation_p.S987F|CSMD3_uc011lhx.2_Missense_Mutation_p.S923F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1027 Sushi 5. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGAGCCAATGGAGAAATCATG 0.433000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 160 15 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105798220 105798220 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:105798220C>T uc001kxr.3 - 44 3183 c.3014G>A c.(3013-3015)gGc>gAc p.G1005D NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA. 1005 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding p.P1004L(2) NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GCTGATAGAGCCCGGAGGCCC 0.607000 184 29 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 26029103 26029103 + Missense_Mutation SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:26029103A>C uc002rgs.2 - 2 468 c.247T>G c.(247-249)Ttg>Gtg p.L83V NM_018263 NP_060733 Q76L83 ASXL2_HUMAN Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA. 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTACCTTCAAAGTATATACT 0.393000 18 3 0 0 1 0 0 OR52I2 143502 broad.mit.edu 37 11 4608904 4608904 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:4608904T>A uc010qyh.2 + 0 884 c.862T>A c.(862-864)Tcc>Acc p.S288T NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA. 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGGATGGCATCCATCTATGC 0.512000 117 7 0 0 1 0 0 TIMP4 7079 broad.mit.edu 37 3 12198407 12198407 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:12198407C>T uc003bwo.3 - 2 776 c.265G>A c.(265-267)Gat>Aat p.D89N SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron NM_003256 NP_003247 Q99727 TIMP4_HUMAN Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA. 89 NTR. metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 TACTGAACATCCTTGACTTTC 0.388000 73 4 0 0 1 0 0 CNDP2 55748 broad.mit.edu 37 18 72178143 72178143 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:72178143C>T uc002llm.2 + 5 811 c.552C>T c.(550-552)ttC>ttT p.F184F CNDP2_uc002lln.2_Silent_p.F100F NM_018235 NP_060705 Q96KP4 CNDP2_HUMAN Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA. 184 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3) 24 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) AAGACACATTCTTTAAGGATG 0.502000 124 10 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170002394 170002394 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:170002394A>G uc002ues.3 - 69 13064 c.12851T>C c.(12850-12852)tTa>tCa p.L4284S NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 4284 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TATCCAGTATAACTGGTCTTC 0.403000 38 6 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81837505 81837505 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:81837505C>T uc010tvu.2 - 2 596 c.398G>A c.(397-399)tGg>tAg p.W133* STON2_uc001xvk.1_Nonsense_Mutation_p.W133* NM_033104 NP_149095 Q8WXE9 STON2_HUMAN Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA. 133 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) AGGGCATGTCCAGCAGGGCAT 0.468000 85 12 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189918898 189918899 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:189918898_189918899GG>AA uc002uqk.3 - 35 2706_2707 c.2431_2432CC>TT c.(2431-2433)cct>TTt p.P811F COL5A2_uc010frx.3_Missense_Mutation_p.P387F NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 811 PT -> LL (in Ref. 1; CAA75002 and 9; CAA28454). axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TTCTCCAGTAGGACCTGCCGGA 0.386000 74 8 0 0 1 0 0 ISG20 3669 broad.mit.edu 37 15 89198721 89198721 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:89198721C>T uc002bmv.1 + 3 798 c.505C>T c.(505-507)Cga>Tga p.R169* ISG20_uc002bmu.1_Non-coding_Transcript|ISG20_uc010upn.1_Non-coding_Transcript NM_002201 NP_002192 Q96AZ6 ISG20_HUMAN Homo sapiens interferon stimulated exonuclease gene 20kDa (ISG20), mRNA. 169 DNA catabolic process, exonucleolytic|RNA catabolic process|cell proliferation|response to virus|type I interferon-mediated signaling pathway PML body 3'-5'-exoribonuclease activity|RNA binding|exoribonuclease II activity|metal ion binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity large_intestine(1)|lung(3)|prostate(1) 5 Lung NSC(78;0.0554)|all_lung(78;0.103) BRCA - Breast invasive adenocarcinoma(143;0.12) CCAGAGAATCCGAGCCCGCCG 0.592000 88 5 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124339312 124339312 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:124339312G>A uc001lgk.1 + 9 1004 c.898G>A c.(898-900)Gat>Aat p.D300N DMBT1_uc001lgl.1_Missense_Mutation_p.D300N|DMBT1_uc001lgm.1_Missense_Mutation_p.D300N|DMBT1_uc021qaf.1_Missense_Mutation_p.D300N|DMBT1_uc021qag.1_Missense_Mutation_p.D300N|DMBT1_uc021qah.1_Missense_Mutation_p.D300N|DMBT1_uc009xzz.1_Missense_Mutation_p.D300N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.D152N NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 300 SRCR 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGTCCTGGATGATGTGCGCTG 0.597000 152 20 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11293491 11293491 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:11293491G>A uc001asd.3 - 14 2506 c.2385C>T c.(2383-2385)atC>atT p.I795I NM_004958 NP_004949 P42345 MTOR_HUMAN Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA. 795 T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GGACATTATTGATCACACCTG 0.403000 93 6 0 0 1 0 0 UBXN11 91544 broad.mit.edu 37 1 26620706 26620706 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:26620706G>A uc001blw.3 - 8 822 c.549C>T c.(547-549)ttC>ttT p.F183F UBXN11_uc001bly.3_Intron|UBXN11_uc001blz.1_Silent_p.F150F|UBXN11_uc001blx.3_Intron|UBXN11_uc001bma.3_Silent_p.F150F|UBXN11_uc010ofb.1_Silent_p.F108F|UBXN11_uc010ofc.1_Silent_p.F25F NM_183008 NP_892120 Q5T124 UBX11_HUMAN Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA. 183 cytoplasm|cytoskeleton endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 CTGGCTTCCAGAACTTCTTGG 0.587000 157 13 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165182897 165182897 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:165182897G>A uc001gcz.2 - 4 844 c.650C>T c.(649-651)tCc>tTc p.S217F LMX1A_uc021pdz.1_Missense_Mutation_p.S217F|LMX1A_uc021pdy.1_5'Flank|LMX1A_uc001gcw.2_5'Flank NM_001174069 NP_796372 Q8TE12 LMX1A_HUMAN Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA. 217 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) GGGCTTGGAGGATACTTCAAA 0.562000 116 5 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80328297 80328297 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:80328297C>T uc003hlu.3 - 0 1076 c.1058G>A c.(1057-1059)gGa>gAa p.G353E NM_033214 NP_149991 Q14410 GLPK2_HUMAN Homo sapiens glycerol kinase 2 (GK2), mRNA. 353 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 ATAAGAAGTTCCTACTTCTTT 0.443000 94 6 0 0 1 0 0 AP4M1 9179 broad.mit.edu 37 7 99700339 99700339 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:99700339C>T uc003utb.4 + 2 397 c.189C>T c.(187-189)ggC>ggT p.G63G MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Silent_p.G63G|AP4M1_uc010lgl.1_Silent_p.G63G|AP4M1_uc003utd.3_Silent_p.G63G|AP4M1_uc011kjh.2_Silent_p.G15G|AP4M1_uc003ute.4_5'UTR|AP4M1_uc003utf.4_5'UTR NM_004722 NP_004713 O00189 AP4M1_HUMAN Homo sapiens adaptor-related protein complex 4, mu 1 subunit (AP4M1), mRNA. 63 intracellular protein transport|vesicle-mediated transport Golgi trans cisterna|clathrin adaptor complex|coated pit transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GACACAGCGGCCTCTATTTGG 0.527000 113 6 0 0 1 0 0 CLEC3A 10143 broad.mit.edu 37 16 78056613 78056613 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:78056613G>A uc002ffh.4 + 0 171 c.90G>A c.(88-90)agG>agA p.R30R NM_005752 NP_005743 O75596 CLC3A_HUMAN Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA. 30 skeletal system development extracellular region sugar binding p.R30M(1) NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 TAAAAGCCAGGAAGCACAGCA 0.483000 60 5 0 0 1 0 0 MUC1 4582 broad.mit.edu 37 1 155162036 155162036 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:155162036C>T uc021pap.1 - 1 196 c.124G>A c.(124-126)Gga>Aga p.G42R MUC1_uc001fhz.3_5'Flank|MUC1_uc001fhy.3_5'Flank|MUC1_uc010pfb.2_5'UTR|MUC1_uc010pfh.2_Silent_p.V81V|MUC1_uc010pff.2_Silent_p.V81V|MUC1_uc010pfi.2_Silent_p.V81V|MUC1_uc010pfj.2_Silent_p.V81V|MUC1_uc010pfk.2_Non-coding_Transcript|MUC1_uc010pfl.2_Non-coding_Transcript|MUC1_uc010pfc.2_Non-coding_Transcript|MUC1_uc009wph.3_5'UTR|MUC1_uc010pfe.2_Non-coding_Transcript|MUC1_uc009wpi.3_5'UTR|MUC1_uc010pfg.2_Non-coding_Transcript|MUC1_uc010pfd.2_Silent_p.V7V|MUC1_uc009wpy.3_Non-coding_Transcript|MUC1_uc009wpu.3_Non-coding_Transcript|MUC1_uc010pfm.2_5'UTR|MUC1_uc001fiq.3_5'UTR|MUC1_uc009wqa.3_Silent_p.V7V|MUC1_uc010pfn.2_Missense_Mutation_p.G33R|MUC1_uc009wpn.3_Missense_Mutation_p.G42R|MUC1_uc010pfo.2_Silent_p.V7V|MUC1_uc009wpw.3_Missense_Mutation_p.G42R|MUC1_uc001fim.3_Missense_Mutation_p.G33R|MUC1_uc001fil.3_Missense_Mutation_p.G33R|MUC1_uc010pfp.2_Silent_p.V7V|MUC1_uc001fij.3_Missense_Mutation_p.G42R|MUC1_uc009wqc.3_Silent_p.V7V|MUC1_uc009wqd.3_Silent_p.V7V|MUC1_uc001fia.3_Missense_Mutation_p.G33R|MUC1_uc009wqb.3_5'UTR|MUC1_uc009wpx.3_Missense_Mutation_p.G42R|MUC1_uc010pfq.2_Silent_p.V7V|MUC1_uc001fid.3_Missense_Mutation_p.G33R|MUC1_uc001fit.3_5'UTR|MUC1_uc009wpz.3_Missense_Mutation_p.G42R|MUC1_uc001fii.3_Non-coding_Transcript|MUC1_uc001fik.3_Missense_Mutation_p.G33R|MUC1_uc009wpo.3_Missense_Mutation_p.G21R|MUC1_uc010pfr.2_Missense_Mutation_p.G42R|MUC1_uc001fih.3_Non-coding_Transcript|MUC1_uc001fio.3_Missense_Mutation_p.G33R|MUC1_uc009wqe.3_Missense_Mutation_p.G42R|MUC1_uc009wpl.3_Missense_Mutation_p.G42R|MUC1_uc009wpp.3_Missense_Mutation_p.G33R|MUC1_uc009wpm.3_Missense_Mutation_p.G33R|MUC1_uc009wpk.3_5'UTR|MUC1_uc010pfs.2_Non-coding_Transcript|MUC1_uc001fip.3_Silent_p.V7V|MUC1_uc021paq.1_Missense_Mutation_p.G33R|MUC1_uc009wqg.3_Silent_p.V7V|MUC1_uc009wqf.3_Silent_p.V7V|MUC1_uc001fic.3_Missense_Mutation_p.G33R|MUC1_uc009wps.3_Missense_Mutation_p.G42R|MUC1_uc001fie.3_Missense_Mutation_p.G33R|MUC1_uc009wpt.3_Missense_Mutation_p.G42R|MUC1_uc009wpq.3_Missense_Mutation_p.G21R|MUC1_uc009wpr.3_Missense_Mutation_p.G21R|MUC1_uc001fig.3_Missense_Mutation_p.G42R|MUC1_uc001fif.3_Missense_Mutation_p.G33R|MUC1_uc001fin.3_Missense_Mutation_p.G42R|MUC1_uc009wpj.3_Non-coding_Transcript|MUC1_uc009wpv.3_Silent_p.V7V|MUC1_uc001fib.3_Silent_p.V7V|MUC1_uc001fis.2_Missense_Mutation_p.G33R|MUC1_uc001fiv.2_Missense_Mutation_p.G42R|MUC1_uc001fiw.2_Missense_Mutation_p.G33R|MIR92B_uc021pas.1_5'Flank NM_001204286 NP_001191215 P15941 MUC1_HUMAN Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA. 810 apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCCTTTTCTCCACCTGGGGTA 0.517000 T IGH@ B-NHL 123 14 0 0 1 0 0 C19orf45 374877 broad.mit.edu 37 19 7571947 7571947 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:7571947G>A uc002mgm.2 + 7 1354 c.1213G>A c.(1213-1215)Gat>Aat p.D405N NM_198534 NP_940936 Q8NA69 CS045_HUMAN Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA. 405 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 TCCAGAATTCGATTTTTTAAC 0.577000 35 4 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7528303 7528303 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:7528303G>A uc010sge.2 - 9 2735 c.2709C>T c.(2707-2709)gtC>gtT p.V903V CD163L1_uc001qsy.3_Silent_p.V893V NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 893 SRCR 9. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CACGGGAACAGACAACTCCAA 0.453000 108 9 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68995601 68995601 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:68995601C>T uc003xxv.1 + 17 2032 c.2005C>T c.(2005-2007)Ctt>Ttt p.L669F PREX2_uc003xxu.1_Missense_Mutation_p.L669F|PREX2_uc011lez.1_Missense_Mutation_p.L604F NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 669 PDZ 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TCTAAGAGTTCTTGTGAGCAC 0.318000 50 6 0 0 1 0 0 ALKBH1 8846 broad.mit.edu 37 14 78140264 78140264 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:78140264G>A uc001xuc.1 - 5 1070 c.1061C>T c.(1060-1062)cCt>cTt p.P354L NM_006020 NP_006011 Q13686 ALKB1_HUMAN Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA. 354 DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.F353F(1) endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) GGGTTCTAGAGGGAAATTCTG 0.498000 73 7 0 0 1 0 0 SLC9B1 150159 broad.mit.edu 37 4 103870452 103870452 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:103870452A>T uc003hww.3 - 3 486 c.344T>A c.(343-345)aTt>aAt p.I115N SLC9B1_uc003hwu.3_Missense_Mutation_p.I115N|SLC9B1_uc010ilm.3_5'UTR|SLC9B1_uc003hwv.3_Intron|SLC9B1_uc011cev.2_Intron NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 115 integral to membrane solute:hydrogen antiporter activity AGGTATTCTAATGAGTTGTAA 0.338000 48 6 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454500 84454500 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:84454500G>A uc001vlk.3 - 0 2029 c.1143C>T c.(1141-1143)ttC>ttT p.F381F NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA. 381 integral to membrane p.L380I(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TATCTCGTAGGAAAAGCTCCT 0.468000 112 13 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14336794 14336794 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:14336794C>T uc003jff.3 + 10 2010 c.2004C>T c.(2002-2004)atC>atT p.I668I TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Silent_p.I619I|TRIO_uc003jfh.1_Silent_p.I317I NM_007118 NP_009049 O75962 TRIO_HUMAN Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA. 668 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) AGCGAAAGATCCTACTGGACA 0.483000 60 8 0 0 1 0 0 RDH5 5959 broad.mit.edu 37 12 56115531 56115531 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:56115531G>A uc001shk.3 + 2 552 c.369G>A c.(367-369)tgG>tgA p.W123* BLOC1S1_uc001shj.4_3'UTR|RDH5_uc021qyt.1_5'UTR|RDH5_uc010spt.1_Nonsense_Mutation_p.W123*|RDH5_uc010spu.1_Nonsense_Mutation_p.W26*|RDH5_uc001shl.3_Nonsense_Mutation_p.W123* NM_002905 NP_002896 Q92781 RDH1_HUMAN Homo sapiens retinol dehydrogenase 5 (11-cis/9-cis) (RDH5), transcript variant 2, mRNA. 123 response to stimulus|visual perception membrane binding|retinol dehydrogenase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1) 12 NADH(DB00157)|Vitamin A(DB00162) CCACACCATGGCTGACCCGGG 0.597000 80 6 0 0 1 0 0 ARMC5 79798 broad.mit.edu 37 16 31471313 31471313 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:31471313C>T uc010vfn.2 + 2 877 c.753C>T c.(751-753)ctC>ctT p.L251L ARMC5_uc010vfo.2_Silent_p.L188L|ARMC5_uc002ecc.3_Silent_p.L156L|ARMC5_uc002eca.4_Silent_p.L156L|ARMC5_uc002ecb.2_Silent_p.L156L|ARMC5_uc010vfp.2_Silent_p.L156L NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA. 156 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GAGGCATACTCCCTTTGGGTA 0.587000 116 9 0 0 1 0 0 C2orf50 130813 broad.mit.edu 37 2 11280648 11280648 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:11280648G>A uc010yji.1 + 1 552 c.270G>A c.(268-270)tgG>tgA p.W90* C2orf50_uc010yjj.1_Nonsense_Mutation_p.W90* NM_182500 NP_872306 Q96LR7 CB050_HUMAN Homo sapiens chromosome 2 open reading frame 50 (C2orf50), mRNA. 90 breast(1)|large_intestine(1)|upper_aerodigestive_tract(1) 3 all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134) TTCAGAACTGGAGTTTCCTGA 0.378000 118 5 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81888083 81888083 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:81888083G>A uc002fgt.3 + 2 406 c.228G>A c.(226-228)ggG>ggA p.G76G PLCG2_uc010chg.1_Silent_p.G76G NM_002661 NP_002652 P16885 PLCG2_HUMAN Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA. 76 PH. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TCCGCCCAGGGAAGAACTCCA 0.468000 99 8 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56953378 56953379 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:56953378_56953379GG>AA uc002qne.3 - 6 1776_1777 c.985_986CC>TT c.(985-987)cct>TTt p.P329F ZNF667_uc010etl.3_Missense_Mutation_p.P111F|ZNF667_uc002qnd.3_Missense_Mutation_p.P329F|ZNF667_uc010etm.3_Missense_Mutation_p.P272F NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA. 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P329T(2)|p.P329H(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GCATTTAAAAGGATTCTCTAAA 0.366000 96 4 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57769093 57769093 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:57769093G>A uc002yan.3 + 0 3019 c.3019G>A c.(3019-3021)Gac>Aac p.D1007N NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1007 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CATCCTGGAGGACCCCAGCTG 0.637000 61 5 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 180011162 180011162 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:180011162G>A uc002uni.4 - 7 754 c.604C>T c.(604-606)Cca>Tca p.P202S NM_178123 NP_835224 Q86VW0 SESD1_HUMAN Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA. 202 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) TCAACCGATGGAAGAAAGTTT 0.289000 77 4 0 0 1 0 0 ZNF678 339500 broad.mit.edu 37 1 227842052 227842052 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:227842052C>T uc021pjy.1 + 3 442 c.266C>T c.(265-267)tCc>tTc p.S89F ZNF678_uc001hqw.2_Missense_Mutation_p.S34F|ZNF678_uc009xet.2_Non-coding_Transcript|ZNF678_uc009xeu.2_Non-coding_Transcript NM_178549 NP_848644 F5GXA7 F5GXA7_HUMAN Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA. 89 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) TTATCTTATTCCATTCAAGAC 0.299000 55 5 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160124859 160124859 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:160124859G>A uc001fve.4 + 2 711 c.232G>A c.(232-234)Gaa>Aaa p.E78K ATP1A4_uc001fvf.4_Non-coding_Transcript NM_144699 NP_653300 Q13733 AT1A4_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA. 78 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.E78K(2) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AAGGGCAAAGGAAATCCTGAC 0.507000 169 16 0 0 1 0 0 RASGRP2 10235 broad.mit.edu 37 11 64494806 64494806 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:64494806C>T uc009ypu.3 - 15 2025 c.1798G>A c.(1798-1800)Gtg>Atg p.V600M RASGRP2_uc001oat.3_Missense_Mutation_p.V503M|RASGRP2_uc001oau.3_Missense_Mutation_p.V456M|RASGRP2_uc009ypv.3_Missense_Mutation_p.V600M|RASGRP2_uc009ypw.3_Missense_Mutation_p.V600M NM_001098671 NP_722541 Q7LDG7 GRP2_HUMAN Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA. 600 Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CCATCCTCCACCGTCTGTACC 0.602000 107 11 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187628027 187628027 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:187628027G>A uc003izf.3 - 1 3143 c.2955C>T c.(2953-2955)atC>atT p.I985I FAT1_uc010iso.1_Silent_p.I985I NM_005245 NP_005236 Q14517 FAT1_HUMAN Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA. 985 Cadherin 8. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ACTGCTGGACGATCCTAACTG 0.468000 HNSCC(5;0.00058) 91 11 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45402102 45402102 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:45402102A>G uc001zun.3 - 9 1320 c.1117T>C c.(1117-1119)Tac>Cac p.Y373H DUOX2_uc010bea.3_Missense_Mutation_p.Y373H NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 373 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CGAATCCAGTAGTTGTTGCAG 0.502000 103 11 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38671833 38671833 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:38671833G>A uc021wvo.1 - 1 413 c.361C>T c.(361-363)Cgg>Tgg p.R121W SCN5A_uc021wvk.1_Missense_Mutation_p.R121W|SCN5A_uc021wvl.1_Missense_Mutation_p.R121W|SCN5A_uc021wvm.1_Missense_Mutation_p.R121W|SCN5A_uc021wvn.1_Missense_Mutation_p.R121W|SCN5A_uc021wvp.1_Missense_Mutation_p.R121W|SCN5A_uc021wvq.1_Missense_Mutation_p.R121W|SCN5A_uc021wvr.1_Missense_Mutation_p.R121W|SCN5A_uc021wvs.1_Missense_Mutation_p.R121W|SCN5A_uc021wvt.1_Missense_Mutation_p.R121W|SCN5A_uc021wvu.1_Missense_Mutation_p.R121W|SCN5A_uc021wvv.1_Missense_Mutation_p.R121W NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 121 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GCCGCTCTCCGGATGGGGTGG 0.552000 156 9 0 0 1 0 0 NUP210P1 255330 broad.mit.edu 37 3 126382316 126382316 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:126382316G>A uc003eje.1 + 1 283 c.39G>A c.(37-39)gtG>gtA p.V13V Homo sapiens nucleoporin 210kDa pseudogene 1 (NUP210P1), non-coding RNA. TGCAGGTGGTGGATGCAGAGA 0.557000 117 13 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61833536 61833536 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:61833536C>T uc001jky.3 - 36 7441 c.7103G>A c.(7102-7104)gGa>gAa p.G2368E ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 2368 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GTTAATATCTCCCCGGGATAA 0.388000 80 4 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54798243 54798243 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:54798243G>A uc001sga.3 - 13 1502 c.1434C>T c.(1432-1434)tcC>tcT p.S478S NM_002205 NP_002196 P08648 ITA5_HUMAN Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA. 478 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 p.G477G(1) 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 CCACACCAAAGGACCCCACAA 0.493000 OREG0021554 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 445 56 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44004434 44004434 + Missense_Mutation SNP C T T rs147806364 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:44004434C>T uc003bdy.2 - 21 2923 c.2609G>A c.(2608-2610)cGg>cAg p.R870Q EFCAB6_uc003bdz.2_Missense_Mutation_p.R718Q|EFCAB6_uc010gzi.2_Missense_Mutation_p.R718Q|EFCAB6_uc010gzj.1_Intron NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 870 EF-hand 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CTTTATGTCCCGGCGTCGAAG 0.438000 62 17 0 0 1 0 0 HMGCL 3155 broad.mit.edu 37 1 24140701 24140701 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:24140701G>A uc001bib.3 - 4 520 c.476C>T c.(475-477)tCa>tTa p.S159L HMGCL_uc010oec.2_Intron|HMGCL_uc001bic.3_Missense_Mutation_p.S134L|HMGCL_uc009vqs.1_Intron|HMGCL_uc021oii.1_Intron NM_000191 NP_000182 P35914 HMGCL_HUMAN Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 159 acetoacetic acid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA lyase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188) AATATTGGCTGACTGCGCTGC 0.498000 143 17 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155263259 155263259 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:155263259G>A uc001fkb.4 - 7 1278 c.1239C>T c.(1237-1239)ttC>ttT p.F413F PKLR_uc001fka.4_Silent_p.F382F NM_000298 NP_000289 P30613 KPYR_HUMAN Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 413 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity p.F413F(2) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) CTTCCACAGGGAAGTTGCCCT 0.587000 60 6 0 0 1 0 0 ANXA7 310 broad.mit.edu 37 10 75157026 75157026 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:75157026G>A uc001jtz.2 - 3 339 c.266C>T c.(265-267)cCa>cTa p.P89L ANXA7_uc001jua.2_Missense_Mutation_p.P89L|ANXA7_uc010qki.1_Intron|ANXA7_uc009xre.3_Intron|ANXA7_uc009xrf.1_Intron NM_004034 NP_004025 P20073 ANXA7_HUMAN Homo sapiens annexin A7 (ANXA7), transcript variant 2, mRNA. 89 Repeat-rich region. calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 26 Prostate(51;0.0119) TCCTTGGCCTGGAGGAACTAG 0.418000 21 3 0 0 1 0 0 TMEM207 131920 broad.mit.edu 37 3 190167526 190167526 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:190167526G>A uc003fsj.2 - 0 140 c.73C>T c.(73-75)Cag>Tag p.Q25* NM_207316 NP_997199 Q6UWW9 TM207_HUMAN Homo sapiens transmembrane protein 207 (TMEM207), mRNA. 25 integral to membrane p.Q25*(2) endometrium(1)|large_intestine(2)|lung(4) 7 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.0176) ATAGTTACCTGGAATAGCGGC 0.408000 43 5 0 0 1 0 0 EEF1D 1936 broad.mit.edu 37 8 144662886 144662886 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:144662886G>A uc003yyq.2 - 5 1879 c.1650C>T c.(1648-1650)ccC>ccT p.P550P NAPRT1_uc003yym.4_5'Flank|NAPRT1_uc003yyn.4_5'Flank|NAPRT1_uc011lkh.2_5'Flank|NAPRT1_uc003yyo.4_5'Flank|EEF1D_uc003yyp.2_Silent_p.P476P|EEF1D_uc011lki.2_Silent_p.P134P|EEF1D_uc003yyv.3_Silent_p.P110P|EEF1D_uc003yyu.3_Silent_p.P134P|EEF1D_uc011lkk.2_Silent_p.P134P|EEF1D_uc003yyt.3_Silent_p.P500P|EEF1D_uc003yyr.3_Silent_p.P500P|EEF1D_uc003yys.3_Silent_p.P134P|EEF1D_uc011lkl.2_Silent_p.P115P NM_032378 NP_115754 P29692 EF1D_HUMAN Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA. 134 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CTTGGCGCATGGGAGATACGT 0.637000 145 13 0 0 1 0 0 OR13C5 138799 broad.mit.edu 37 9 107361157 107361157 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:107361157C>T uc011lvp.2 - 0 538 c.538G>A c.(538-540)Gaa>Aaa p.E180K NM_001004482 NP_001004482 Q8NGS8 O13C5_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA. 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 GCTAGAATTTCACAGGTGAAA 0.423000 123 27 0 0 1 0 0 GAN 8139 broad.mit.edu 37 16 81399011 81399011 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:81399011G>A uc002fgo.3 + 8 1578 c.1430G>A c.(1429-1431)cGa>cAa p.R477Q NM_022041 NP_071324 Q9H2C0 GAN_HUMAN Homo sapiens gigaxonin (GAN), mRNA. 477 cell death cytoplasm|neurofilament protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2) 25 Colorectal(91;0.153) GGGGGAGTCCGAAGTCGTGAG 0.498000 203 21 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9066595 9066595 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:9066595C>T uc003jek.2 - 16 2949 c.2237G>A c.(2236-2238)gGa>gAa p.G746E NM_003966 NP_003957 Q13591 SEM5A_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA. 746 TSP type-1 4. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 TCTCTGTCTTCCCACTTCCAG 0.542000 192 12 0 0 1 0 0 TBC1D3 729873 broad.mit.edu 37 17 36288215 36288215 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:36288215G>A uc010wdk.1 + 4 485 c.484G>A c.(484-486)Gga>Aga p.G162R TBC1D3_uc002hoo.2_Missense_Mutation_p.G101R|TBC1D3_uc002hop.2_Non-coding_Transcript|TBC1D3_uc010wdj.1_Missense_Mutation_p.G21R|TBC1D3_uc010cvf.1_Missense_Mutation_p.G101R|TBC1D3_uc002hoq.2_Missense_Mutation_p.G101R|DQ586040_uc002hpl.3_5'Flank|DQ587906_uc002hor.3_5'Flank|DQ585853_uc021tvy.1_5'Flank NM_032258 NP_115634 Q8IZP1 TBC3A_HUMAN Homo sapiens TBC1 domain family, member 3F (TBC1D3F), mRNA. 101 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(7;2.97e-12) Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGCGTACAAGGGAATGCCCAT 0.557000 406 33 0 0 1 0 0 PATL1 219988 broad.mit.edu 37 11 59416968 59416968 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:59416968T>A uc001noe.4 - 13 1843 c.1700A>T c.(1699-1701)gAc>gTc p.D567V PATL1_uc009yms.1_Missense_Mutation_p.D537V|PATL1_uc010rkw.2_Missense_Mutation_p.D272V NM_152716 NP_689929 Q86TB9 PATL1_HUMAN Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA. 567 Region C. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body RNA binding|protein binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 CCTTAAGTTGTCATACATGCT 0.428000 44 3 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32020585 32020585 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:32020585G>A uc003nzl.2 - 25 9173 c.8971C>T c.(8971-8973)Ccc>Tcc p.P2991S NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 3038 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACCACCTGGGGCCGCCCGTCC 0.662000 59 9 0 0 1 0 0 PPIF 10105 broad.mit.edu 37 10 81109470 81109470 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:81109470C>T uc001kai.3 + 2 361 c.276C>T c.(274-276)ggC>ggT p.G92G PPIF_uc001kaj.3_Silent_p.G92G NM_005729 NP_005720 P30405 PPIF_HUMAN Homo sapiens peptidylprolyl isomerase F (PPIF), nuclear gene encoding mitochondrial protein, mRNA. 92 PPIase cyclophilin-type. protein folding membrane fraction|mitochondrial matrix peptidyl-prolyl cis-trans isomerase activity endometrium(2)|lung(2)|skin(2) 6 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Dimethyl sulfoxide(DB01093)|L-Proline(DB00172) GCTACAAAGGCTCCACCTTCC 0.557000 60 4 0 0 1 0 0 KLHL14 57565 broad.mit.edu 37 18 30350423 30350423 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:30350423G>A uc002kxm.1 - 1 520 c.132C>T c.(130-132)ttC>ttT p.F44F NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA. 44 BTB. cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 TGTGGCAATGGAACTGCTGGC 0.672000 87 5 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47593304 47593304 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:47593304G>A uc003gxk.1 + 22 4351 c.4187G>A c.(4186-4188)gGa>gAa p.G1396E ATP10D_uc003gxl.1_Missense_Mutation_p.G644E NM_020453 NP_065186 Q9P241 AT10D_HUMAN Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA. 1396 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 ATTGAGCAAGGAAACTTATCT 0.458000 86 6 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32257851 32257851 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:32257851G>A uc001bts.1 - 14 2985 c.2927C>T c.(2926-2928)cCc>cTc p.P976L SPOCD1_uc001btr.1_Missense_Mutation_p.P64L|SPOCD1_uc001btu.3_Missense_Mutation_p.P976L|SPOCD1_uc001btv.3_Missense_Mutation_p.P469L NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA. 976 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) GGTGGGCAGGGGCTGGAAGGC 0.652000 21 7 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92848715 92848715 + Silent SNP G C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:92848715G>C uc011khy.2 - 2 221 c.198C>G c.(196-198)ggC>ggG p.G66G HEPACAM2_uc003uml.3_Silent_p.G31G|HEPACAM2_uc010lff.3_Silent_p.G31G|HEPACAM2_uc003umm.3_Silent_p.G43G NM_198151 NP_937794 A8MVW5 HECA2_HUMAN Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA. 43 integral to membrane p.G31G(1)|p.G43G(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 GACCTCTGACGCCATGGACAG 0.517000 89 6 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94471002 94471002 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:94471002C>T uc001dqh.3 - 43 6246 c.6142G>A c.(6142-6144)Gaa>Aaa p.E2048K ABCA4_uc001dqi.1_Missense_Mutation_p.E167K NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 2048 ABC transporter 2. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances p.I2047I(1) NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TTCACCTTTTCGATTTCTTCT 0.448000 146 11 0 0 1 0 0 MICALL2 79778 broad.mit.edu 37 7 1478579 1478579 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:1478579G>A uc003skj.4 - 9 2166 c.2019C>T c.(2017-2019)ctC>ctT p.L673L MICALL2_uc003ski.4_Silent_p.L160L NM_182924 NP_891554 Q8IY33 MILK2_HUMAN Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA. 673 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) CACAAACGTCGAGGCTGGCAG 0.672000 35 12 0 0 1 0 0 C7orf53 286006 broad.mit.edu 37 7 112129885 112129885 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:112129885G>A uc011kmq.2 + 3 412 c.277G>A c.(277-279)Gat>Aat p.D93N C7orf53_uc003vgl.3_Non-coding_Transcript|C7orf53_uc003vgm.3_Missense_Mutation_p.D93N NM_001134468 NP_872403 Q8N8F7 CG053_HUMAN Homo sapiens chromosome 7 open reading frame 53 (C7orf53), transcript variant 2, mRNA. 93 integral to membrane endometrium(1)|large_intestine(2)|ovary(1) 4 AAACAAGATGGATGATGTGTC 0.388000 68 5 0 0 1 0 0 AGPHD1 123688 broad.mit.edu 37 15 78819766 78819766 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:78819766C>T uc010unc.2 + 3 635 c.522C>T c.(520-522)ttC>ttT p.F174F AGPHD1_uc002bdt.3_Silent_p.F174F|AGPHD1_uc010ble.3_Silent_p.F174F NM_001013619 NP_001013641 A2RU49 AGPD1_HUMAN Homo sapiens aminoglycoside phosphotransferase domain containing 1 (AGPHD1), transcript variant 1, mRNA. 174 cytoplasm kinase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2) 9 GGGAGAACTTCATCTGGAATC 0.423000 107 9 0 0 1 0 0 NAT2 10 broad.mit.edu 37 8 18258356 18258356 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:18258356C>T uc022asl.1 + 0 843 c.843C>T c.(841-843)ccC>ccT p.P281P NAT2_uc003wyw.1_Silent_p.P281P NM_000015 NP_000006 P11245 ARY2_HUMAN Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA. 281 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2) 12 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) ATCTCGTGCCCAAACCTGGTG 0.378000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 59 5 0 0 1 0 0 AKR1D1 6718 broad.mit.edu 37 7 137776630 137776630 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:137776630G>A uc003vtz.3 + 3 465 c.378_splice c.e3+1 p.K126_splice AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqb.1_Splice_Site_p.K126_splice|AKR1D1_uc011kqc.1_Splice_Site|AKR1D1_uc011kqf.2_Splice_Site_p.K126_splice|AKR1D1_uc011kqe.1_Splice_Site_p.K126_splice|AKR1D1_uc010lmy.1_Splice_Site NM_005989 NP_005980 P51857 AK1D1_HUMAN Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA. 126 C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 TGGCCTTTAAGGTGAGTTCAG 0.512000 104 9 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940786 144940786 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:144940786C>T uc003zaa.1 - 0 6649 c.6636G>A c.(6634-6636)gaG>gaA p.E2212E NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2212 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGCGGTCGTCCTCCATGAGCT 0.622000 114 10 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23657640 23657640 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:23657640C>T uc002zww.3 + 22 4343 c.3747C>T c.(3745-3747)ttC>ttT p.F1249F BCR_uc002zwx.3_Silent_p.F1205F|BCR_uc011aiy.2_Silent_p.F838F NM_004327 NP_004318 P11274 BCR_HUMAN Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA. 1249 regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 TGCTGTACTTCCTGCAGCTGG 0.622000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 91 10 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 124989728 124989728 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:124989728C>T uc003yqw.3 + 9 1148 c.942C>T c.(940-942)ttC>ttT p.F314F NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 314 C2 2. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AGGAAATGTTCCCTCCCTTGT 0.502000 117 11 0 0 1 0 0 LCA5L 150082 broad.mit.edu 37 21 40800157 40800157 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:40800157G>A uc002yxu.3 - 3 576 c.263C>T c.(262-264)cCt>cTt p.P88L LCA5L_uc002yxv.3_Missense_Mutation_p.P88L|LCA5L_uc021wji.1_Intron|LCA5L_uc002yxw.2_Missense_Mutation_p.P88L|LCA5L_uc002yxy.3_Non-coding_Transcript NM_152505 NP_689718 O95447 LCA5L_HUMAN Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA. 88 breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 24 Prostate(19;1.2e-06) TTTTACCACAGGCTGCTTTAA 0.333000 65 7 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215972435 215972435 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:215972435G>A uc001hku.1 - 49 10159 c.9772C>T c.(9772-9774)Cgg>Tgg p.R3258W NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3258 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.R3258R(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACAGAAACCCGATTGTGCTGT 0.423000 HNSCC(13;0.011) 18 3 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56572419 56572419 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:56572419G>A uc002iwj.2 - 15 3194 c.3084C>T c.(3082-3084)atC>atT p.I1028I NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN Homo sapiens myotubularin related protein 4 (MTMR4), mRNA. 1028 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACCCTGCTTCGATTTGCCGTA 0.557000 143 13 0 0 1 0 0 TRIM49 57093 broad.mit.edu 37 11 89537428 89537428 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:89537428C>T uc001pdb.3 - 2 539 c.210G>A c.(208-210)ttG>ttA p.L70L NM_020358 NP_065091 P0CI25 TRI49_HUMAN Homo sapiens tripartite motif containing 49 (TRIM49), mRNA. 70 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1) 27 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) CCATCTTCTTCAAATGAATGT 0.443000 41 5 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11520840 11520840 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:11520840C>T uc002gne.3 + 4 1085 c.1017C>T c.(1015-1017)ctC>ctT p.L339L NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 339 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGCCCCTGCTCCACGTGGTCT 0.597000 88 12 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145393509 145393509 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:145393509C>T uc003lnt.3 + 4 1182 c.944C>T c.(943-945)cCt>cTt p.P315L SH3RF2_uc011dbl.1_Missense_Mutation_p.P315L NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA. 315 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTCCATTCTCCTTCAGGGCGC 0.577000 118 10 0 0 1 0 0 AKAP3 10566 broad.mit.edu 37 12 4736296 4736296 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:4736296C>T uc001qnb.4 - 3 2016 c.1772G>A c.(1771-1773)aGg>aAg p.R591K NM_006422 NP_006413 O75969 AKAP3_HUMAN Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA. 591 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding p.R591M(3) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 GAAAACACTCCTTAGGTCCTT 0.463000 112 10 0 0 1 0 0 GCET2 257144 broad.mit.edu 37 3 111845880 111845880 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:111845880C>T uc021xcl.1 - 4 335 c.150_splice c.e4-1 p.W50_splice C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dys.2_Splice_Site_p.W48_splice|GCET2_uc021xcm.1_Splice_Site_p.R33_splice NM_001190259 NP_001177188 Q8N6F7 GCET2_HUMAN Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA. 48 mitochondrion endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 8 GTATTTTTTTCCTGTAAAAGA 0.284000 26 3 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70877936 70877936 + Missense_Mutation SNP G A A rs149953250 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:70877936G>A uc003pfc.1 + 37 2582 c.2465G>A c.(2464-2466)cGa>cAa p.R822Q NM_001858 NP_001849 Q14993 COJA1_HUMAN Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA. 822 GIPFNERN -> VSCSRLKI (in Ref. 6; AAA36358). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging p.E821Q(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 TTTAATGAACGAAACGGCATG 0.284000 73 5 0 0 1 0 0 C3orf39 84892 broad.mit.edu 37 3 43121648 43121648 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:43121648G>A uc003cmr.1 - 1 1619 c.1276C>T c.(1276-1278)Ctg>Ttg p.L426L C3orf39_uc003cmq.1_Silent_p.L426L|C3orf39_uc021wwn.1_Silent_p.L426L NM_032806 NP_116195 Q8NAT1 AGO61_HUMAN Homo sapiens chromosome 3 open reading frame 39 (C3orf39), mRNA. 426 extracellular region transferase activity, transferring glycosyl groups cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 26 KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718) CGGCTTTGCAGGATACGGGCT 0.612000 38 10 0 0 1 0 0 IL1F10 84639 broad.mit.edu 37 2 113832845 113832845 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:113832845C>T uc002tiu.3 + 4 438 c.363C>T c.(361-363)ttC>ttT p.F121F IL1F10_uc002tiv.3_Silent_p.F121F|IL1F10_uc002tiw.3_Silent_p.F113F NM_173161 NP_775184 Q8WWZ1 IL1FA_HUMAN Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA. 121 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 CTGGCTGGTTCCTGTGTGGCC 0.592000 88 4 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154185423 154185423 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:154185423G>A uc004fmt.3 - 10 1732 c.1561C>T c.(1561-1563)Cca>Tca p.P521S NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 521 F5/8 type A 2.|Plastocyanin-like 3. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GGCAGAATTGGAAAATCCTTC 0.383000 60 18 0 0 1 0 0 ARGFX 503582 broad.mit.edu 37 3 121305151 121305151 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:121305151C>T uc003eef.3 + 4 747 c.652C>T c.(652-654)Cct>Tct p.P218S NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN Homo sapiens arginine-fifty homeobox (ARGFX), mRNA. 218 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) GGCCTCGGTTCCTGCTTTGTA 0.453000 99 12 0 0 1 0 0 OR4C46 119749 broad.mit.edu 37 11 51515755 51515755 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:51515755C>T uc010ric.2 + 0 474 c.474C>T c.(472-474)atC>atT p.I158I NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA. 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q157R(1)|p.Q157H(1) endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 CCATACAGATCCTCTTCATCT 0.468000 85 6 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807172 143807172 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:143807172C>T uc011ktz.2 + 0 497 c.497C>T c.(496-498)cCc>cTc p.P166L NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA. 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) CTAAGGTTGCCCTTCTGTGGG 0.522000 77 8 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074058 9074058 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9074058G>A uc002mkp.3 - 2 13592 c.13388C>T c.(13387-13389)aCc>aTc p.T4463I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4465 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGAGGTATGGTTGTGACCAA 0.507000 59 5 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263294 34263294 + Missense_Mutation SNP G T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:34263294G>T uc002nus.4 + 4 1106 c.601G>T c.(601-603)Ggc>Tgc p.G201C CHST8_uc002nut.4_Missense_Mutation_p.G201C|CHST8_uc002nuu.3_Missense_Mutation_p.G201C NM_001127895 NP_071912 Q9H2A9 CHST8_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA. 201 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity p.G201G(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) GCCCAAGGCCGGCTGCTCCAA 0.687000 65 5 5.9392e-07 5.99094e-07 1 1 0 SLC2A10 81031 broad.mit.edu 37 20 45354264 45354264 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:45354264G>A uc002xsl.3 + 1 686 c.589G>A c.(589-591)Gac>Aac p.D197N NM_030777 NP_110404 O95528 GTR10_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA. 197 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) AACACACAAGGACCTCATCCC 0.617000 89 12 0 0 1 0 0 USP41 373856 broad.mit.edu 37 22 20729854 20729854 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:20729854T>A uc011ahq.1 - 1 170 c.104A>T c.(103-105)aAg>aTg p.K35M USP41_uc011ahp.1_5'Flank RecName: Full=Putative ubiquitin carboxyl-terminal hydrolase 41; EC=3.4.19.12; AltName: Full=Deubiquitinating enzyme 41; AltName: Full=Ubiquitin thiolesterase 41; AltName: Full=Ubiquitin-specific-processing protease 41; endometrium(1)|kidney(1)|lung(2)|skin(1) 5 GTCCTGCATCTTCTCCAGCAG 0.597000 42 5 0 0 1 0 0 MPL 4352 broad.mit.edu 37 1 43805058 43805058 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:43805058C>T uc001ciw.3 + 3 553 c.508C>T c.(508-510)Cgc>Tgc p.R170C MPL_uc001civ.3_Missense_Mutation_p.R170C|MPL_uc009vwr.3_Missense_Mutation_p.R163C NM_005373 NP_005364 P40238 TPOR_HUMAN Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA. 170 Fibronectin type-III 1. cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GTACGAACTCCGCTATGGCCC 0.572000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 91 13 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152453312 152453312 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:152453312G>A uc021zhb.1 - 141 26262 c.26039C>T c.(26038-26040)aCc>aTc p.T8680I SYNE1_uc003qos.4_Missense_Mutation_p.T3204I|SYNE1_uc003qot.4_Missense_Mutation_p.T8632I|SYNE1_uc003qou.4_Missense_Mutation_p.T8680I|SYNE1_uc011eez.2_Missense_Mutation_p.T882I|SYNE1_uc003qoq.4_Missense_Mutation_p.T882I|SYNE1_uc003qor.4_Missense_Mutation_p.T1603I NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 8680 Ser-rich. Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding p.T8680T(1) 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) AGACCCTGAGGTGTCCAGTTC 0.507000 HNSCC(10;0.0054) 161 16 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10366878 10366878 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:10366878G>A uc002gmn.3 - 7 842 c.731C>T c.(730-732)tCc>tTc p.S244F AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 244 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 AAAGCGAGAGGAGTTGTCATT 0.438000 92 10 0 0 1 0 0 KATNAL2 83473 broad.mit.edu 37 18 44593483 44593483 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:44593483C>T uc002lco.3 + 7 796 c.602C>T c.(601-603)cCt>cTt p.P201L KATNAL2_uc010dnq.1_Intron NM_031303 NP_112593 Q8IYT4 KATL2_HUMAN Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA. 273 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity p.P201H(2) central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 27 GTTGTGTATCCTATAAGGGTA 0.433000 31 3 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17698376 17698376 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:17698376C>T uc002grm.3 + 2 2583 c.2114C>T c.(2113-2115)cCt>cTt p.P705L RAI1_uc002grn.1_Missense_Mutation_p.P705L NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN Homo sapiens retinoic acid induced 1 (RAI1), mRNA. 705 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) ACAACTGGTCCTCTCTCCTTT 0.592000 91 8 0 0 1 0 0 OR4E2 26686 broad.mit.edu 37 14 22133558 22133558 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:22133558G>A uc010tmd.2 + 0 262 c.262G>A c.(262-264)Gaa>Aaa p.E88K NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA. 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TTTGCTTTTAGAAAGAAAGAC 0.443000 201 16 0 0 1 0 0 RBCK1 10616 broad.mit.edu 37 20 400039 400039 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:400039C>T uc002wdp.4 + 4 1202 c.509C>T c.(508-510)cCa>cTa p.P170L RBCK1_uc010zpl.1_Missense_Mutation_p.P170L|RBCK1_uc010zpm.1_Non-coding_Transcript|RBCK1_uc002wdq.4_Missense_Mutation_p.P128L|RBCK1_uc010fzy.3_Non-coding_Transcript|RBCK1_uc002wdr.4_Nonsense_Mutation_p.Q54* NM_031229 NP_112506 Q9BYM8 HOIL1_HUMAN Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA. 170 Interaction with IRF3.|Interaction with TAB2. T cell receptor signaling pathway|interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(1)|lung(4) 5 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) CCTCTGGAGCCAGGCCCCCCA 0.672000 37 6 0 0 1 0 0 AP1B1 162 broad.mit.edu 37 22 29752421 29752421 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:29752421G>A uc003afj.3 - 5 897 c.710C>T c.(709-711)gCc>gTc p.A237V AP1B1_uc003afl.3_Missense_Mutation_p.A237V|AP1B1_uc003afi.3_Missense_Mutation_p.A237V NM_001127 NP_001118 Q10567 AP1B1_HUMAN Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA. 237 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 TCACCTCTGGGCCTCGCGGTC 0.637000 35 3 0 0 1 0 0 DUSP16 80824 broad.mit.edu 37 12 12630651 12630651 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:12630651C>T uc001rao.2 - 6 1877 c.1114G>A c.(1114-1116)Gag>Aag p.E372K DUSP16_uc001ran.2_Missense_Mutation_p.E224K NM_030640 NP_085143 Q9BY84 DUS16_HUMAN Homo sapiens dual specificity phosphatase 16 (DUSP16), mRNA. 372 MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive|inactivation of MAPK activity cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3) 26 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) GGGCTGTCCTCTAACAGCGAC 0.622000 41 7 0 0 1 0 0 PKNOX1 5316 broad.mit.edu 37 21 44433325 44433325 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:44433325C>T uc002zcq.1 + 4 687 c.499C>T c.(499-501)Ccg>Tcg p.P167S PKNOX1_uc002zcp.1_Missense_Mutation_p.P167S|PKNOX1_uc011aex.1_Missense_Mutation_p.P50S|PKNOX1_uc002zcr.3_Missense_Mutation_p.P167S NM_004571 NP_004562 P55347 PKNX1_HUMAN Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA. 167 sequence-specific DNA binding cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 GCCTGGAAGCCCGTACTCACC 0.473000 103 5 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108179190 108179190 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:108179190C>T uc003dxa.1 - 17 2006 c.1949G>A c.(1948-1950)cGa>cAa p.R650Q NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 650 Myosin head-like. myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TCCTTTCTTTCGTTTCTTCTC 0.318000 14 3 0 0 1 0 0 CYP4F3 4051 broad.mit.edu 37 19 15769333 15769333 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:15769333C>T uc010xok.2 + 10 1332 c.1282C>T c.(1282-1284)Cat>Tat p.H428Y CYP4F3_uc010xol.2_Missense_Mutation_p.H428Y|CYP4F3_uc002nbj.3_Missense_Mutation_p.H428Y|CYP4F3_uc010xom.2_Missense_Mutation_p.H279Y|CYP4F3_uc002nbk.3_Missense_Mutation_p.H428Y|CYP4F3_uc010xon.2_Missense_Mutation_p.H138Y NM_001199208 NP_001186137 Q08477 CP4F3_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA. 428 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TTTTGGAACCCATCACAACCC 0.597000 347 31 0 0 1 0 0 GCLC 2729 broad.mit.edu 37 6 53372315 53372315 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:53372315C>T uc003pbw.2 - 8 1531 c.1047G>A c.(1045-1047)acG>acA p.T349T GCLC_uc003pbv.1_Silent_p.T73T|GCLC_uc021zau.1_Silent_p.T311T NM_001498 NP_001489 P48506 GSH1_HUMAN Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA. 349 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) CTTTATCTATCGTCAAGTCGA 0.373000 163 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179599476 179599476 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:179599476C>T uc021vsy.1 - 47 11668 c.11443G>A c.(11443-11445)Gac>Aac p.D3815N TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D476N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4742 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGCCGACGTCATTCACTGCT 0.363000 97 8 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4917611 4917611 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:4917611C>T uc003snj.1 - 1 333 c.160G>A c.(160-162)Gag>Aag p.E54K RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc011jwd.1_Non-coding_Transcript NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Homo sapiens Ras association and DIL domains (RADIL), mRNA. 54 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GTGGAGAGCTCGGCGGGGTCA 0.647000 19 4 0 0 1 0 0 TMEM196 256130 broad.mit.edu 37 7 19765281 19765281 + Silent SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:19765281A>C uc011jyg.2 - 2 400 c.315T>G c.(313-315)ctT>ctG p.L105L TMEM196_uc003sur.3_Non-coding_Transcript NM_152774 NP_689987 Q5HYL7 TM196_HUMAN Homo sapiens transmembrane protein 196 (TMEM196), mRNA. 111 integral to membrane breast(1)|large_intestine(1)|lung(4) 6 ACATGGAGGCAAGGTGCAGTG 0.522000 71 9 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39085744 39085744 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:39085744C>T uc004abi.3 - 20 3670 c.3431G>A c.(3430-3432)gGa>gAa p.G1144E CNTNAP3_uc004abj.3_Missense_Mutation_p.G1063E|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_3'UTR NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA. 1144 Laminin G-like 4. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TAAAACCTTTCCCAATATGAG 0.408000 67 14 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34826651 34826651 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:34826651C>T uc003oju.4 + 13 2752 c.2518C>T c.(2518-2520)Cgc>Tgc p.R840C UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA. 840 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 GGCTCTGCTTCGCCTGAAGGA 0.537000 165 15 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809741 18809741 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:18809741C>T uc001bax.3 + 0 2318 c.2266C>T c.(2266-2268)Ccg>Tcg p.P756S KLHDC7A_uc009vpg.3_Intron NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA. 756 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TTTCCCGGCCCCGCAGGGCAC 0.627000 181 26 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147844743 147844743 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:147844743C>T uc003weu.2 + 16 3231 c.2715C>T c.(2713-2715)atC>atT p.I905I NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 905 Laminin G-like 3. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CGCAGCAGATCCGCAAGGCCC 0.567000 HNSCC(39;0.1) 102 5 0 0 1 0 0 GJB2 2706 broad.mit.edu 37 13 20763235 20763235 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:20763235G>A uc001umy.3 - 1 701 c.486C>T c.(484-486)tcC>tcT p.S162S GJB2_uc021rha.1_Silent_p.S162S NM_004004 NP_003995 P29033 CXB2_HUMAN Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), mRNA. 162 cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport ER-Golgi intermediate compartment|connexon complex|integral to membrane breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738) GCCGCTGCATGGAGAAGCCGT 0.552000 Keratitis, Ichthyosis and Deafness syndrome 61 4 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 76975898 76975898 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:76975898C>T uc002snr.3 - 3 2111 c.1696G>A c.(1696-1698)Ggc>Agc p.G566S LRRTM4_uc002snq.3_Missense_Mutation_p.G566S NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA. 566 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) TGGTCTCGGCCCAGCTCCAGG 0.607000 180 26 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56026252 56026252 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:56026252C>T uc021wzo.1 - 9 2228 c.2088G>A c.(2086-2088)agG>agA p.R696R ERC2_uc003dhr.1_Silent_p.R696R|ERC2_uc003dht.1_Silent_p.R179R NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 696 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CAGGGTTCATCCTGGAGTCAT 0.433000 102 8 0 0 1 0 0 WDR64 128025 broad.mit.edu 37 1 241907714 241907714 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:241907714G>A uc001hzg.2 + 11 1667 c.1460G>A c.(1459-1461)gGg>gAg p.G487E WDR64_uc021plh.1_Missense_Mutation_p.G281E|WDR64_uc021pli.1_Missense_Mutation_p.G207E NM_144625 NP_653226 B1ANS9 WDR64_HUMAN Homo sapiens WD repeat domain 64 (WDR64), mRNA. 487 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CTCGAGACTGGGCTCCAAGTA 0.403000 31 6 0 0 1 0 0 CCDC170 80129 broad.mit.edu 37 6 151936716 151936716 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:151936716G>A uc003qol.3 + 9 1938 c.1849G>A c.(1849-1851)Gag>Aag p.E617K NM_025059 NP_079335 Q8IYT3 CF097_HUMAN Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA. 617 TGAGGCTAAGGAGAATAAAGA 0.403000 77 6 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430875 37430875 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:37430875C>T uc021ppc.1 + 6 981 c.882C>T c.(880-882)ttC>ttT p.F294F ANKRD30A_uc001iza.1_Silent_p.F294F NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 350 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CTGGAAAGTTCGAACAGTCAG 0.443000 36 5 0 0 1 0 0 FMOD 2331 broad.mit.edu 37 1 203317043 203317043 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:203317043G>A uc001gzr.3 - 1 492 c.356C>T c.(355-357)tCc>tTc p.S119F NM_002023 NP_002014 Q06828 FMOD_HUMAN Homo sapiens fibromodulin (FMOD), mRNA. 119 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) TTCCTGGATGGAGGTGATCTG 0.542000 35 5 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52821064 52821064 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:52821064G>A uc003dfs.3 + 13 1867 c.1837G>A c.(1837-1839)Ggc>Agc p.G613S ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.G471S|ITIH1_uc021wzg.1_Missense_Mutation_p.G325S|ITIH1_uc021wzh.1_Missense_Mutation_p.G325S|ITIH1_uc003dft.3_Missense_Mutation_p.G214S NM_002215 NP_002206 P19827 ITIH1_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA. 613 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GAGCATCAGGGGCATGGCGGA 0.612000 127 16 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100677114 100677114 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:100677114C>T uc003uxp.1 + 2 2470 c.2417C>T c.(2416-2418)cCt>cTt p.P806L MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 806 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGGAAGTCCTTTATTAACA 0.483000 530 36 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12337995 12337995 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:12337995C>T uc001atv.3 + 18 4491 c.4350C>T c.(4348-4350)agC>agT p.S1450S VPS13D_uc001atw.3_Silent_p.S1450S|VPS13D_uc001atx.3_Silent_p.S638S NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 1450 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CTGAAGGAAGCCGGATGTTTT 0.483000 135 19 0 0 1 0 0 SLC5A12 159963 broad.mit.edu 37 11 26734223 26734223 + Missense_Mutation SNP G A A rs145373937 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:26734223G>A uc001mra.2 - 1 683 c.370C>T c.(370-372)Cgc>Tgc p.R124C SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Missense_Mutation_p.R124C NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA. 124 sodium ion transport apical plasma membrane|integral to membrane symporter activity p.R124C(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 GCAGCATAGCGAACTGGTTTG 0.398000 237 24 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175360500 175360500 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:175360500C>T uc001gkp.1 - 4 1512 c.1431G>A c.(1429-1431)ggG>ggA p.G477G TNR_uc009wwu.1_Silent_p.G477G NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 477 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.G477R(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TGTATTCCTCCCCAGGCTTTA 0.572000 44 8 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8665662 8665662 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:8665662G>A uc002wnb.3 + 9 949 c.946G>A c.(946-948)Gaa>Aaa p.E316K PLCB1_uc010zrb.1_Missense_Mutation_p.E215K|PLCB1_uc002wna.3_Missense_Mutation_p.E316K|PLCB1_uc002wnc.1_Missense_Mutation_p.E215K NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 316 PI-PLC X-box. CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 GGATTTGAATGAAGACATGTC 0.418000 170 17 0 0 1 0 0 GSTM2P1 442245 broad.mit.edu 37 6 111368494 111368494 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:111368494C>T uc003puq.3 - 0 264 c.129G>A c.(127-129)ctG>ctA p.L43L Homo sapiens glutathione S-transferase mu 2 (muscle) pseudogene 1 (GSTM2P1), non-coding RNA. CAATGCAGCCCAGGATGGCCT 0.527000 108 16 0 0 1 0 0 PCYOX1 51449 broad.mit.edu 37 2 70486642 70486642 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:70486642G>A uc002sgn.4 + 1 329 c.263G>A c.(262-264)gGa>gAa p.G88E PCYOX1_uc010fdo.3_Missense_Mutation_p.G11E|PCYOX1_uc010yqu.2_Missense_Mutation_p.G88E NM_016297 NP_057381 Q9UHG3 PCYOX_HUMAN Homo sapiens prenylcysteine oxidase 1 (PCYOX1), mRNA. 88 prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6) 15 TACGAGGCAGGAGGTTCTGTC 0.468000 404 16 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22636798 22636798 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:22636798C>T uc001wdi.2 + 1 283 c.251C>T c.(250-252)tCa>tTa p.S84L TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc021rpu.1_Non-coding_Transcript Homo sapiens mRNA for T cell receptor alpha variable 30, partial cds, clone: SEB 222. ATATCTGCTTCATTTAATGAA 0.468000 18 4 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110240799 110240799 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:110240799G>A uc001tpj.2 - 2 804 c.709C>T c.(709-711)Cga>Tga p.R237* TRPV4_uc001tpg.2_Nonsense_Mutation_p.R203*|TRPV4_uc021rdp.1_Nonsense_Mutation_p.R237*|TRPV4_uc001tph.2_Nonsense_Mutation_p.R237*|TRPV4_uc001tpi.2_Nonsense_Mutation_p.R237*|TRPV4_uc001tpk.2_Nonsense_Mutation_p.R237* NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA. 237 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 GCCCCACCTCGATAGTAGATG 0.607000 49 3 0 0 1 0 0 SLC2A12 154091 broad.mit.edu 37 6 134349785 134349785 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:134349785C>T uc003qem.1 - 1 1349 c.1178G>A c.(1177-1179)gGa>gAa p.G393E NM_145176 NP_660159 Q8TD20 GTR12_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA. 393 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) GTTTCCTGGTCCATAAATCAC 0.448000 116 12 0 0 1 0 0 CHODL 140578 broad.mit.edu 37 21 19628935 19628935 + Missense_Mutation SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:19628935T>G uc002ykv.3 + 1 580 c.189T>G c.(187-189)agT>agG p.S63R CHODL_uc002ykr.3_Missense_Mutation_p.S22R|CHODL_uc002yks.3_Missense_Mutation_p.S22R|CHODL_uc021whr.1_Missense_Mutation_p.S22R|CHODL_uc002ykt.3_Missense_Mutation_p.S22R|CHODL_uc002yku.3_Missense_Mutation_p.S22R|CHODL_uc021whs.1_Missense_Mutation_p.S44R NM_024944 NP_001191105 Q9H9P2 CHODL_HUMAN Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA. 63 C-type lectin. muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) CTTGTGAGAGTGAGGGAGGAG 0.498000 56 6 0 0 1 0 0 CREB3 10488 broad.mit.edu 37 9 35735337 35735337 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:35735337C>T uc003zxv.3 + 5 1030 c.577C>T c.(577-579)Cag>Tag p.Q193* TLN1_uc003zxt.2_5'Flank|TLN1_uc003zxu.4_5'Flank|CREB3_uc010mla.3_Nonsense_Mutation_p.Q112* NM_006368 NP_006359 O43889 CREB3_HUMAN Homo sapiens cAMP responsive element binding protein 3 (CREB3), mRNA. 217 chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation Golgi apparatus|cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nucleus CCR1 chemokine receptor binding|DNA binding|cAMP response element binding protein binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1) 9 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) TATGGAGCTTCAGAACAAAGT 0.433000 228 18 0 0 1 0 0 FAM181A 90050 broad.mit.edu 37 14 94394920 94394920 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:94394920G>A uc001ybz.2 + 2 800 c.475G>A c.(475-477)Gag>Aag p.E159K FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Missense_Mutation_p.E97K|FAM181A_uc021saz.1_Missense_Mutation_p.E97K|FAM181A_uc010aus.2_Missense_Mutation_p.E97K|FAM181A_uc001yca.2_Missense_Mutation_p.E97K NM_138344 NP_001194003 Q8N9Y4 F181A_HUMAN Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA. 159 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 GGGCTGCAAGGAGAAGGTGCT 0.642000 43 8 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51741366 51741366 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:51741366G>A uc010ufy.2 - 42 9154 c.8929C>T c.(8929-8931)Cta>Tta p.L2977L DMXL2_uc002abd.3_Silent_p.L1068L|DMXL2_uc002abf.3_Silent_p.L2976L|DMXL2_uc010bfa.3_Silent_p.L2340L|DMXL2_uc002abc.3_Non-coding_Transcript NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 2976 cell junction|synaptic vesicle membrane Rab GTPase binding p.L2976P(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) GAATGAATTAGGCCATGGCCT 0.413000 92 11 0 0 1 0 0 DHRS9 10170 broad.mit.edu 37 2 169952209 169952209 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:169952209C>T uc010zdc.2 + 4 1184 c.1072C>T c.(1072-1074)Cca>Tca p.P358S DHRS9_uc002uep.3_Missense_Mutation_p.P298S|DHRS9_uc002ueq.3_Missense_Mutation_p.P298S|DHRS9_uc010zdd.2_Missense_Mutation_p.P298S|DHRS9_uc010zde.2_Missense_Mutation_p.P298S NM_199204 NP_954674 Q9BPW9 DHRS9_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA. 298 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 GTCTCACATGCCAGCAGCTTT 0.463000 68 9 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110437383 110437383 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:110437383C>T uc003yne.3 + 23 2871 c.2767C>T c.(2767-2769)Cat>Tat p.H923Y NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 923 H -> R (in dbSNP:rs4735133). immune response cytosol|extracellular space|integral to membrane receptor activity p.K923I(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTCAAAAATTCATATTCAAAG 0.318000 HNSCC(38;0.096) 29 3 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16327214 16327214 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:16327214G>A uc003nbt.3 - 7 2299 c.1328C>T c.(1327-1329)cCa>cTa p.P443L ATXN1_uc010jpi.3_Missense_Mutation_p.P443L|ATXN1_uc010jpj.1_Intron NM_000332 NP_001121636 P54253 ATX1_HUMAN Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA. 443 RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CACCGGGAGTGGCTCTGAAGC 0.622000 244 22 0 0 1 0 0 STYK1 55359 broad.mit.edu 37 12 10774548 10774548 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:10774548G>A uc001qys.2 - 9 1512 c.991C>T c.(991-993)Cct>Tct p.P331S NM_018423 NP_060893 Q6J9G0 STYK1_HUMAN Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA. 331 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 CTGGTAGGAGGGACTTCAGGA 0.418000 HNSCC(73;0.22) 102 8 0 0 1 0 0 RASSF6 166824 broad.mit.edu 37 4 74442366 74442366 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:74442366G>A uc003hhd.1 - 8 1023 c.900C>T c.(898-900)ttC>ttT p.F300F RASSF6_uc003hhc.1_Silent_p.F268F|RASSF6_uc010iik.1_Silent_p.F234F|RASSF6_uc010iil.1_Silent_p.F256F NM_201431 NP_803876 Q6ZTQ3 RASF6_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA. 300 Ras-associating. apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TATCCATGAGGAAAATGCGAG 0.428000 158 9 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32211175 32211175 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:32211175C>T uc011alu.2 + 20 1845 c.1643C>T c.(1642-1644)tCc>tTc p.S548F DEPDC5_uc011als.2_Missense_Mutation_p.S548F|DEPDC5_uc003als.3_Missense_Mutation_p.S548F|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.S548F|DEPDC5_uc003alr.2_Missense_Mutation_p.S548F|DEPDC5_uc011alt.2_Missense_Mutation_p.S520F NM_001242896 NP_001229825 O75140 DEPD5_HUMAN Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA. 548 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 GTCAGCAGCTCCTTGGGATAC 0.542000 113 15 0 0 1 0 0 EPS8L3 79574 broad.mit.edu 37 1 110294354 110294354 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:110294354C>T uc001dyr.2 - 15 1710 c.1485G>A c.(1483-1485)cgG>cgA p.R495R EPS8L3_uc001dys.2_Silent_p.R465R|EPS8L3_uc001dyq.2_Silent_p.R496R|EPS8L3_uc009wfm.2_Silent_p.R432R|EPS8L3_uc009wfn.2_Silent_p.R440R NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA. 495 SH3. cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) TGTAGCCGCTCCGTCCCGCCT 0.627000 80 10 0 0 1 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45258223 45258223 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:45258223G>A uc003bfd.3 + 16 1957 c.1680G>A c.(1678-1680)ttG>ttA p.L560L PRR5-ARHGAP8_uc011aqi.2_Silent_p.L472L|PRR5-ARHGAP8_uc011aqj.2_Silent_p.L403L|PRR5-ARHGAP8_uc010gzv.3_3'UTR|PRR5-ARHGAP8_uc003bfj.3_Silent_p.L381L|PRR5-ARHGAP8_uc003bfk.3_Silent_p.L350L|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript NM_181335 NP_851852 Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA. breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 GGCTGAATTTGATCTGGCCAT 0.522000 120 9 0 0 1 0 0 GTF2E2 2961 broad.mit.edu 37 8 30492628 30492628 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:30492628C>T uc003xig.3 - 2 432 c.179G>A c.(178-180)gGa>gAa p.G60E NM_002095 NP_002086 P29084 T2EB_HUMAN Homo sapiens general transcription factor IIE, polypeptide 2, beta 34kDa (GTF2E2), mRNA. 60 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) GTTAAATGATCCATTGCTATG 0.323000 45 4 0 0 1 0 0 HLA-DPB2 3116 broad.mit.edu 37 6 33095812 33095812 + RNA SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:33095812G>A uc003ocw.1 + 2 c.582G>A Homo sapiens major histocompatibility complex, class II, DP beta 2 (pseudogene) (HLA-DPB2), non-coding RNA. CCCCCAGCAGGGAAACATCTA 0.572000 41 11 0 0 1 0 0 KIF14 9928 broad.mit.edu 37 1 200534574 200534574 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:200534574G>A uc010ppk.1 - 24 4325 c.3886_splice c.e24+1 p.L1296_splice KIF14_uc010ppj.1_Splice_Site_p.L805_splice NM_014875 NP_055690 Q15058 KIF14_HUMAN Homo sapiens kinesin family member 14 (KIF14), mRNA. 1296 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 ATTGCTTACAGTTATCTTGAC 0.338000 21 7 0 0 1 0 0 T 6862 broad.mit.edu 37 6 166571848 166571848 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:166571848G>A uc003qut.1 - 7 1552 c.1266C>T c.(1264-1266)ggC>ggT p.G422G T_uc003quu.1_Silent_p.G421G|T_uc003quv.1_Silent_p.G363G NM_003181 NP_003172 O15178 BRAC_HUMAN Homo sapiens T, brachyury homolog (mouse) (T), mRNA. 421 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CTATGAGGCGGCCTTGGGCTG 0.632000 Chordoma, Familial Clustering of 208 13 0 0 1 0 0 MRO 83876 broad.mit.edu 37 18 48327822 48327822 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:48327822G>A uc010dpa.3 - 4 673 c.524C>T c.(523-525)gCc>gTc p.A175V MRO_uc010xdn.2_Intron|MRO_uc002lew.4_Missense_Mutation_p.A161V|MRO_uc010dpb.3_Intron|MRO_uc010dpc.3_Intron|MRO_uc002lex.4_Missense_Mutation_p.A161V NM_001127176 NP_001120648 Q9BYG7 MSTRO_HUMAN Homo sapiens maestro (MRO), transcript variant 4, mRNA. 161 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) CCCGGCAAAGGCAGCCAATTG 0.463000 141 13 0 0 1 0 0 CYP2F1 1572 broad.mit.edu 37 19 41622410 41622410 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:41622410G>A uc002opu.1 + 2 278 c.222G>A c.(220-222)cgG>cgA p.R74R CYP2F1_uc021uuv.1_5'UTR|CYP2F1_uc010xvv.1_Silent_p.R74R|CYP2F1_uc002opv.1_Non-coding_Transcript NM_000774 NP_000765 P24903 CP2F1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA. 74 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 GACCCAGGCGGGTGGTGGTCC 0.597000 135 13 0 0 1 0 0 PBOV1 59351 broad.mit.edu 37 6 138539186 138539186 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:138539186G>A uc003qhv.3 - 0 442 c.347C>T c.(346-348)aCc>aTc p.T116I KIAA1244_uc003qhu.3_Intron NM_021635 NP_067648 Q9GZY1 PBOV1_HUMAN Homo sapiens prostate and breast cancer overexpressed 1 (PBOV1), mRNA. 116 cytoplasm|nucleus endometrium(1) 1 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674) CAGACCTAGGGTCTGAGTTAA 0.398000 67 7 0 0 1 0 0 MS4A3 932 broad.mit.edu 37 11 59828636 59828636 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:59828636G>A uc001nom.3 + 1 131 c.3G>A c.(1-3)atG>atA p.M1I MS4A3_uc001non.3_Missense_Mutation_p.M1I|MS4A3_uc001noo.3_Intron NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA. 1 endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_epithelial(135;0.245) CAACCCCAATGGCCTCCCACG 0.483000 55 6 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20569216 20569216 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:20569216G>A uc003gpr.1 + 27 3130 c.2926G>A c.(2926-2928)Gaa>Aaa p.E976K SLIT2_uc003gps.1_Missense_Mutation_p.E968K NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 976 EGF-like 2. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CCACTTAAAGGAAGGAGAAGA 0.433000 43 5 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142605689 142605689 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142605689G>A uc003wby.1 - 14 2445 c.2181C>T c.(2179-2181)taC>taT p.Y727Y NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA. 727 Involved in Ca(2+)-dependent inactivation (By similarity). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity p.V726I(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) ATCAAAAATGGTAGACCTCCT 0.537000 112 5 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215955512 215955512 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:215955512G>A uc001hku.1 - 53 10999 c.10612C>T c.(10612-10614)Cga>Tga p.R3538* NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3538 Fibronectin type-III 20. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATTCCATTTCGAAGAAGGATG 0.343000 HNSCC(13;0.011) 39 4 0 0 1 0 0 MAGEE1 57692 broad.mit.edu 37 X 75650188 75650188 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:75650188G>A uc004ecm.2 + 0 2143 c.1865G>A c.(1864-1866)gGg>gAg p.G622E NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA. 622 MAGE 1. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 TCCATTTTTGGGAACCCAAAG 0.488000 23 5 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236882221 236882221 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:236882221G>A uc001hyf.2 + 2 473 c.269G>A c.(268-270)gGa>gAa p.G90E ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.G90E NM_001103 NP_001094 P35609 ACTN2_HUMAN Homo sapiens actinin, alpha 2 (ACTN2), mRNA. 90 Actin-binding.|CH 1. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CCTGACCGGGGAAAAATGCGG 0.473000 61 4 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475961 140475961 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140475961C>T uc003lil.3 + 0 1725 c.1587C>T c.(1585-1587)ttC>ttT p.F529F PCDHB2_uc003lim.1_Silent_p.F190F NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN Homo sapiens protocadherin beta 2 (PCDHB2), mRNA. 529 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCAGGCGTTCGAGTTCCGCG 0.701000 97 11 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72955945 72955945 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:72955945G>A uc001sxa.3 + 8 1684 c.1654_splice c.e8-1 p.D552_splice NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 552 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 ATTCTTGTAGGATTATTTAAC 0.264000 32 3 0 0 1 0 0 ZNF704 619279 broad.mit.edu 37 8 81577238 81577238 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:81577238C>T uc003yby.2 - 5 971 c.739G>A c.(739-741)Gca>Aca p.A247T NM_001033723 NP_001028895 Q6ZNC4 ZN704_HUMAN Homo sapiens zinc finger protein 704 (ZNF704), mRNA. 247 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) AGCCCGTCTGCCACTGAGTCT 0.522000 72 6 0 0 1 0 0 OR52B2 255725 broad.mit.edu 37 11 6190599 6190599 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:6190599G>A uc010qzy.2 - 0 958 c.958C>T c.(958-960)Cct>Tct p.P320S NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA. 320 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGCCCAGAGGGGAGGTACAG 0.473000 62 4 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131688698 131688698 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:131688698G>A uc002tsa.1 + 2 687 c.168G>A c.(166-168)agG>agA p.R56R ARHGEF4_uc010fmw.1_Silent_p.R702R|ARHGEF4_uc002tsb.1_Silent_p.R56R|ARHGEF4_uc010fmx.1_Silent_p.R56R|ARHGEF4_uc002trz.1_Silent_p.R702R NM_015320 NP_056135 Q9NR80 ARHG4_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA. 56 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane Rac guanyl-nucleotide exchange factor activity|protein domain specific binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) CACAGCCTAGGGGCATCCCTC 0.607000 30 3 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55571371 55571371 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:55571371G>A uc021pqv.1 - 32 4410 c.4382C>T c.(4381-4383)cCa>cTa p.P1461L PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Missense_Mutation_p.P1459L NM_001142770 NP_001136242 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant J, mRNA. 0 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) CAGACTCCATGGATAATTCCT 0.328000 HNSCC(58;0.16) 24 3 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158262068 158262068 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:158262068G>A uc001fru.3 + 2 815 c.523G>A c.(523-525)Gaa>Aaa p.E175K CD1C_uc021pbl.1_5'Flank NM_001765 NP_001756 P29017 CD1C_HUMAN Homo sapiens CD1c molecule (CD1C), mRNA. 175 T cell activation involved in immune response|antigen processing and presentation endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) AGGCGTCACAGAAACAGTGTA 0.463000 281 25 0 0 1 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117973868 117973868 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:117973868C>T uc021qrd.1 + 3 501 c.210C>T c.(208-210)ttC>ttT p.F70F TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Silent_p.F70F|TMPRSS4_uc010rxo.2_Silent_p.F68F|TMPRSS4_uc010rxs.2_Silent_p.F30F|TMPRSS4_uc010rxq.2_5'UTR|TMPRSS4_uc010rxr.2_Silent_p.F45F|TMPRSS4_uc010rxt.2_Silent_p.F45F NM_019894 NP_063947 Q9NRS4 TMPS4_HUMAN Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA. 70 LDL-receptor class A. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) CTCTCCACTTCATCCCGAGGA 0.592000 196 14 0 0 1 0 0 LUZP4 51213 broad.mit.edu 37 X 114540849 114540849 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:114540849G>A uc004eqa.3 + 3 456 c.422G>A c.(421-423)gGa>gAa p.G141E LUZP4_uc004eqb.3_Missense_Mutation_p.G59E NM_016383 NP_057467 Q9P127 LUZP4_HUMAN Homo sapiens leucine zipper protein 4 (LUZP4), mRNA. 141 nucleus endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 14 CAATCAGAAGGAAATCCGGAC 0.458000 29 7 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38962605 38962605 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:38962605G>A uc021wvy.1 - 5 1053 c.854C>T c.(853-855)tCg>tTg p.S285L NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 285 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ACAGTCCCTCGAGATGCATTT 0.438000 218 16 0 0 1 0 0 KIF13B 23303 broad.mit.edu 37 8 28984712 28984712 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:28984712C>T uc003xhh.4 - 24 3208 c.3149G>A c.(3148-3150)tGt>tAt p.C1050Y AF086219_uc003xhi.1_Intron NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN Homo sapiens kinesin family member 13B (KIF13B), mRNA. 1050 T cell activation|microtubule-based movement|protein targeting|signal transduction cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) AGACAGTATACATTCTTCCAT 0.458000 93 10 0 0 1 0 0 KHNYN 23351 broad.mit.edu 37 14 24905653 24905653 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:24905653G>A uc010tpc.2 + 6 1884 c.1868G>A c.(1867-1869)cGa>cAa p.R623Q KHNYN_uc001wph.4_Missense_Mutation_p.R582Q|KHNYN_uc010alw.3_Missense_Mutation_p.R582Q NM_015299 NP_056114 O15037 KHNYN_HUMAN Homo sapiens KH and NYN domain containing (KHNYN), mRNA. 582 kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3) 24 CCACTGGGGCGAAACGGCCCC 0.567000 OREG0022628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 69 6 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87795236 87795236 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:87795236G>A uc003ujn.3 + 23 2381 c.2166G>A c.(2164-2166)aaG>aaA p.K722K ADAM22_uc003ujk.2_Silent_p.K722K|ADAM22_uc003ujl.2_Silent_p.K722K|ADAM22_uc003ujm.3_Silent_p.K722K|ADAM22_uc003ujo.3_Silent_p.K722K|ADAM22_uc003ujp.1_Silent_p.K774K NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA. 722 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) ATGATGCAAAGACTGGTATCA 0.383000 53 11 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100199320 100199320 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:100199320G>A uc002taf.3 - 15 2952 c.2808C>T c.(2806-2808)gcC>gcT p.A936A AFF3_uc002tag.3_Silent_p.A911A|AFF3_uc010fiq.1_Silent_p.A911A|AFF3_uc010yvr.1_Silent_p.A1064A|AFF3_uc002tah.1_Silent_p.A936A NM_001025108 NP_001020279 P51826 AFF3_HUMAN Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA. 911 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TGCTGGAAGAGGCTGAAGTAA 0.498000 84 7 0 0 1 0 0 CER1 9350 broad.mit.edu 37 9 14722444 14722444 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:14722444C>T uc003zlj.3 - 0 272 c.227G>A c.(226-228)aGa>aAa p.R76K NM_005454 NP_005445 O95813 CER1_HUMAN Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA. 76 BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) CATCTTCTCTCTCTGCCTCTG 0.567000 93 9 0 0 1 0 0 PECAM1 5175 broad.mit.edu 37 17 62399248 62399248 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:62399248C>T uc002jef.2 - 1 c.1982G>A P16284 PECA1_HUMAN Homo sapiens platelet/endothelial cell adhesion molecule (PECAM1), mRNA. cell adhesion|cell recognition|diapedesis|phagocytosis|platelet activation|platelet degranulation|signal transduction cell junction|extracellular space|integral to membrane|platelet alpha granule membrane protein binding BRCA - Breast invasive adenocarcinoma(8;1.28e-12) TAAGGAACTCCCTGGACACAG 0.537000 50 6 0 0 1 0 0 SERPINA5 5104 broad.mit.edu 37 14 95057221 95057221 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:95057221C>T uc001ydm.2 + 4 1236 c.1026C>T c.(1024-1026)atC>atT p.I342I SERPINA3_uc001ydo.4_5'Flank NM_000624 NP_000615 P05154 IPSP_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA. 342 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) ACTCAAATATCCAGGTGTCTG 0.488000 89 15 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22284557 22284557 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:22284557G>A uc001mqi.2 + 16 2183 c.1866G>A c.(1864-1866)caG>caA p.Q622Q ANO5_uc001mqj.2_Silent_p.Q621Q NM_213599 NP_998764 Q75V66 ANO5_HUMAN Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA. 622 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCGGGAAACAGATTTTTGGAA 0.358000 58 4 0 0 1 0 0 ZNRF3 84133 broad.mit.edu 37 22 29440777 29440777 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:29440777G>A uc003aeg.3 + 4 643 c.643G>A c.(643-645)Gaa>Aaa p.E215K ZNRF3_uc021wnq.1_Missense_Mutation_p.E115K NM_001206998 NP_001193927 Q9ULT6 ZNRF3_HUMAN Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA. 215 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 GCAACCCACTGAATACTTTGA 0.512000 86 21 0 0 1 0 0 MARVELD2 153562 broad.mit.edu 37 5 68715330 68715330 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:68715330G>A uc003jwq.3 + 1 192 c.118G>A c.(118-120)Gca>Aca p.A40T MARVELD2_uc010ixf.3_Missense_Mutation_p.A40T|MARVELD2_uc003jws.1_Non-coding_Transcript NM_001038603 NP_001033692 Q8N4S9 MALD2_HUMAN Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA. 40 sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) CAGTGAGCGGGCAGTGAGCGC 0.562000 88 9 0 0 1 0 0 METTL13 51603 broad.mit.edu 37 1 171761353 171761353 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:171761353C>T uc001ghz.3 + 5 2018 c.1671C>T c.(1669-1671)gcC>gcT p.A557A METTL13_uc001gia.3_Silent_p.A471A|METTL13_uc001gib.3_Silent_p.A401A|METTL13_uc010pml.2_Silent_p.A556A|METTL13_uc001gic.1_5'Flank NM_015935 NP_055770 Q8N6R0 MTL13_HUMAN Homo sapiens methyltransferase like 13 (METTL13), transcript variant 1, mRNA. 557 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 ACTATATCGCCAGCTTGGCAG 0.547000 107 14 0 0 1 0 0 PLVAP 83483 broad.mit.edu 37 19 17476507 17476507 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:17476507T>C uc002ngk.1 - 2 807 c.767A>G c.(766-768)aAc>aGc p.N256S NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA. 256 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ATGGTAGAGGTTGTAACCCAG 0.612000 143 14 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127645737 127645737 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:127645737C>T uc003kuu.3 - 39 5577 c.5138G>A c.(5137-5139)gGa>gAa p.G1713E NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 1713 EGF-like 28; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGTGTAATTTCCCAGGGTGTT 0.433000 88 4 0 0 1 0 0 TMEM109 79073 broad.mit.edu 37 11 60689406 60689406 + Silent SNP C T T rs143462464 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:60689406C>T uc001nqg.3 + 3 879 c.501C>T c.(499-501)atC>atT p.I167I TMEM132A_uc001nqi.3_5'Flank|TMEM132A_uc001nqj.3_5'Flank NM_024092 NP_076997 Q9BVC6 TM109_HUMAN Homo sapiens transmembrane protein 109 (TMEM109), mRNA. 167 integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1) 8 AGCTTGTCATCTTCCTGGCCG 0.662000 125 15 0 0 1 0 0 OR52H1 390067 broad.mit.edu 37 11 5566459 5566459 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:5566459C>T uc010qzh.2 - 0 295 c.295G>A c.(295-297)Gaa>Aaa p.E99K HBG1_uc001mak.1_Intron NM_001005289 NP_001005289 Q8NGJ2 O52H1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA. 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E99K(2) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AATGTGATTTCGCGAGCCCCT 0.468000 67 9 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924697 188924697 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:188924697C>T uc003izh.1 + 3 1144 c.736C>T c.(736-738)Cgg>Tgg p.R246W ZFP42_uc003izi.1_Missense_Mutation_p.R246W|ZFP42_uc021xvm.1_Missense_Mutation_p.R246W NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA. 246 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GAAGCCGTTTCGGTGCACTTT 0.522000 35 6 0 0 1 0 0 ATF6B 1388 broad.mit.edu 37 6 32084285 32084286 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:32084285_32084286GG>AA uc003nzn.3 - 16 1886_1887 c.1853_1854CC>TT c.(1852-1854)tcc>tTT p.S618F TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Missense_Mutation_p.S191F|ATF6B_uc003nzo.3_Missense_Mutation_p.S615F NM_004381 NP_004372 Q99941 ATF6B_HUMAN Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA. 618 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 GCATCACCAGGGACATCTTGGG 0.624000 76 8 0 0 1 0 0 ANKRD16 54522 broad.mit.edu 37 10 5929972 5929972 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:5929972C>T uc010qat.2 - 1 916 c.373G>A c.(373-375)Gaa>Aaa p.E125K ANKRD16_uc009xie.3_Missense_Mutation_p.E125K|ANKRD16_uc009xif.3_Missense_Mutation_p.E125K|ANKRD16_uc001iiq.3_Missense_Mutation_p.E125K|FBXO18_uc001iir.3_5'Flank|FBXO18_uc001iis.3_5'Flank|FBXO18_uc009xig.3_5'Flank NM_019046 NP_061919 Q6P6B7 ANR16_HUMAN Homo sapiens ankyrin repeat domain 16 (ANKRD16), transcript variant 1, mRNA. 125 breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2) 12 GCGCCATGTTCCACCAGCTCC 0.557000 142 17 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141473590 141473590 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:141473590G>A uc002tvj.1 - 36 6947 c.5975C>T c.(5974-5976)tCc>tTc p.S1992F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 1992 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGGCCTTGGGAAATAATTAC 0.353000 TSP Lung(27;0.18) 47 6 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82578863 82578863 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:82578863C>T uc003uhx.2 - 5 11330 c.11041G>A c.(11041-11043)Gac>Aac p.D3681N PCLO_uc003uhv.2_Missense_Mutation_p.D3681N|PCLO_uc010lec.3_Missense_Mutation_p.D646N NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3612 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.D3681H(3)|p.D3612H(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTTGGGGTCAGACATAGAA 0.483000 161 13 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183713986 183713986 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:183713986A>T uc003ivd.1 + 24 6236 c.6161A>T c.(6160-6162)gAg>gTg p.E2054V NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 2054 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GGCAAAGTTGAGCAGTTTGGA 0.403000 63 4 0 0 1 0 0 INTU 27152 broad.mit.edu 37 4 128577864 128577864 + Silent SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:128577864T>G uc003ifk.2 + 2 859 c.756T>G c.(754-756)ccT>ccG p.P252P INTU_uc011cgq.2_Non-coding_Transcript NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA. 252 PDZ. breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 CTTGCATTCCTGGACCTATGC 0.328000 96 6 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226923450 226923450 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:226923450G>A uc010pvo.2 - 1 2050 c.1710C>T c.(1708-1710)atC>atT p.I570I ITPKB_uc001hqh.3_Silent_p.I570I NM_002221 NP_002212 P27987 IP3KB_HUMAN Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA. 570 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity p.I96I(1)|p.I570I(1) central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) TGTCTGTAATGATGACAGCAG 0.612000 37 9 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120438559 120438559 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:120438559C>T uc001eij.3 - 0 589 c.401G>A c.(400-402)cGa>cAa p.R134Q NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 134 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) AAATACACCTCGGAGACCCCC 0.458000 106 8 0 0 1 0 0 CRISP2 7180 broad.mit.edu 37 6 49660530 49660530 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:49660530C>T uc003ozn.2 - 9 924 c.688G>A c.(688-690)Gaa>Aaa p.E230K CRISP2_uc003ozr.2_Missense_Mutation_p.E230K|CRISP2_uc003ozo.2_Missense_Mutation_p.E230K|CRISP2_uc003ozm.2_Missense_Mutation_p.E265K|CRISP2_uc003ozp.2_Missense_Mutation_p.E230K|CRISP2_uc003ozq.2_Missense_Mutation_p.E230K|CRISP2_uc003ozl.2_Missense_Mutation_p.E230K NM_001142417 NP_003287 P16562 CRIS2_HUMAN Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA. 230 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TTGCACTTTTCCTTGAGTAAC 0.393000 51 4 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15714669 15714669 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:15714669T>A uc001ioc.1 - 6 756 c.756A>T c.(754-756)gaA>gaT p.E252D ITGA8_uc010qcb.1_Missense_Mutation_p.E252D NM_003638 NP_003629 P53708 ITA8_HUMAN Homo sapiens integrin, alpha 8 (ITGA8), mRNA. 252 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CCGTCTGCTTTTCTCCTGCCA 0.403000 62 6 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43447216 43447216 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:43447216G>A uc003tid.1 + 7 1292 c.687G>A c.(685-687)ctG>ctA p.L229L HECW1_uc011kbi.1_Silent_p.L229L|HECW1_uc003tie.1_Silent_p.L261L NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 229 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 ACCCTTATCTGAAGATTTCCA 0.443000 48 6 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771361 143771361 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:143771361C>T uc011ktx.2 + 0 49 c.49C>T c.(49-51)Ccc>Tcc p.P17S NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) ACTGGGATTTCCCATTGGCCC 0.488000 111 11 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200977979 200977979 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:200977979C>T uc001gvs.2 - 2 682 c.365G>A c.(364-366)gGg>gAg p.G122E KIF21B_uc009wzl.2_Missense_Mutation_p.G122E|KIF21B_uc001gvr.2_Missense_Mutation_p.G122E|KIF21B_uc010ppn.2_Missense_Mutation_p.G122E NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 122 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GGCAATGCCCCCAAAGAGGTG 0.642000 180 7 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14778729 14778729 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:14778729C>T uc001rcd.3 - 20 2507 c.2370G>A c.(2368-2370)agG>agA p.R790R NM_004963 NP_004954 P25092 GUC2C_HUMAN Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA. 790 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CAGCCCTGTCCCTCTCTGCCT 0.453000 114 14 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28843760 28843760 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:28843760T>C uc002rmb.2 + 48 3486 c.3442T>C c.(3442-3444)Ttc>Ctc p.F1148L PLB1_uc010ezj.2_Missense_Mutation_p.F1137L|PLB1_uc002rme.2_Missense_Mutation_p.F113L NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 1148 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TCTGAAGAAGTTCAACCCTTA 0.557000 209 30 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140720289 140720289 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140720289C>T uc003ljk.2 + 0 1936 c.1751C>T c.(1750-1752)cCc>cTc p.P584L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.P584L NM_018915 NP_061738 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA. 585 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCGCAGAGCCCGGCTACCTG 0.662000 216 18 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48733226 48733226 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:48733226G>A uc002isl.3 + 1 159 c.79G>A c.(79-81)Gac>Aac p.D27N ABCC3_uc002isk.4_Missense_Mutation_p.D27N NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 27 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) AGAAAACCCGGACCTCACTCC 0.592000 86 9 0 0 1 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123182191 123182191 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:123182191G>A uc004bkf.3 - 26 4233 c.4052C>T c.(4051-4053)cCt>cTt p.P1351L CDK5RAP2_uc010mvi.3_Missense_Mutation_p.P360L|CDK5RAP2_uc004bke.3_Missense_Mutation_p.P636L|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.P1351L|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.P616L|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.P616L|CDK5RAP2_uc011lya.2_Missense_Mutation_p.P616L|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.P1121L|CDK5RAP2_uc004bki.3_Missense_Mutation_p.P1118L NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA. 1351 G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 TGAAGGCTCAGGAGATTCAGG 0.423000 82 20 0 0 1 0 0 AHSG 197 broad.mit.edu 37 3 186338483 186338483 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:186338483C>T uc003fqk.4 + 6 949 c.868C>T c.(868-870)Cca>Tca p.P290S NM_001622 NP_001613 P02765 FETUA_HUMAN Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA. 290 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) TGGACTCCCTCCAGCTGGCTC 0.637000 257 25 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158914729 158914729 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:158914729C>T uc003qrf.3 + 9 3113 c.1756C>T c.(1756-1758)Cct>Tct p.P586S TULP4_uc003qrg.3_Missense_Mutation_p.P586S NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA. 586 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GAGAGAGTTTCCTTTTGAAGA 0.667000 94 7 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 91034584 91034584 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:91034584C>T uc002bpl.1 + 33 4369 c.4268C>T c.(4267-4269)gCc>gTc p.A1423V IQGAP1_uc010uqg.1_Missense_Mutation_p.A44V NM_003870 NP_003861 P46940 IQGA1_HUMAN Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA. 1423 C2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CATCAGAGAGCCATGCAGAGA 0.403000 31 5 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23863396 23863396 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:23863396C>T uc001wjv.3 - 20 2637 c.2566G>A c.(2566-2568)Gaa>Aaa p.E856K NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 856 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCGAACTCTTCCTTCATGGTG 0.562000 152 9 0 0 1 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128880613 128880613 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:128880613C>T uc004eut.1 + 5 690 c.446C>T c.(445-447)cCt>cTt p.P149L XPNPEP2_uc011mum.2_Missense_Mutation_p.P149L NM_003399 NP_003390 O43895 XPP2_HUMAN Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA. 149 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 ACCGAGATTCCTGCTGGAGGG 0.537000 121 29 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 39966937 39966937 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:39966937C>T uc003ayc.3 + 0 180 c.180C>T c.(178-180)ttC>ttT p.F60F CACNA1I_uc003ayd.3_Silent_p.F60F NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 60 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TTGCCTTCTTCTGCCTGCGAC 0.657000 226 42 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38886289 38886289 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:38886289C>T uc003jln.2 + 6 1390 c.988C>T c.(988-990)Cga>Tga p.R330* OSMR_uc003jlm.2_Nonsense_Mutation_p.R330* NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 330 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) CCTGACTCATCGAGGTGAGAC 0.408000 72 4 0 0 1 0 0 TMEM79 84283 broad.mit.edu 37 1 156261256 156261256 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:156261256C>T uc010phi.2 + 3 1248 c.1052C>T c.(1051-1053)tCg>tTg p.S351L TMEM79_uc001fod.3_Missense_Mutation_p.S192L|TMEM79_uc009wrw.3_Missense_Mutation_p.S351L|C1orf85_uc001fof.4_Intron NM_032323 NP_115699 Q9BSE2 TMM79_HUMAN Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA. 351 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21 Hepatocellular(266;0.158) CCACTGCTGTCGATGCTGATG 0.627000 218 25 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19475128 19475128 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:19475128G>A uc002dgc.4 + 7 2016 c.1267G>A c.(1267-1269)Gaa>Aaa p.E423K TMC5_uc010vaq.2_Missense_Mutation_p.E423K|TMC5_uc002dgb.4_Missense_Mutation_p.E423K|TMC5_uc010var.2_Missense_Mutation_p.E423K|TMC5_uc002dgd.1_Missense_Mutation_p.E177K|TMC5_uc002dge.4_Missense_Mutation_p.E177K|TMC5_uc002dgf.4_Missense_Mutation_p.E106K|TMC5_uc002dgg.4_Missense_Mutation_p.E64K NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 423 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CAGCCTGTCGGAAATTCTGAA 0.478000 71 5 0 0 1 0 0 TOR2A 27433 broad.mit.edu 37 9 130494319 130494319 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:130494319G>A uc004brs.4 - 4 1039 c.960C>T c.(958-960)ttC>ttT p.F320F TOR2A_uc022bnq.1_Silent_p.F158F|TOR2A_uc004bru.4_Silent_p.F158F|TOR2A_uc004brv.4_3'UTR|TOR2A_uc011maj.2_3'UTR|TOR2A_uc004brt.4_3'UTR|TOR2A_uc004brw.4_3'UTR NM_001085347 NP_001078816 Q5JU69 TOR2A_HUMAN Homo sapiens torsin family 2, member A (TOR2A), transcript variant 1, mRNA. 320 chaperone mediated protein folding requiring cofactor endoplasmic reticulum|extracellular region ATP binding|nucleoside-triphosphatase activity NS(1)|endometrium(2) 3 AGAGTCAGAGGAAGAAGGCGA 0.607000 58 7 0 0 1 0 0 UGT1A1 54658 broad.mit.edu 37 2 234526407 234526407 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:234526407G>A uc002vup.3 + 0 117 c.54G>A c.(52-54)ctG>ctA p.L18L UGT1A1_uc010zmv.1_Silent_p.L18L NM_019076 NP_061949 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA. 17 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CTCTGCTGCTGACCTGTGGCT 0.577000 84 14 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47181798 47181798 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:47181798G>A uc001rpi.2 - 4 626 c.227C>T c.(226-228)tCc>tTc p.S76F SLC38A4_uc001rpj.2_Missense_Mutation_p.S76F|SLC38A4_uc009zkl.2_Missense_Mutation_p.S76F NM_018018 NP_060488 Q969I6 S38A4_HUMAN Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA. 76 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) CATTCCAAAGGAAGTGGTTCC 0.433000 33 3 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201046067 201046067 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:201046067G>A uc001gvv.3 - 11 2035 c.1808C>T c.(1807-1809)gCc>gTc p.A603V NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 603 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) gctgatgagggCTTGGGGAAA 0.542000 146 8 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54735141 54735141 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:54735141G>A uc003pck.3 + 1 213 c.97G>A c.(97-99)Gat>Aat p.D33N NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 33 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AGTAGCCATTGATATTCTGAT 0.378000 114 12 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56246452 56246452 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:56246452C>T uc002lhj.4 - 3 1770 c.1556G>A c.(1555-1557)aGa>aAa p.R519K NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 519 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TCCCCCCACTCTCTTGTCAGC 0.517000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 234 18 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57731246 57731246 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:57731246T>C uc010bfw.3 + 2 1242 c.1049T>C c.(1048-1050)aTt>aCt p.I350T CGNL1_uc002aeg.3_Missense_Mutation_p.I350T NM_001252335 NP_001239264 Q0VF96 CGNL1_HUMAN Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA. 350 Head. myosin complex|tight junction motor activity p.S349S(2) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) ACAGGATCAATTCCTGGTGTG 0.438000 43 8 0 0 1 0 0 PLBD1 79887 broad.mit.edu 37 12 14689560 14689560 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:14689560C>T uc001rcc.1 - 4 804 c.643G>A c.(643-645)Ggc>Agc p.G215S NM_024829 NP_079105 Q6P4A8 PLBL1_HUMAN Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA. 215 lipid catabolic process extracellular region hydrolase activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 TTTAGGCTGCCGTTTTTTGTG 0.448000 92 11 0 0 1 0 0 VAX1 11023 broad.mit.edu 37 10 118891771 118891771 + Missense_Mutation SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:118891771A>C uc001ldb.1 - 3 755 c.510T>G c.(508-510)aaT>aaG p.N170K NM_199131 NP_954582 Q5SQQ9 VAX1_HUMAN Homo sapiens ventral anterior homeobox 1 (VAX1), transcript variant 2, mRNA. 0 nucleus sequence-specific DNA binding endometrium(1)|large_intestine(1)|lung(8)|ovary(2) 12 all cancers(201;0.0108) GAGACTCATCATTTGCTGGCT 0.473000 60 10 0 0 1 0 0 FAM5C 339479 broad.mit.edu 37 1 190250839 190250839 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:190250839C>T uc001gse.1 - 2 510 c.278G>A c.(277-279)aGa>aAa p.R93K FAM5C_uc010pot.1_Intron NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 93 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GAAATTTCTTCTCTCAACTGC 0.398000 30 5 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57351798 57351798 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:57351798G>A uc001cyo.2 + 6 1186 c.1054G>A c.(1054-1056)Gaa>Aaa p.E352K NM_000562 NP_000553 P07357 CO8A_HUMAN Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA. 352 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 TGGCATTTATGAATATATCCT 0.413000 77 6 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49958711 49958711 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:49958711G>A uc004dow.1 - 4 777 c.653C>T c.(652-654)tCc>tTc p.S218F AKAP4_uc004dou.1_Missense_Mutation_p.S209F|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.S40F NM_003886 NP_647450 Q5JQC9 AKAP4_HUMAN Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA. 218 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) GACGTAGAAGGAAAGGTCATC 0.438000 64 11 0 0 1 0 0 IL18R1 8809 broad.mit.edu 37 2 103013022 103013022 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:103013022G>A uc002tbw.4 + 10 1452 c.1302G>A c.(1300-1302)gaG>gaA p.E434E IL18R1_uc010ywd.2_Silent_p.E278E|IL18R1_uc010fiy.3_Silent_p.E434E|IL18R1_uc010ywc.2_Silent_p.E433E NM_003855 NP_003846 Q13478 IL18R_HUMAN Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA. 434 TIR. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 CACTGATAGAGAAAAGCCGAA 0.358000 39 8 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72343480 72343480 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:72343480C>T uc002llw.2 + 0 558 c.505C>T c.(505-507)Ccc>Tcc p.P169S ZNF407_uc010xfc.2_Missense_Mutation_p.P169S|ZNF407_uc010dqu.2_Missense_Mutation_p.P169S|ZNF407_uc002llu.2_Missense_Mutation_p.P168S NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA. 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) ATCTCCTTTCCCCCCGAAAGA 0.393000 84 9 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17542924 17542924 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:17542924C>T uc001mnf.3 - 12 1163 c.1054G>A c.(1054-1056)Gaa>Aaa p.E352K USH1C_uc001mne.3_Missense_Mutation_p.E352K|USH1C_uc009yhb.3_Missense_Mutation_p.E333K|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.E316K NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. 352 G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 CTCTCATTTTCCTCTGCTGCC 0.493000 218 14 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38770288 38770289 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:38770288_38770289GG>AA uc003ciq.3 - 14 2384_2385 c.2384_2385CC>TT c.(2383-2385)gcc>gTT p.A795V NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 795 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AGACAATGATGGCCAGGATGAT 0.525000 105 10 0 0 1 0 0 FAM160A2 84067 broad.mit.edu 37 11 6245703 6245703 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:6245703G>A uc001mck.4 - 1 403 c.44C>T c.(43-45)cCt>cTt p.P15L FAM160A2_uc001mcl.4_Missense_Mutation_p.P15L|FAM160A2_uc001mcm.2_Missense_Mutation_p.P15L NM_032127 NP_115503 Q8N612 F16A2_HUMAN Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA. 15 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACGGTGCCCAGGGCCCCGGGA 0.597000 77 9 0 0 1 0 0 FBXO32 114907 broad.mit.edu 37 8 124553245 124553245 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:124553245G>A uc003yqr.3 - 0 249 c.10C>T c.(10-12)Ctc>Ttc p.L4F FBXO32_uc010mdk.3_Missense_Mutation_p.L4F NM_058229 NP_680482 Q969P5 FBX32_HUMAN Homo sapiens F-box protein 32 (FBXO32), transcript variant 1, mRNA. 4 autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1) 21 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TCCTGCCCGAGGAATGGCATG 0.701000 43 7 0 0 1 0 0 AK057473 0 broad.mit.edu 37 17 20805531 20805531 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:20805531G>A uc002gyg.1 + 4 c.715_splice c.e4-1 AK057473_uc002gyh.1_Splice_Site Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210. TGCCACCCAGGAAGTCTAATG 0.493000 207 6 0 0 1 0 0 PAPLN 89932 broad.mit.edu 37 14 73719404 73719404 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:73719404C>T uc010ttx.2 + 9 1178 c.1015C>T c.(1015-1017)Ccc>Tcc p.P339S PAPLN_uc001xnw.4_Missense_Mutation_p.P312S|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.P339S NM_173462 NP_775733 O95428 PPN_HUMAN Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA. 339 TSP type-1 2. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) TGAGGCCTACCCCGACCACAT 0.657000 168 9 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20482531 20482531 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:20482531G>A uc010bwe.3 + 5 972 c.733G>A c.(733-735)Gat>Aat p.D245N ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.D166N|ACSM2A_uc002dhf.4_Missense_Mutation_p.D245N|ACSM2A_uc002dhg.4_Missense_Mutation_p.D245N|ACSM2A_uc010vay.2_Missense_Mutation_p.D166N NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA. 245 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GGCCAAGATGGATGCTGGGTA 0.473000 54 9 0 0 1 0 0 TRAM1L1 133022 broad.mit.edu 37 4 118005809 118005809 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:118005809C>T uc003ibv.4 - 0 928 c.741G>A c.(739-741)caG>caA p.Q247Q NM_152402 NP_689615 Q8N609 TR1L1_HUMAN Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA. 247 TLC. protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 ATATGCCTTTCTGGTACTTTT 0.408000 59 4 0 0 1 0 0 GJC1 10052 broad.mit.edu 37 17 42882774 42882774 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:42882774G>A uc002ihj.3 - 1 923 c.412C>T c.(412-414)Cct>Tct p.P138S GJC1_uc002ihk.3_Missense_Mutation_p.P138S|GJC1_uc002ihl.3_Missense_Mutation_p.P138S|GJC1_uc021tyf.1_Missense_Mutation_p.P138S NM_005497 NP_005488 P36383 CXG1_HUMAN Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA. 138 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) TACATCATAGGATCCTCTTCG 0.507000 126 13 0 0 1 0 0 ZNF684 127396 broad.mit.edu 37 1 41006293 41006293 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:41006293C>T uc001cft.2 + 2 302 c.51C>T c.(49-51)ttC>ttT p.F17F NM_152373 NP_689586 Q5T5D7 ZN684_HUMAN Homo sapiens zinc finger protein 684 (ZNF684), mRNA. 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) CTGTGGATTTCACTGCAGAGG 0.443000 140 12 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5465073 5465073 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:5465073C>T uc003jdm.4 + 12 5848 c.5626C>T c.(5626-5628)Cct>Tct p.P1876S NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN Homo sapiens KIAA0947 (KIAA0947), mRNA. 1876 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AGGGAACCTCCCTCCAGCTGA 0.502000 20 5 0 0 1 0 0 OR8J1 219477 broad.mit.edu 37 11 56128248 56128248 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:56128248C>T uc010rjh.2 + 0 558 c.526C>T c.(526-528)Cat>Tat p.H176Y NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA. 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) TATAATCAATCATTTTTACTG 0.368000 34 4 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 124992898 124992898 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:124992898G>A uc003yqw.3 + 10 1463 c.1257G>A c.(1255-1257)ctG>ctA p.L419L NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 419 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CCAAGGCCCTGAAGGAGCTCA 0.463000 OREG0018964 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 61 4 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60640706 60640706 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:60640706C>T uc001nqd.3 + 6 1204 c.1184C>T c.(1183-1185)tCg>tTg p.S395L ZP1_uc001nqe.3_Missense_Mutation_p.S102L NM_207341 NP_997224 P60852 ZP1_HUMAN Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA. 395 ZP. single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CCACCCCCATCGCCTGCTCCT 0.602000 240 21 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525106 248525106 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:248525106C>T uc001ieh.1 + 0 224 c.224C>T c.(223-225)gCt>gTt p.A75V NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA. 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTGGAAATGCTGTCCTGATC 0.463000 234 8 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152831412 152831412 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:152831412G>A uc021zhb.1 - 5 720 c.497C>T c.(496-498)cCa>cTa p.P166L SYNE1_uc003qot.4_Missense_Mutation_p.P173L|SYNE1_uc003qou.4_Missense_Mutation_p.P166L|SYNE1_uc010kjb.1_Missense_Mutation_p.P166L|SYNE1_uc003qpa.1_Missense_Mutation_p.P166L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 166 Actin-binding. Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere 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) TTTACTTGGTGGGCTGGGAGT 0.488000 HNSCC(10;0.0054) 86 4 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31590848 31590848 + Missense_Mutation SNP C T T rs61731083 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:31590848C>T uc002rnv.1 - 19 2255 c.2176G>A c.(2176-2178)Gaa>Aaa p.E726K NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 726 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TTATCTGCTTCGGAAAACCCC 0.448000 213 8 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34174747 34174747 + Missense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:34174747C>A uc001bxm.1 - 21 3695 c.3518G>T c.(3517-3519)gGg>gTg p.G1173V CSMD2_uc001bxn.1_Missense_Mutation_p.G1133V|CSMD2_uc001bxo.1_Missense_Mutation_p.G46V NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1133 CUB 7. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AATTCCCTTCCCTGGCTGGGT 0.453000 135 21 2.41591e-17 2.44762e-17 1 1 0 MGAT4C 25834 broad.mit.edu 37 12 86377425 86377425 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:86377425C>T uc010sum.2 - 4 402 c.243G>A c.(241-243)agG>agA p.R81R MGAT4C_uc001tal.4_Silent_p.R57R|MGAT4C_uc001taj.4_Silent_p.R57R|MGAT4C_uc001tak.4_Silent_p.R57R|MGAT4C_uc001tai.4_Silent_p.R57R|MGAT4C_uc001tah.4_Silent_p.R57R NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA. 57 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TGGATGTTTCCCTTATAAGTT 0.328000 99 9 0 0 1 0 0 MBD3L1 85509 broad.mit.edu 37 19 8953433 8953433 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:8953433C>T uc002mko.2 + 0 165 c.79C>T c.(79-81)Cct>Tct p.P27S NM_145208 NP_660209 Q8WWY6 MB3L1_HUMAN Homo sapiens methyl-CpG binding domain protein 3-like 1 (MBD3L1), mRNA. 27 Transcription repressor. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 12 CACCTCAATCCCTTTGAGAAT 0.468000 64 6 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28991248 28991248 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:28991248G>A uc002kwr.2 + 13 2384 c.2249G>A c.(2248-2250)gGa>gAa p.G750E DSG4_uc002kwq.2_Missense_Mutation_p.G731E NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 731 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GGTGTATCGGGAGTGGAGCTC 0.602000 114 16 0 0 1 0 0 DZIP1 22873 broad.mit.edu 37 13 96264374 96264374 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:96264374T>C uc001vmk.3 - 10 2083 c.1231A>G c.(1231-1233)Aat>Gat p.N411D DZIP1_uc001vml.3_Missense_Mutation_p.N411D NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA. 411 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) tagaaaacattgcttgcattt 0.413000 62 4 0 0 1 0 0 ESRRB 2103 broad.mit.edu 37 14 76906017 76906017 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:76906017G>A uc001xsr.3 + 3 692 c.321G>A c.(319-321)ggG>ggA p.G107G ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Silent_p.G107G NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN Homo sapiens estrogen-related receptor beta (ESRRB), mRNA. 107 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.C106Y(1) endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) TCGTGTGCGGGGACATTGCCT 0.617000 46 9 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12656186 12656186 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:12656186G>A uc002gno.2 + 9 1880 c.1581G>A c.(1579-1581)gtG>gtA p.V527V MYOCD_uc002gnn.2_Silent_p.V527V|MYOCD_uc002gnp.1_Silent_p.V431V|MYOCD_uc002gnq.2_Silent_p.V246V NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 527 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AGCAGAAGGTGATCAATGAAC 0.517000 23 7 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73480400 73480400 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:73480400A>T uc003xzb.3 + 1 1019 c.431A>T c.(430-432)aAa>aTa p.K144I NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 144 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.Q143K(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TATCATCAAAAAAAAGAACAA 0.448000 81 5 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924156 188924156 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:188924156G>A uc003izh.1 + 3 603 c.195G>A c.(193-195)ggG>ggA p.G65G ZFP42_uc003izi.1_Silent_p.G65G|ZFP42_uc021xvm.1_Silent_p.G65G NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA. 65 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) CTCTCGGAGGGGATGATTTCT 0.507000 60 4 0 0 1 0 0 SLC10A4 201780 broad.mit.edu 37 4 48486970 48486970 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:48486970C>T uc003gyc.2 + 1 831 c.612C>T c.(610-612)tcC>tcT p.S204S NM_152679 NP_689892 Q96EP9 NTCP4_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA. 204 integral to membrane bile acid:sodium symporter activity central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 6 CCATCTCCTCCACGCTTCTGG 0.507000 294 9 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27672913 27672913 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:27672913G>A uc002rku.3 - 35 4053 c.4002C>T c.(4000-4002)gtC>gtT p.V1334V IFT172_uc010ezb.3_Non-coding_Transcript NM_015662 NP_056477 Q9UG01 IF172_HUMAN Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA. 1334 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) CAGCCAGAACGACTTCCATAT 0.473000 84 13 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138946168 138946168 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:138946168C>T uc011kqr.2 + 5 1076 c.1076C>T c.(1075-1077)cCa>cTa p.P359L BC045656_uc022amp.1_5'Flank|UBN2_uc003vuv.3_Missense_Mutation_p.P82L NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN Homo sapiens ubinuclein 2 (UBN2), mRNA. 359 p.P359S(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 AATAAACCCCCATGTGCTGCT 0.473000 86 5 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152708490 152708490 + Nonsense_Mutation SNP C T T rs145493303 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:152708490C>T uc021zhb.1 - 51 8427 c.8204G>A c.(8203-8205)tGg>tAg p.W2735* SYNE1_uc003qot.4_Nonsense_Mutation_p.W2742*|SYNE1_uc003qou.4_Nonsense_Mutation_p.W2735*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.W2718* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 2735 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere 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) ATAGTCATTCCATTGGCTAAT 0.373000 HNSCC(10;0.0054) 63 12 0 0 1 0 0 SEH1L 81929 broad.mit.edu 37 18 12963211 12963211 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:12963211T>C uc002krq.3 + 3 500 c.362T>C c.(361-363)tTt>tCt p.F121S SEH1L_uc002krr.3_Missense_Mutation_p.F121S NM_001013437 NP_001013455 Q96EE3 SEH1_HUMAN Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA. 121 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|condensed chromosome kinetochore|cytosol central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 GATGTGAAGTTTGCTCCCAAG 0.363000 142 17 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283337 152283337 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:152283337G>A uc001ezu.1 - 2 4061 c.4025C>T c.(4024-4026)gCt>gTt p.A1342V AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1342 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGATGACACAGCCTGTCCATG 0.552000 Ichthyosis 607 73 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921491 12921491 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:12921491G>A uc001aum.1 + 3 1369 c.1282G>A c.(1282-1284)Gag>Aag p.E428K NM_023014 NP_075390 O60811 PRAM2_HUMAN Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. 428 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGTCAATTGGGAGATCTTCAC 0.567000 182 17 0 0 1 0 0 TTLL12 23170 broad.mit.edu 37 22 43568525 43568525 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:43568525G>A uc003bdq.3 - 9 1439 c.1377C>T c.(1375-1377)ttC>ttT p.F459F TTLL12_uc003bdp.3_5'Flank|TTLL12_uc021wqu.1_5'Flank NM_015140 NP_055955 Q14166 TTL12_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA. 459 TTL. protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) CTTCTCGAAGGAACAACACGG 0.582000 112 15 0 0 1 0 0 CERS6 253782 broad.mit.edu 37 2 169571510 169571510 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:169571510G>A uc002uec.1 + 7 734 c.610_splice c.e7-1 p.D204_splice CERS6_uc002ueb.1_Splice_Site_p.D204_splice NM_203463 NP_982288 Q6ZMG9 CERS6_HUMAN Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA. 204 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity CTTTCCTCAAGGACTTTGGCA 0.403000 140 12 0 0 1 0 0 OR10H3 26532 broad.mit.edu 37 19 15852311 15852311 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:15852311C>T uc010xoq.2 + 0 109 c.109C>T c.(109-111)Ctg>Ttg p.L37L NM_013938 NP_039226 O60404 O10H3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA. 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CCTGATGTTCCTGTTCACATT 0.498000 222 24 0 0 1 0 0 CACNG7 59284 broad.mit.edu 37 19 54417818 54417818 + Silent SNP G A A rs149797266 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:54417818G>A uc002qcr.2 + 1 356 c.261G>A c.(259-261)acG>acA p.T87T CACNG7_uc010era.2_Silent_p.T87T NM_031896 NP_114102 P62955 CCG7_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA. 87 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) ATTTGGTGACGGAAAACACGG 0.552000 85 8 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16026106 16026106 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:16026106G>A uc010lsu.3 - 3 609 c.545C>T c.(544-546)tCc>tTc p.S182F MSR1_uc003wwz.3_Missense_Mutation_p.S164F|MSR1_uc003wxa.3_Missense_Mutation_p.S164F|MSR1_uc003wxb.3_Missense_Mutation_p.S164F|MSR1_uc011kxz.2_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA. 164 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CTGGACTGAGGAAAACAAGGT 0.388000 108 11 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16359754 16359754 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:16359754G>A uc002wpg.2 - 18 3052 c.2893C>T c.(2893-2895)Cag>Tag p.Q965* KIF16B_uc002wpe.1_Nonsense_Mutation_p.Q347*|KIF16B_uc002wpf.1_Nonsense_Mutation_p.Q347*|KIF16B_uc010gch.2_Nonsense_Mutation_p.Q965*|KIF16B_uc010gci.2_Nonsense_Mutation_p.Q965*|KIF16B_uc010gcj.2_Nonsense_Mutation_p.Q976* NM_024704 NP_078980 Q96L93 KI16B_HUMAN Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA. 965 Glu-rich. Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TTTTGCAGCTGGTTTGCATTG 0.443000 123 10 0 0 1 0 0 MEPCE 56257 broad.mit.edu 37 7 100028737 100028737 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:100028737C>T uc003uuw.3 + 0 1484 c.1096C>T c.(1096-1098)Cgc>Tgc p.R366C ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_5'UTR|MEPCE_uc022aio.1_5'UTR|MEPCE_uc003uuv.3_5'UTR NM_019606 NP_062552 Q7L2J0 MEPCE_HUMAN Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA. 366 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCGCAAACGTCGCAGGACTTC 0.637000 224 9 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 241973164 241973164 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:241973164C>T uc002wah.1 + 2 514 c.514C>T c.(514-516)Cag>Tag p.Q172* NM_001080437 NP_001073906 Q8TER0 SNED1_HUMAN Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA. 172 NIDO. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) CAACACATTCCAGACTGTGCT 0.617000 32 3 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2408369 2408369 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:2408369G>A uc010xgx.2 + 6 756 c.756G>A c.(754-756)acG>acA p.T252T TMPRSS9_uc002lvv.1_Silent_p.T286T NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA. 252 Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) AAGACCCGACGAAGTGGGTGG 0.657000 68 5 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64619151 64619151 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:64619151G>A uc003dmg.3 - 13 2204 c.2172C>T c.(2170-2172)tgC>tgT p.C724C ADAMTS9_uc011bfo.2_Silent_p.C696C|ADAMTS9_uc003dmh.1_Silent_p.C553C|ADAMTS9_uc003dmk.1_Silent_p.C724C NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA. 724 Cys-rich. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GACTTACCCGGCAAAGGCCCT 0.488000 93 11 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26731734 26731734 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:26731734T>C uc001rhg.3 - 33 4959 c.4542A>G c.(4540-4542)caA>caG p.Q1514Q NM_002223 NP_002214 Q14571 ITPR2_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA. 1514 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TGAAGGCAGATTGCAGTAGCT 0.433000 52 5 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48701833 48701833 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:48701833C>T uc002irk.1 + 36 6714 c.6342C>T c.(6340-6342)atC>atT p.I2114I CACNA1G_uc002irj.1_Silent_p.I1987I|CACNA1G_uc002irl.1_Silent_p.I1998I|CACNA1G_uc002irm.1_Silent_p.I2035I|CACNA1G_uc002irn.1_Silent_p.I1980I|CACNA1G_uc002iro.1_Silent_p.I1987I|CACNA1G_uc002irp.1_Silent_p.I2069I|CACNA1G_uc002irq.1_Silent_p.I2091I|CACNA1G_uc002irr.1_Silent_p.I2021I|CACNA1G_uc002irs.1_Silent_p.I2058I|CACNA1G_uc002irt.1_Silent_p.I2003I|CACNA1G_uc002iru.1_Silent_p.I2080I|CACNA1G_uc002irv.1_Silent_p.I2010I|CACNA1G_uc002irw.1_Silent_p.I2043I|CACNA1G_uc002irx.1_Silent_p.I1934I|CACNA1G_uc002iry.1_Silent_p.I1923I|CACNA1G_uc002isg.1_Silent_p.I1882I|CACNA1G_uc002ish.1_Silent_p.I1889I|CACNA1G_uc002isi.1_Silent_p.I1877I|CACNA1G_uc002irz.1_Silent_p.I1927I|CACNA1G_uc002isa.1_Silent_p.I1900I|CACNA1G_uc002isd.1_Silent_p.I1909I|CACNA1G_uc002isb.1_Silent_p.I1941I|CACNA1G_uc002isc.1_Silent_p.I2016I|CACNA1G_uc002ise.1_Silent_p.I1937I|CACNA1G_uc002isf.1_Silent_p.I1964I NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 2114 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GGGGCACCATCCCCAAACTGC 0.642000 17 5 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140074636 140074636 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:140074636G>A uc004clr.1 - 9 1960 c.1887C>T c.(1885-1887)ctC>ctT p.L629L ANAPC2_uc004clq.1_Silent_p.L485L NM_013366 NP_037498 Q9UJX6 ANC2_HUMAN Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA. 629 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) GAGGTACCTTGAGCTGCTCAT 0.632000 26 9 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23868229 23868229 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:23868229G>A uc001wjv.3 - 14 1670 c.1599C>T c.(1597-1599)tcC>tcT p.S533S NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 533 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCTCCAGGATGGACATGATGC 0.552000 101 4 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4199694 4199694 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:4199694C>T uc003ghp.1 - 4 897 c.867G>A c.(865-867)tgG>tgA p.W289* NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN Homo sapiens otopetrin 1 (OTOP1), mRNA. 289 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CGATGTTCTTCCACAGGACGT 0.562000 101 4 0 0 1 0 0 OR52E6 390078 broad.mit.edu 37 11 5863071 5863071 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:5863071G>A uc010qzq.2 - 0 57 c.57C>T c.(55-57)atC>atT p.I19I TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA. 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTAGCCCTGGGATACCCAGCA 0.418000 67 7 0 0 1 0 0 WAPAL 23063 broad.mit.edu 37 10 88211797 88211797 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:88211797G>A uc001kdn.3 - 15 3161 c.3152C>T c.(3151-3153)tCc>tTc p.S1051F WAPAL_uc009xsv.3_Intron|WAPAL_uc001kdo.3_Missense_Mutation_p.S1014F|WAPAL_uc009xsw.3_Missense_Mutation_p.S1008F NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA. 1014 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 ACTACAGATGGAAGAATCAAA 0.428000 99 9 0 0 1 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66988929 66988929 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:66988929C>T uc003xvs.1 + 3 445 c.154C>T c.(154-156)Cca>Tca p.P52S DNAJC5B_uc003xvt.1_Non-coding_Transcript NM_033105 NP_149096 Q9UF47 DNJ5B_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA. 52 J. protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) AGACAAGAATCCAGATGATCC 0.383000 98 7 0 0 1 0 0 KIAA1009 22832 broad.mit.edu 37 6 84896193 84896193 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:84896193T>C uc010kbp.3 - 11 1355 c.1258A>G c.(1258-1260)Aat>Gat p.N420D KIAA1009_uc003pkj.4_Missense_Mutation_p.N344D|KIAA1009_uc003pkk.2_Missense_Mutation_p.N420D|KIAA1009_uc003pki.4_5'UTR NM_014895 NP_055710 Q5TB80 QN1_HUMAN Homo sapiens KIAA1009 (KIAA1009), mRNA. 420 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) ATACTCTCATTTGTGGTCTTT 0.333000 186 17 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47991320 47991320 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:47991320C>T uc002xur.1 - 1 943 c.777G>A c.(775-777)aaG>aaA p.K259K KCNB1_uc002xus.1_Silent_p.K259K NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 259 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGAGTGGGCCCTTGAAGAACT 0.542000 77 6 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121787121 121787121 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:121787121C>T uc003ksw.1 + 9 2785 c.2579C>T c.(2578-2580)cCt>cTt p.P860L SNCAIP_uc011cwl.1_Missense_Mutation_p.P418L|SNCAIP_uc003ksy.1_Missense_Mutation_p.P494L|SNCAIP_uc003ksx.1_Missense_Mutation_p.P907L|SNCAIP_uc003ksz.1_Missense_Mutation_p.P494L|SNCAIP_uc010jcu.2_Missense_Mutation_p.P456L|SNCAIP_uc011cwm.1_Missense_Mutation_p.P494L|SNCAIP_uc003kta.1_Missense_Mutation_p.P492L|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.P554L|SNCAIP_uc010jcx.1_Missense_Mutation_p.P800L|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.P376L NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 860 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CTGAAAAGGCCTTTTGGAGCC 0.468000 83 7 0 0 1 0 0 OR5W2 390148 broad.mit.edu 37 11 55682056 55682056 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:55682056C>T uc010rir.2 - 0 3 c.3G>A c.(1-3)atG>atA p.M1I NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA. 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TTTCCCAGTCCATTCTTCCTT 0.343000 54 5 0 0 1 0 0 PSAPL1 768239 broad.mit.edu 37 4 7435454 7435454 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:7435454G>A uc011bwj.2 - 0 1247 c.1153C>T c.(1153-1155)Cca>Tca p.P385S SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron NM_001085382 NP_001078851 Q6NUJ1 SAPL1_HUMAN Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA. 385 sphingolipid metabolic process extracellular region|lysosome lung(4) 4 TCCCACTCTGGGGACGGCACG 0.612000 82 8 0 0 1 0 0 RASSF8 11228 broad.mit.edu 37 12 26217629 26217629 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:26217629T>C uc001rgx.3 + 2 528 c.302T>C c.(301-303)tTa>tCa p.L101S RASSF8_uc001rgy.3_Missense_Mutation_p.L101S|RASSF8_uc001rgz.3_Missense_Mutation_p.L101S|RASSF8_uc009zjd.2_Missense_Mutation_p.L101S|RASSF8_uc009zje.2_Missense_Mutation_p.L101S NM_001164748 NP_001158220 Q8NHQ8 RASF8_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 (RASSF8), transcript variant 3, mRNA. 101 signal transduction cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1) 25 Colorectal(261;0.0847) GAAAGAACTTTATACAGGCAG 0.478000 99 11 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21221024 21221024 + Silent SNP C T T rs150656642 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:21221024C>T uc010bwn.1 - 3 457 c.375G>A c.(373-375)ccG>ccA p.P125P ZP2_uc002dii.2_Silent_p.P86P|ZP2_uc010bwo.3_Silent_p.P125P NM_003460 NP_003451 Q05996 ZP2_HUMAN Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA. 86 binding of sperm to zona pellucida|intracellular protein transport Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) AAGTGCAGTTCGGCATGTCGA 0.498000 82 11 0 0 1 0 0 GDI1 2664 broad.mit.edu 37 X 153670591 153670591 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:153670591C>T uc004fli.4 + 8 1467 c.1125C>T c.(1123-1125)ccC>ccT p.P375P GDI1_uc004flj.3_Silent_p.P40P|FAM50A_uc004fll.4_5'Flank NM_001493 NP_001484 P31150 GDIA_HUMAN Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA. 375 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 16 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGTTGGAGCCCATTGACCAGA 0.627000 76 12 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67108540 67108540 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:67108540A>G uc001dcr.3 + 5 493 c.276A>G c.(274-276)gaA>gaG p.E92E NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA. 92 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex SH3 domain binding|microtubule binding|phospholipid binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 GACCCGAGGAACCCGGCTATA 0.333000 33 5 0 0 1 0 0 TTC25 83538 broad.mit.edu 37 17 40107251 40107251 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:40107251C>T uc002hyj.4 + 8 1253 c.1164C>T c.(1162-1164)ttC>ttT p.F388F NM_031421 NP_113609 Q96NG3 TTC25_HUMAN Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA. 413 cytoplasm protein binding endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) TGAGAGACTTCGAGTCAGCCG 0.542000 25 4 0 0 1 0 0 KLHDC3 116138 broad.mit.edu 37 6 42986153 42986153 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:42986153C>T uc003otl.3 + 5 897 c.592C>T c.(592-594)Cgt>Tgt p.R198C KLHDC3_uc003otn.3_Missense_Mutation_p.R82C|KLHDC3_uc003otm.3_Non-coding_Transcript|KLHDC3_uc021yzr.1_Missense_Mutation_p.R183C|KLHDC3_uc003oto.3_Missense_Mutation_p.R139C NM_057161 NP_476502 Q9BQ90 KLDC3_HUMAN Homo sapiens kelch domain containing 3 (KLHDC3), transcript variant 1, mRNA. 198 reciprocal meiotic recombination cytoplasm|nuclear chromatin chromatin binding|protein binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CTTTGGGGGCCGTGCCGACCG 0.577000 55 4 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57865355 57865355 + Silent SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:57865355A>C uc001snx.3 + 11 2926 c.2832A>C c.(2830-2832)ccA>ccC p.P944P GLI1_uc021qzi.1_Silent_p.P903P|GLI1_uc009zpq.3_Silent_p.P816P NM_005269 NP_001153517 P08151 GLI1_HUMAN Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA. 944 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CTAAAGCTCCAGTGAACACAT 0.562000 83 15 0 0 1 0 0 DEF6 50619 broad.mit.edu 37 6 35289167 35289167 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:35289167G>A uc003okk.3 + 10 1915 c.1876G>A c.(1876-1878)Gat>Aat p.D626N DEF6_uc010jvs.3_Missense_Mutation_p.D601N|DEF6_uc010jvt.3_Missense_Mutation_p.D371N NM_022047 NP_071330 Q9H4E7 DEFI6_HUMAN Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA. 626 cytoplasm|nucleus|plasma membrane cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 15 AGATAAACTGGATCCAGCACC 0.572000 68 7 0 0 1 0 0 STAC2 342667 broad.mit.edu 37 17 37373332 37373332 + Missense_Mutation SNP C G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:37373332C>G uc002hrs.3 - 2 777 c.492G>C c.(490-492)aaG>aaC p.K164N STAC2_uc010cvt.3_Missense_Mutation_p.K22N NM_198993 NP_945344 Q6ZMT1 STAC2_HUMAN Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA. 164 intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 CGCTCACCGTCTTGCCTGGGC 0.577000 70 7 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49633325 49633325 + Splice_Site SNP G T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:49633325G>T uc002pmr.3 + 6 989 c.657_splice c.e6+1 p.Q219_splice PPFIA3_uc010yai.2_Splice_Site|PPFIA3_uc010emt.3_Splice_Site_p.Q143_splice|PPFIA3_uc010yaj.1_Splice_Site|PPFIA3_uc002pms.3_Splice_Site_p.Q87_splice NM_003660 NP_003651 O75145 LIPA3_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA. 219 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GGATGGGCAGGTGAGACATGG 0.547000 75 10 0.00244969 0.00245906 1 1 0 PRPS1L1 221823 broad.mit.edu 37 7 18066902 18066902 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:18066902G>A uc003stz.3 - 0 585 c.504C>T c.(502-504)gtC>gtT p.V168V NM_175886 NP_787082 P21108 PRPS3_HUMAN Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA. 168 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) CATCTGGCGAGACAATAATGC 0.448000 59 5 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16675184 16675184 + Missense_Mutation SNP G A A rs142031622 by1000genomes TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:16675184G>A uc003jft.4 - 34 5210 c.4742C>T c.(4741-4743)tCc>tTc p.S1581F MYO10_uc011cnb.2_Missense_Mutation_p.S210F|MYO10_uc011cnc.2_Missense_Mutation_p.S460F|MYO10_uc011cnd.2_Missense_Mutation_p.S938F|MYO10_uc011cne.2_Missense_Mutation_p.S938F|MYO10_uc010itx.3_Missense_Mutation_p.S1203F NM_012334 NP_036466 Q9HD67 MYO10_HUMAN Homo sapiens myosin X (MYO10), mRNA. 1581 MyTH4. axon guidance|signal transduction myosin complex ATP binding|actin binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GTCAGACATGGACTCCAGTTG 0.502000 44 3 0 0 1 0 0 CTPS2 56474 broad.mit.edu 37 X 16720940 16720940 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:16720940G>A uc004cxk.3 - 1 830 c.86C>T c.(85-87)tCa>tTa p.S29L CTPS2_uc004cxl.3_Missense_Mutation_p.S29L|CTPS2_uc004cxm.3_Missense_Mutation_p.S29L NM_001144002 NP_787055 Q9NRF8 PYRG2_HUMAN Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA. 29 glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) GAGTCCACATGATTTTAGAAT 0.458000 77 21 0 0 1 0 0 TRA 0 broad.mit.edu 37 14 22192421 22192421 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:22192421C>T uc021rpa.1 + 1 324 c.196C>T c.(196-198)Ctt>Ttt p.L66F TRA_uc001wbn.2_Non-coding_Transcript|TRA_uc021rpb.1_Non-coding_Transcript Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36. CCTCCAGTTCCTTCTGAAATA 0.448000 70 10 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160269009 160269009 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:160269009G>A uc002uao.3 - 13 2919 c.2514C>T c.(2512-2514)atC>atT p.I838I BAZ2B_uc002uap.3_Silent_p.I802I|BAZ2B_uc002uaq.1_Silent_p.I668I|BAZ2B_uc002uar.1_Silent_p.I411I NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA. 838 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CCATTGCCCTGATACGAGGAA 0.398000 49 5 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33954658 33954658 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:33954658T>A uc001zhi.3 + 34 4997 c.4927T>A c.(4927-4929)Ttc>Atc p.F1643I RYR3_uc010bar.3_Missense_Mutation_p.F1643I NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 1643 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TATCCGCCTCTTCCCGGACGA 0.572000 38 4 0 0 1 0 0 FAM46B 115572 broad.mit.edu 37 1 27332849 27332849 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:27332849C>T uc010ofj.2 - 1 1036 c.864G>A c.(862-864)cgG>cgA p.R288R BC016143_uc021ojq.1_Intron NM_052943 NP_443175 Q96A09 FA46B_HUMAN Homo sapiens family with sequence similarity 46, member B (FAM46B), mRNA. 288 breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) GCCGGAAGCCCCGCACCAGGA 0.687000 30 8 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10404775 10404775 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:10404775C>T uc002gmo.3 - 26 3484 c.3390G>A c.(3388-3390)cgG>cgA p.R1130R AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1130 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity p.R1130W(1)|p.R1130P(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CCCGGGAGGCCCGCTCTGCCT 0.572000 71 4 0 0 1 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651402 1651402 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:1651402C>T uc001lty.3 + 0 370 c.332C>T c.(331-333)tCc>tTc p.S111F MOB2_uc001ltq.2_Intron NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA. 111 8 X 4 AA repeats of C-C-X-P. Missing (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCCTGTGGCTCCTGTGGGGGG 0.697000 141 10 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72050905 72050905 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:72050905C>T uc001swo.2 - 1 1134 c.775G>A c.(775-777)Gaa>Aaa p.E259K ZFC3H1_uc010sts.2_Missense_Mutation_p.E259K|ZFC3H1_uc001swp.3_Missense_Mutation_p.E259K NM_144982 NP_659419 O60293 ZC3H1_HUMAN Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA. 259 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TTAGGATCTTCCTGCACATTC 0.348000 56 7 0 0 1 0 0 CORO2A 7464 broad.mit.edu 37 9 100888950 100888950 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:100888950A>T uc004aym.3 - 10 1443 c.1327T>A c.(1327-1329)Tcc>Acc p.S443T CORO2A_uc004ayl.3_Missense_Mutation_p.S443T|CORO2A_uc004ayk.3_Missense_Mutation_p.S90T NM_052820 NP_438171 Q92828 COR2A_HUMAN Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA. 443 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding p.S442F(1) endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) TCCAACAGGGAGGAAGACCTC 0.552000 202 41 0 0 1 0 0 PUS7L 83448 broad.mit.edu 37 12 44142400 44142400 + Missense_Mutation SNP C T T rs145814117 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:44142400C>T uc001rns.4 - 2 1003 c.923G>A c.(922-924)cGa>cAa p.R308Q PUS7L_uc001rnq.4_Missense_Mutation_p.R308Q|PUS7L_uc001rnr.4_Missense_Mutation_p.R308Q|PUS7L_uc009zkb.3_5'UTR NM_031292 NP_112582 Q9H0K6 PUS7L_HUMAN Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA. 308 pseudouridine synthesis|tRNA processing RNA binding|pseudouridine synthase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) GTTTTCCTTTCGTAGGGTAAA 0.318000 23 3 0 0 1 0 0 CACNG2 10369 broad.mit.edu 37 22 36983535 36983535 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:36983535G>A uc003aps.2 - 1 341 c.272C>T c.(271-273)gCt>gTt p.A91V NM_006078 NP_006069 Q9Y698 CCG2_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA. 91 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 TGCTGTGTCAGCTTCGTAATC 0.483000 214 19 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8668687 8668687 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:8668687C>T uc002mkj.1 - 4 791 c.517G>A c.(517-519)Gaa>Aaa p.E173K ADAMTS10_uc002mkk.1_5'UTR NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 173 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 GGTCCACTTTCCTCCGGGCTC 0.602000 65 4 0 0 1 0 0 FAM5C 339479 broad.mit.edu 37 1 190067681 190067681 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:190067681C>T uc001gse.1 - 7 2000 c.1768G>A c.(1768-1770)Gaa>Aaa p.E590K FAM5C_uc010pot.1_Missense_Mutation_p.E488K NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 590 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AAGCTGTTTTCATTCACAGGC 0.458000 275 10 0 0 1 0 0 ATRN 8455 broad.mit.edu 37 20 3571950 3571950 + Missense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:3571950C>A uc002wim.2 + 18 3409 c.3319C>A c.(3319-3321)Cag>Aag p.Q1107K ATRN_uc002wil.2_Missense_Mutation_p.Q1107K|ATRN_uc021vzz.1_Missense_Mutation_p.Q991K NM_139321 NP_647537 O75882 ATRN_HUMAN Homo sapiens attractin (ATRN), transcript variant 1, mRNA. 1107 Laminin EGF-like 1. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 AGGGAAATGTCAGCGTAAGTC 0.463000 144 16 9.7654e-05 9.82781e-05 1 1 0 CDH13 1012 broad.mit.edu 37 16 83711990 83711990 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:83711990G>A uc010vns.2 + 10 1867 c.1603G>A c.(1603-1605)Gag>Aag p.E535K CDH13_uc002fgx.3_Missense_Mutation_p.E488K|CDH13_uc010vnt.2_Missense_Mutation_p.E234K|CDH13_uc010vnu.2_Missense_Mutation_p.E449K NM_001220488 NP_001207417 P55290 CAD13_HUMAN Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA. 488 Cadherin 4. Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) GACCAGGCAGGAGGACCTCTC 0.622000 82 6 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111155743 111155743 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:111155743C>T uc004epl.1 - 2 1595 c.676G>A c.(676-678)Gag>Aag p.E226K TRPC5_uc004epm.1_Missense_Mutation_p.E226K NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA. 226 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TCCTTGAGCTCCCAGCCCAGA 0.552000 140 29 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143093092 143093092 + Silent SNP G A A rs35448483 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:143093092G>A uc003qjd.3 - 4 3527 c.2784C>T c.(2782-2784)tcC>tcT p.S928S NM_006734 NP_006725 P31629 ZEP2_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA. 928 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CGGGGAGCTGGGAAAGGGTCT 0.547000 55 4 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146536811 146536811 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:146536811G>A uc003weu.2 + 2 733 c.217G>A c.(217-219)Gga>Aga p.G73R NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 73 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AGGTGCTGGGGGATGGTCTCC 0.428000 HNSCC(39;0.1) 91 8 0 0 1 0 0 ZNF214 7761 broad.mit.edu 37 11 7022237 7022237 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:7022237C>T uc009yfh.1 - 2 976 c.677G>A c.(676-678)gGa>gAa p.G226E ZNF214_uc001mfa.2_Missense_Mutation_p.G226E|ZNF214_uc010ray.1_Missense_Mutation_p.G226E NM_013249 NP_037381 Q9UL59 ZN214_HUMAN Homo sapiens zinc finger protein 214 (ZNF214), mRNA. 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) ATAATAAATTCCTTTACATTT 0.408000 60 5 0 0 1 0 0 OR13C4 138804 broad.mit.edu 37 9 107288855 107288855 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:107288855G>A uc011lvn.2 - 0 636 c.636C>T c.(634-636)ctC>ctT p.L212L NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA. 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 AAAAAATCACGAGCAGAGGAA 0.418000 63 10 0 0 1 0 0 NOV 4856 broad.mit.edu 37 8 120430338 120430338 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:120430338C>T uc003yoq.2 + 2 572 c.351C>T c.(349-351)taC>taT p.Y117Y NM_002514 NP_002505 P48745 NOV_HUMAN Homo sapiens nephroblastoma overexpressed gene (NOV), mRNA. 117 VWFC. regulation of cell growth growth factor activity|insulin-like growth factor binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3) 21 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGGTCATCTACCGCAGTGGAG 0.493000 75 7 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71724778 71724778 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:71724778G>A uc001orl.1 - 14 3943 c.3771C>T c.(3769-3771)gcC>gcT p.A1257A NUMA1_uc009ysw.1_Silent_p.A820A|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.A1257A|NUMA1_uc001orn.2_Silent_p.A820A|NUMA1_uc009ysx.1_Silent_p.A1257A|NUMA1_uc001oro.1_Silent_p.A1257A NM_006185 NP_006176 Q14980 NUMA1_HUMAN Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA. 1257 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 TCTCTGACTCGGCCATCACCA 0.607000 T RARA APL 112 8 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154395297 154395297 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:154395297G>A uc010jih.1 + 0 2038 c.1878G>A c.(1876-1878)aaG>aaA p.K626K NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 626 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGAAACTAAAGGAATCCACAG 0.458000 125 6 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82447627 82447627 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:82447627C>T uc001dit.4 + 17 3379 c.3198C>T c.(3196-3198)ttC>ttT p.F1066F LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.F1066F|LPHN2_uc001div.3_Silent_p.F1066F|LPHN2_uc009wcd.3_Silent_p.F1066F|LPHN2_uc001diw.3_Silent_p.F650F|LPHN2_uc009wce.1_Silent_p.F167F NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 1079 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AGGGAGTGTTCATTTTCATCT 0.358000 44 4 0 0 1 0 0 SCAF11 9169 broad.mit.edu 37 12 46320976 46320976 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:46320976C>T uc001rox.3 - 10 2795 c.2508G>A c.(2506-2508)aaG>aaA p.K836K SCAF11_uc001row.3_Silent_p.K521K|SCAF11_uc001roy.1_Silent_p.K910K NM_004719 NP_004710 Q99590 SCAFB_HUMAN Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA. 836 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 CTGACTCATTCTTAGGAGATG 0.483000 89 9 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074907 9074907 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9074907C>T uc002mkp.3 - 2 12743 c.12539G>A c.(12538-12540)gGg>gAg p.G4180E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4182 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGACTGTGCCCTTGTGATGT 0.522000 46 7 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1559773 1559773 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:1559773G>A uc002fte.3 - 35 5820 c.5706C>T c.(5704-5706)ttC>ttT p.F1902F NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA. 1902 Involved in interaction with pre-mRNA 5' splice site. U5 snRNP|catalytic step 2 spliceosome|nuclear speck RNA binding|protein binding p.F1902F(2) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TGAGATCCCCGAATTTTTCCA 0.478000 110 10 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7635594 7635594 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:7635594G>A uc001qsz.3 - 12 3223 c.3095C>T c.(3094-3096)tCa>tTa p.S1032L CD163_uc001qta.3_Missense_Mutation_p.S1032L|CD163_uc009zfw.2_Missense_Mutation_p.S1065L NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 1032 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TTTCTGCACTGAAATATCTGT 0.358000 80 5 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114182125 114182125 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:114182125G>A uc001kzu.3 + 16 1799 c.1687G>A c.(1687-1689)Gac>Aac p.D563N ACSL5_uc001kzs.3_Missense_Mutation_p.D507N|ACSL5_uc001kzt.3_Missense_Mutation_p.D507N|ACSL5_uc009xxz.3_Missense_Mutation_p.D507N|ACSL5_uc010qrj.2_Missense_Mutation_p.D289N NM_016234 NP_976314 Q9ULC5 ACSL5_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA. 507 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) ATACCTGAAGGACCCTGAGAA 0.542000 76 7 0 0 1 0 0 RABL3 285282 broad.mit.edu 37 3 120461386 120461386 + Splice_Site SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:120461386T>C uc003edx.3 - 1 1 c.-29_splice c.e1-1 GTF2E1_uc003edz.4_5'Flank NM_173825 NP_776186 Q5HYI8 RABL3_HUMAN Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA. small GTPase mediated signal transduction GTP binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10) 17 GBM - Glioblastoma multiforme(114;0.151) TTAACGCCTGTTCCTGGATTG 0.547000 37 5 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126137058 126137058 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:126137058C>T uc001uhe.1 + 7 1979 c.1971C>T c.(1969-1971)atC>atT p.I657I TMEM132B_uc001uhf.1_Silent_p.I169I NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 657 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GAGTCACCATCGCGGAGCTGG 0.587000 81 6 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15061159 15061159 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:15061159C>T uc002naa.1 - 8 1550 c.1543G>A c.(1543-1545)Gga>Aga p.G515R SLC1A6_uc010dzu.1_Missense_Mutation_p.G437R|SLC1A6_uc010xod.1_Missense_Mutation_p.G451R NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 515 synaptic transmission integral to plasma membrane|membrane fraction L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) ACGGCCGCTCCAATTGAGTCC 0.562000 90 9 0 0 1 0 0 MTSS1 9788 broad.mit.edu 37 8 125565887 125565887 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:125565887A>T uc003yrl.2 - 14 2160 c.1626T>A c.(1624-1626)gaT>gaA p.D542E NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.D187E|MTSS1_uc011lin.1_Missense_Mutation_p.D312E|MTSS1_uc011lio.1_Missense_Mutation_p.D428E|MTSS1_uc003yri.2_Missense_Mutation_p.D256E|MTSS1_uc003yrj.2_Missense_Mutation_p.D513E|MTSS1_uc003yrk.2_Missense_Mutation_p.D538E NM_014751 NP_055566 O43312 MTSS1_HUMAN Homo sapiens metastasis suppressor 1 (MTSS1), mRNA. 538 actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) ACTCCTGCTGATCTGCCTCCT 0.458000 83 5 0 0 1 0 0 AOAH 313 broad.mit.edu 37 7 36588231 36588231 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:36588231C>T uc022abu.1 - 14 1521 c.1120G>A c.(1120-1122)Gat>Aat p.D374N AOAH_uc003tfh.4_Missense_Mutation_p.D374N|AOAH_uc011kba.2_Missense_Mutation_p.D342N NM_001177506 NP_001170977 P28039 AOAH_HUMAN Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA. 374 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 CTGCAGACATCATTTCCAATC 0.438000 112 8 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119427361 119427361 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:119427361C>T uc001ehl.1 - 7 1800 c.1485G>A c.(1483-1485)atG>atA p.M495I TBX15_uc009whj.1_Missense_Mutation_p.M319I NM_152380 NP_689593 Q96SF7 TBX15_HUMAN Homo sapiens T-box 15 (TBX15), mRNA. 601 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) GCCTTTAAACCATGTGCACGG 0.532000 109 11 0 0 1 0 0 FTHL17 53940 broad.mit.edu 37 X 31089818 31089818 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:31089818C>T uc004dcl.1 - 0 353 c.253G>A c.(253-255)Gat>Aat p.D85N NM_031894 NP_114100 Q9BXU8 FHL17_HUMAN Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA. 85 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 23 TTCCTGATATCGTGAAGGCAG 0.597000 55 11 0 0 1 0 0 ZNF274 10782 broad.mit.edu 37 19 58723828 58723828 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:58723828C>T uc002qrq.1 + 8 1737 c.1278C>T c.(1276-1278)tcC>tcT p.S426S ZNF274_uc002qrr.1_Silent_p.S394S|ZNF274_uc002qrs.1_Silent_p.S321S|ZNF274_uc010eum.1_Silent_p.S186S NM_133502 NP_598009 Q96GC6 ZN274_HUMAN Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA. 427 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding p.S426N(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) ACCCTGAGTCCCAGGCAAACA 0.458000 90 4 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5662690 5662690 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:5662690G>A uc003sox.2 - 16 2832 c.2573C>T c.(2572-2574)gCc>gTc p.A858V RNF216_uc010ksz.2_Missense_Mutation_p.A423V|RNF216_uc010kta.2_Missense_Mutation_p.A423V|RNF216_uc003soy.2_Missense_Mutation_p.A801V|RNF216_uc011jwj.2_Missense_Mutation_p.A423V NM_207111 NP_996994 Q9NWF9 RN216_HUMAN Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA. 801 Pro-rich. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) GTGCGCGAAGGCATAGGGTGG 0.667000 126 12 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735698 55735698 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:55735698C>T uc010rit.2 - 0 242 c.242G>A c.(241-243)gGa>gAa p.G81E NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA. 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G81E(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) AGAAATATTTCCTTTCTGAGT 0.383000 80 9 0 0 1 0 0 TTC25 83538 broad.mit.edu 37 17 40094894 40094894 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:40094894A>G uc002hyj.4 + 5 799 c.710A>G c.(709-711)aAc>aGc p.N237S TTC25_uc021txp.1_Intron NM_031421 NP_113609 Q96NG3 TTC25_HUMAN Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA. 237 cytoplasm protein binding endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) ACTCACAGCAACTTCTGGAGG 0.587000 185 10 0 0 1 0 0 POLR1B 84172 broad.mit.edu 37 2 113322065 113322065 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:113322065C>T uc002thw.2 + 9 2315 c.1735C>T c.(1735-1737)Cgt>Tgt p.R579C POLR1B_uc010fkn.2_Missense_Mutation_p.R523C|POLR1B_uc002thx.2_Missense_Mutation_p.R440C|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Missense_Mutation_p.R18C|POLR1B_uc002thy.2_Missense_Mutation_p.R440C|POLR1B_uc010yxo.1_Missense_Mutation_p.R356C NM_019014 NP_061887 Q9H9Y6 RPA2_HUMAN Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA. 579 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding p.R579H(1) breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 AGATTCTCTTCGTCATTTTAA 0.507000 142 18 0 0 1 0 0 EXOC1 55763 broad.mit.edu 37 4 56759717 56759717 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:56759717G>A uc003hbe.1 + 15 1883 c.1725_splice c.e15-1 p.E575_splice EXOC1_uc003hbf.1_Splice_Site_p.E575_splice|EXOC1_uc003hbg.1_Splice_Site_p.E560_splice NM_018261 NP_060731 Q9NV70 EXOC1_HUMAN Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA. 575 exocytosis|protein transport exocyst protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) TTTCTGAACAGGAAAGATATG 0.348000 47 6 0 0 1 0 0 LOC649330 649330 broad.mit.edu 37 1 12907981 12907981 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:12907981G>A uc010obf.2 - 1 388 c.162C>T c.(160-162)ttC>ttT p.F54F LOC649330_uc009vno.2_Silent_p.F54F NM_001013631 NP_001013653 B7ZW38 B7ZW38_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA. 54 nucleic acid binding|nucleotide binding CATATTGAACGAAGGCAAAGC 0.473000 187 9 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137139 40137139 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:40137139C>T uc021qgf.1 - 0 704 c.704G>A c.(703-705)aGg>aAg p.R235K LRRC4C_uc001mxc.1_Missense_Mutation_p.R231K|LRRC4C_uc001mxd.1_Missense_Mutation_p.R231K|LRRC4C_uc001mxa.1_Missense_Mutation_p.R235K|LRRC4C_uc001mxb.1_Missense_Mutation_p.R231K NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 235 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) AGAGCCAGGCCTGATGGCAGA 0.458000 66 6 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69400280 69400280 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:69400280C>T uc010lyz.3 + 4 1050 c.759C>T c.(757-759)ctC>ctT p.L253L C8orf34_uc010lyy.2_Silent_p.L253L|C8orf34_uc003xyb.3_Silent_p.L142L NM_052958 NP_443190 Q49A92 CH034_HUMAN Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA. 167 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CAGATGAACTCGATAAGGTAA 0.274000 30 4 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082536 152082537 + Missense_Mutation DNP CC TA TA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:152082536_152082537CC>TA uc009wne.1 - 2 3428_3429 c.3156_3157GG>TA c.(3154-3159)gaggaa>gaTAaa p.1052_1053EE>DK TCHH_uc001ezp.2_Missense_Mutation_p.1052_1053EE>DK NM_007113 NP_009044 Q07283 TRHY_HUMAN Homo sapiens trichohyalin (TCHH), mRNA. 1052 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) agctcctcttcctccCGATATT 0.574000 182 8 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86377445 86377445 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:86377445C>T uc010sum.2 - 4 382 c.223G>A c.(223-225)Gga>Aga p.G75R MGAT4C_uc001tal.4_Missense_Mutation_p.G51R|MGAT4C_uc001taj.4_Missense_Mutation_p.G51R|MGAT4C_uc001tak.4_Missense_Mutation_p.G51R|MGAT4C_uc001tai.4_Missense_Mutation_p.G51R|MGAT4C_uc001tah.4_Missense_Mutation_p.G51R NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA. 51 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TGTTTGTCTCCTTCCTAAATA 0.303000 85 5 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197183364 197183364 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:197183364G>A uc002utm.1 - 8 2433 c.2250C>T c.(2248-2250)gcC>gcT p.A750A HECW2_uc002utl.1_Silent_p.A394A NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 750 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity p.A750A(2) biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GTGGGCTCTCGGCAGCAGCTG 0.657000 55 8 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29054212 29054212 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:29054212G>A uc002kws.3 + 14 2339 c.2230G>A c.(2230-2232)Gga>Aga p.G744R DSG3_uc002kwt.3_Missense_Mutation_p.G26R NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 744 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GACAGTGTCAGGAGCTGCTTC 0.537000 61 7 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47433000 47433000 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:47433000C>T uc002leb.2 - 19 2491 c.2203_splice c.e19-1 p.D735_splice NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 735 Myosin head-like. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TTGTCGGGGTCCTTTACAAGG 0.567000 61 10 0 0 1 0 0 TFR2 7036 broad.mit.edu 37 7 100229709 100229709 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:100229709C>T uc003uvv.1 - 6 1031 c.962G>A c.(961-963)gGa>gAa p.G321E TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Missense_Mutation_p.G150E NM_003227 NP_003218 Q9UP52 TFR2_HUMAN Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA. 321 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) ACTCACATGTCCATACACTGC 0.582000 120 11 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685746 125685746 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:125685746C>T uc022cds.1 - 0 846 c.846G>A c.(844-846)ttG>ttA p.L282L DCAF12L1_uc004eul.3_Silent_p.L282L NM_178470 NP_848565 Q5VU92 DC121_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA. 282 p.S281F(2) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 AGTAGCCGTCCAAGGACACCG 0.622000 32 8 0 0 1 0 0 RHCE 6006 broad.mit.edu 37 1 25747261 25747261 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:25747261G>A uc001bkf.3 - 0 103 c.17C>T c.(16-18)cCg>cTg p.P6L RHCE_uc001bkg.3_Missense_Mutation_p.P6L|RHCE_uc001bkh.3_Missense_Mutation_p.P6L|RHCE_uc001bki.3_Missense_Mutation_p.P6L|RHCE_uc001bkj.3_Intron NM_020485 NP_065231 P18577 RHCE_HUMAN Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA. 6 integral to plasma membrane endometrium(8)|large_intestine(6)|lung(3) 17 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) GACAGACCGCGGGTACTTAGA 0.572000 26 5 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37307342 37307342 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:37307342C>T uc001caz.2 - 9 1660 c.1525G>A c.(1525-1527)Gac>Aac p.D509N GRIK3_uc001cba.1_Missense_Mutation_p.D509N NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 509 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.I508I(1) breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CTTACGTGGTCGATGAGCTCC 0.592000 112 18 0 0 1 0 0 OPN3 23596 broad.mit.edu 37 1 241761094 241761094 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:241761094G>A uc001hza.3 - 2 1044 c.899C>T c.(898-900)tCg>tTg p.S300L OPN3_uc001hzb.3_Non-coding_Transcript|OPN3_uc001hzc.3_Non-coding_Transcript NM_014322 NP_055137 Q9H1Y3 OPN3_HUMAN Homo sapiens opsin 3 (OPN3), mRNA. 300 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception integral to plasma membrane G-protein coupled photoreceptor activity p.S300S(1) endometrium(1)|large_intestine(5)|lung(5) 11 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) TACAGTGTTCGATTTAGCAAA 0.393000 74 7 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158882728 158882728 + Silent SNP G T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:158882728G>T uc003qrf.3 + 5 2350 c.993G>T c.(991-993)ggG>ggT p.G331G TULP4_uc011efo.2_Silent_p.G331G|TULP4_uc003qrg.3_Silent_p.G331G NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA. 331 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity p.R330L(1) endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) ATGTTCGTGGGGAGCACATCT 0.473000 101 11 2.80697e-09 2.83579e-09 1 1 0 NBPF1 55672 broad.mit.edu 37 1 16907245 16907245 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:16907245A>T uc009vos.1 - 15 2474 c.1586T>A c.(1585-1587)cTc>cAc p.L529H NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.L258H NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 529 NBPF 2. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GCTACCTGGGAGAATGTTTAC 0.423000 705 24 0 0 1 0 0 LTB 4050 broad.mit.edu 37 6 31550168 31550168 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:31550168C>T uc003nuk.3 - 0 35 c.27G>A c.(25-27)agG>agA p.R9R LTB_uc003nul.3_Silent_p.R9R NM_002341 NP_002332 Q06643 TNFC_HUMAN Homo sapiens lymphotoxin beta (TNF superfamily, member 3) (LTB), transcript variant 1, mRNA. 9 cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 9 Infliximab(DB00065)|Simvastatin(DB00641) GCCTCCCACCCCTGCCCTCCA 0.652000 53 5 0 0 1 0 0 ZNF441 126068 broad.mit.edu 37 19 11891306 11891306 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:11891306C>T uc010dyj.3 + 3 861 c.667C>T c.(667-669)Cca>Tca p.P223S ZNF441_uc002msn.4_Missense_Mutation_p.P179S NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN Homo sapiens zinc finger protein 441 (ZNF441), mRNA. 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGAAGAGAAACCATATGAATA 0.393000 49 3 0 0 1 0 0 SCNN1B 6338 broad.mit.edu 37 16 23364134 23364134 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:23364134C>T uc002dln.3 + 2 500 c.324C>T c.(322-324)atC>atT p.I108I NM_000336 NP_000327 P51168 SCNNB_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA. 108 excretion|sensory perception of taste apical plasma membrane WW domain binding|ligand-gated sodium channel activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) ATTCCAAAATCAAGCATTTGC 0.502000 114 11 0 0 1 0 0 GBP6 163351 broad.mit.edu 37 1 89850978 89850978 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:89850978G>A uc001dnf.2 + 10 2126 c.1852G>A c.(1852-1854)Ggt>Agt p.G618S GBP6_uc010ost.1_Missense_Mutation_p.G488S NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA. 618 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) AATTGGTCATGGTGTCAAAGG 0.378000 80 13 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40421187 40421187 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:40421187G>A uc002omp.4 - 4 2742 c.2734C>T c.(2734-2736)Cgg>Tgg p.R912W NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 912 VWFD 2. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGGCTGCCCCGATGCTCGTTT 0.692000 22 3 0 0 1 0 0 SDR42E1 93517 broad.mit.edu 37 16 82034440 82034440 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:82034440C>T uc002fgu.3 - 1 152 c.24G>A c.(22-24)aaG>aaA p.K8K NM_145168 NP_660151 Q8WUS8 D42E1_HUMAN Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA. 8 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 GGACACTTTCCTTTTGAGATC 0.378000 68 10 0 0 1 0 0 ZNF556 80032 broad.mit.edu 37 19 2873536 2873536 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:2873536G>A uc002lwp.1 + 1 133 c.46G>A c.(46-48)Gag>Aag p.E16K ZNF556_uc002lwq.3_Missense_Mutation_p.E16K NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN Homo sapiens zinc finger protein 556 (ZNF556), mRNA. 16 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 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) TTTCACGCTGGAGGAGTGGGC 0.483000 102 14 0 0 1 0 0 CORO7-PAM16 100529144 broad.mit.edu 37 16 4407228 4407228 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:4407228G>A uc002cwf.3 - 25 3069 c.2626C>T c.(2626-2628)Cgg>Tgg p.R876W CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.R656W|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.R876W|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.R858W|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.R791W NM_001201479 NP_001188408 Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA. GATGGGGCCCGACGAGCAGGG 0.612000 55 6 0 0 1 0 0 KCNJ18 100134444 broad.mit.edu 37 17 21319695 21319695 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:21319695G>A uc021tss.1 + 2 1411 c.1041G>A c.(1039-1041)aaG>aaA p.K347K KCNJ18_uc002gyv.1_Silent_p.K347K|KCNJ18_uc021tst.1_Silent_p.K347K NM_001194958 NP_001181887 B7U540 IRK18_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA. 347 integral to membrane inward rectifier potassium channel activity ACTTCCACAAGACCTATGAGG 0.567000 206 9 0 0 1 0 0 URGCP 55665 broad.mit.edu 37 7 43918643 43918644 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:43918643_43918644GG>AA uc003tiw.3 - 5 475_476 c.418_419CC>TT c.(418-420)cca>TTa p.P140L URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.P97L|URGCP_uc003tiv.3_Missense_Mutation_p.P65L|URGCP_uc003tix.3_Missense_Mutation_p.P131L|URGCP_uc003tiy.3_Missense_Mutation_p.P97L|URGCP_uc003tiz.3_Missense_Mutation_p.P97L|URGCP_uc011kbj.2_Missense_Mutation_p.P97L NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 140 cell cycle centrosome|nucleus GTP binding p.P140>?(1) breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCTGGCGTCTGGGAGCACGTCC 0.550000 130 16 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138444500 138444500 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:138444500C>T uc003vuf.3 - 6 874 c.636G>A c.(634-636)gtG>gtA p.V212V ATP6V0A4_uc003vug.3_Silent_p.V212V|ATP6V0A4_uc003vuh.3_Silent_p.V212V NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA. 212 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TTCCCACCGTCACAGGATCCT 0.527000 61 5 0 0 1 0 0 KDM5A 5927 broad.mit.edu 37 12 438196 438196 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:438196C>T uc001qif.1 - 14 2137 c.1774_splice c.e14-1 p.L592_splice KDM5A_uc010sdn.1_Splice_Site_p.L551_splice|KDM5A_uc010sdo.1_Splice_Site_p.L211_splice NM_001042603 NP_001036068 P29375 KDM5A_HUMAN Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA. 592 JmjC. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 CAATGGGCAACTGAAAATGAG 0.423000 T NUP98 AML 35 5 0 0 1 0 0 AQP2 359 broad.mit.edu 37 12 50344791 50344791 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:50344791G>A uc001rvn.3 + 0 268 c.178G>A c.(178-180)Ggc>Agc p.G60S NM_000486 NP_000477 P41181 AQP2_HUMAN Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA. 60 cellular response to copper ion|cellular response to mercury ion|excretion apical plasma membrane|integral to membrane|transport vesicle membrane glycerol transmembrane transporter activity|water channel activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2) 10 ACAGGCTCTGGGCCACATAAG 0.647000 89 8 0 0 1 0 0 ING4 51147 broad.mit.edu 37 12 6760488 6760488 + Splice_Site SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:6760488A>G uc001qpw.4 - 7 751 c.710_splice c.e7+1 p.W237_splice ING4_uc001qpy.4_Splice_Site_p.W233_splice|ING4_uc001qpx.4_Splice_Site_p.W234_splice|ING4_uc009zes.3_Splice_Site|ING4_uc009zet.3_Splice_Site_p.W213_splice|ING4_uc009zeu.3_Splice_Site|ING4_uc009zev.3_Splice_Site|ING4_uc001qpv.4_Splice_Site_p.W236_splice NM_001127582 NP_001121054 Q9UNL4 ING4_HUMAN Homo sapiens inhibitor of growth family, member 4 (ING4), transcript variant 9, mRNA. 237 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|apoptosis|cell cycle arrest|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis histone acetyltransferase complex protein binding|transcription coactivator activity|zinc ion binding central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 10 CCTGCCACTTACCATTTCCCC 0.522000 92 13 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25677814 25677814 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:25677814C>T uc003grr.3 + 12 1597 c.1516C>T c.(1516-1518)Ccg>Tcg p.P506S SLC34A2_uc003grs.3_Missense_Mutation_p.P505S|SLC34A2_uc010iev.3_Missense_Mutation_p.P505S NM_006424 NP_006415 O95436 NPT2B_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA. 506 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) GTACCCGATCCCGTTCACTCG 0.562000 T ROS1 NSCLC 115 6 0 0 1 0 0 SLC12A3 6559 broad.mit.edu 37 16 56936405 56936405 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:56936405G>A uc002ekd.4 + 23 2897 c.2868G>A c.(2866-2868)acG>acA p.T956T SLC12A3_uc010ccm.3_Silent_p.T947T|SLC12A3_uc010ccn.3_Silent_p.T955T NM_000339 NP_000330 P55017 S12A3_HUMAN Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA. 947 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity p.T956T(2) breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) AGGAGATTACGAAGAACAGAG 0.582000 93 7 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75899009 75899009 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:75899009C>T uc021zbv.1 - 5 782 c.747G>A c.(745-747)acG>acA p.T249T COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Silent_p.T249T|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'Flank NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 249 VWFA 1. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength p.T249R(1) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 ATTTTCCATCCGTAATAATAA 0.383000 65 8 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143048914 143048914 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:143048914C>T uc003wcr.1 + 22 2910 c.2823C>T c.(2821-2823)tcC>tcT p.S941S CLCN1_uc011ktc.1_Silent_p.S553S NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 941 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CCCCTCTCTCCCTGGCCCCAG 0.662000 57 4 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121980768 121980768 + Missense_Mutation SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:121980768A>C uc003eew.4 + 3 1324 c.886A>C c.(886-888)Agc>Cgc p.S296R CASR_uc003eev.4_Missense_Mutation_p.S296R NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 296 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity p.A295S(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CTGGCTGGCCAGCGAGGCCTG 0.602000 80 6 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7579585 7579585 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:7579585G>A uc003mxp.1 + 22 3441 c.3162G>A c.(3160-3162)aaG>aaA p.K1054K DSP_uc003mxq.1_Silent_p.K1054K|DSP_uc021yle.1_Silent_p.K1054K NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1054 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ACTGTAATAAGAACAAATTCC 0.473000 58 8 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54847642 54847642 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:54847642C>T uc021smr.1 + 26 5884 c.5884C>T c.(5884-5886)Cga>Tga p.R1962* UNC13C_uc021sms.1_Nonsense_Mutation_p.R1964* NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1964 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GCACATGATTCGAGAGGATGC 0.403000 35 4 0 0 1 0 0 C12orf12 196477 broad.mit.edu 37 12 91347381 91347381 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:91347381C>T uc001tbj.3 - 0 1573 c.1139G>A c.(1138-1140)aGc>aAc p.S380N NM_152638 NP_689851 Q8TC90 CL012_HUMAN Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA. 380 NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 27 AAAAGTGCAGCTTATAAAGTT 0.433000 106 8 0 0 1 0 0 SHC2 25759 broad.mit.edu 37 19 430694 430694 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:430694G>A uc002loq.4 - 8 1164 c.1164C>T c.(1162-1164)tcC>tcT p.S388S NM_012435 NP_036567 P98077 SHC2_HUMAN Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA. 388 CH1. Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway cytosol endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGTACCGGTGGACCCCACGT 0.627000 28 3 0 0 1 0 0 GPR142 350383 broad.mit.edu 37 17 72368006 72368006 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:72368006G>A uc021ucp.1 + 3 656 c.647G>A c.(646-648)gGa>gAa p.G216E GPR142_uc010wqy.2_Missense_Mutation_p.G219E NM_181790 NP_861455 Q7Z601 GP142_HUMAN Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA. 219 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity p.F215L(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CTCCTGCAGGGAGCAGTGCTG 0.632000 48 6 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27803326 27803326 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:27803326G>A uc002rkz.4 + 0 3938 c.3887G>A c.(3886-3888)cGa>cAa p.R1296Q ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA. 1296 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) ATCACCAAGCGACTTAGAAAA 0.408000 77 4 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207737283 207737283 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:207737283G>A uc001hfy.3 + 13 2451 c.2311G>A c.(2311-2313)Gaa>Aaa p.E771K CR1_uc009xcl.1_Intron|CR1_uc001hfx.3_Missense_Mutation_p.E1221K|CR1_uc021pij.1_Missense_Mutation_p.E771K|CR1_uc009xck.1_Intron NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 771 Sushi 12. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 ACCCGGGCAGGAAGTGTTCTA 0.582000 107 7 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152277286 152277286 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:152277286C>T uc001ezu.1 - 2 10112 c.10076G>A c.(10075-10077)gGa>gAa p.G3359E NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3359 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCAGCCTGTCCATGGCCTGA 0.582000 Ichthyosis 677 28 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216405 20216405 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:20216405C>T uc010tkt.2 + 0 819 c.819C>T c.(817-819)tcC>tcT p.S273S NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA. 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGATATTCTCCTTGTTTTACA 0.433000 64 6 0 0 1 0 0 SFXN5 94097 broad.mit.edu 37 2 73198740 73198740 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:73198740C>T uc002siq.3 - 10 831 c.700G>A c.(700-702)Gat>Aat p.D234N SFXN5_uc002sip.3_Intron|SFXN5_uc002sio.3_Missense_Mutation_p.D126N|SFXN5_uc010yrc.2_Missense_Mutation_p.D83N|SFXN5_uc010fet.3_Intron|SFXN5_uc010fer.3_Non-coding_Transcript|SFXN5_uc010feq.3_Missense_Mutation_p.D16N|SFXN5_uc010fes.3_Missense_Mutation_p.D16N NM_144579 NP_653180 Q8TD22 SFXN5_HUMAN Homo sapiens sideroflexin 5 (SFXN5), nuclear gene encoding mitochondrial protein, mRNA. 234 iron ion homeostasis integral to membrane cation transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 AGGTTGCCATCGCTGTCCAGG 0.617000 77 8 0 0 1 0 0 CCDC74A 90557 broad.mit.edu 37 2 132288265 132288265 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:132288265G>A uc002tta.3 + 2 461 c.409G>A c.(409-411)Gag>Aag p.E137K CCDC74A_uc002ttb.3_Intron|CCDC74A_uc021vpq.1_Missense_Mutation_p.E137K|CCDC74A_uc021vpr.1_Missense_Mutation_p.E179K NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA. 137 p.E137E(1) endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 CAGGCTGAAGGAGGGCTCCTC 0.662000 113 8 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65175614 65175614 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:65175614C>T uc003hcv.3 - 5 696 c.587G>A c.(586-588)cGa>cAa p.R196Q TECRL_uc003hcw.3_Missense_Mutation_p.R196Q NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA. 196 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors p.R196P(2) endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 CAAAAGGTATCGGATGTAGTG 0.343000 96 7 0 0 1 0 0 TNFRSF1A 7132 broad.mit.edu 37 12 6443401 6443402 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:6443401_6443402CC>TT uc001qnu.3 - 1 351_352 c.48_49GG>AA c.(46-51)ctggag>ctAAag p.E17K TNFRSF1A_uc001qnt.3_5'UTR|TNFRSF1A_uc010sey.2_5'UTR|TNFRSF1A_uc010sez.2_Intron|TNFRSF1A_uc009zek.3_Missense_Mutation_p.E17K|TNFRSF1A_uc010sfa.2_Missense_Mutation_p.E17K NM_001065 NP_001056 P19438 TNR1A_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA. 17 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity p.L16P(1)|p.L16L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 19 ACCAACAGCTCCAGGAGCACCT 0.515000 64 6 0 0 1 0 0 FAM5B 57795 broad.mit.edu 37 1 177250192 177250192 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:177250192G>A uc001glf.3 + 7 2192 c.1880G>A c.(1879-1881)tGg>tAg p.W627* FAM5B_uc001glg.3_Nonsense_Mutation_p.W522* NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 627 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TGCCAAAACTGGACTATCACC 0.522000 70 6 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141754588 141754588 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141754588C>T uc003vwy.3 + 26 3248 c.3194C>T c.(3193-3195)cCa>cTa p.P1065L NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1065 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TATGAAGTTCCAGTCCCTCTG 0.443000 205 19 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540336 55540336 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:55540336C>T uc003xsd.1 + 3 4042 c.3894C>T c.(3892-3894)ttC>ttT p.F1298F RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1298 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AGGCTTGTTTCCTAGGAGAGG 0.413000 141 18 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39991054 39991054 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:39991054A>G uc002xjy.1 - 3 1379 c.1155T>C c.(1153-1155)tgT>tgC p.C385C NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA. 385 proteinaceous extracellular matrix p.C384Y(1) biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) CTAGTTGCCCACAGCAGCTGC 0.682000 31 5 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52854944 52854944 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:52854944G>A uc001ctt.3 - 6 1363 c.1132C>T c.(1132-1134)Cgt>Tgt p.R378C ORC1_uc010oni.2_Missense_Mutation_p.R378C|ORC1_uc001ctu.3_Missense_Mutation_p.R378C NM_004153 NP_004144 Q13415 ORC1_HUMAN Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA. 378 DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CTGCGGATACGATGGGGAGTA 0.498000 123 15 0 0 1 0 0 DGUOK 1716 broad.mit.edu 37 2 74177718 74177718 + Silent SNP C T T rs139533561 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:74177718C>T uc002sjx.3 + 3 535 c.450C>T c.(448-450)atC>atT p.I150I DGUOK_uc002sjy.3_Intron|DGUOK_uc002sjz.3_Intron NM_080916 NP_550438 Q16854 DGUOK_HUMAN Homo sapiens deoxyguanosine kinase (DGUOK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 150 guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage mitochondrial matrix ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 8 CCAGGTATATCTTTGCAAAGA 0.463000 282 18 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65682496 65682496 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:65682496G>A uc002aou.1 - 12 2615 c.2405C>T c.(2404-2406)aCc>aTc p.T802I IGDCC4_uc002aot.1_Missense_Mutation_p.T390I NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA. 802 Fibronectin type-III 4. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 TCCCCACCTGGTGTAATAGGT 0.547000 110 13 0 0 1 0 0 ST3GAL1 6482 broad.mit.edu 37 8 134474154 134474154 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:134474154G>A uc003yuk.2 - 8 1642 c.813C>T c.(811-813)atC>atT p.I271I ST3GAL1_uc003yum.2_Silent_p.I271I NM_173344 NP_775479 Q11201 SIA4A_HUMAN Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA. 271 protein glycosylation Golgi cisterna membrane|extracellular region|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) TGACCGAGAGGATGCCGGTAG 0.572000 215 18 0 0 1 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47365968 47365968 + RNA SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:47365968G>A uc001cqo.1 - 0 c.180C>T CYP4Z2P_uc009vyn.1_Non-coding_Transcript Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA. GGGGGTGCAGGAAACAGGTGC 0.488000 55 7 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57325937 57325937 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:57325937G>A uc002qnu.2 - 6 4224 c.3873C>T c.(3871-3873)ttC>ttT p.F1291F PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.F1262F|PEG3_uc002qnv.2_Silent_p.F1291F|PEG3_uc002qnw.2_Silent_p.F1167F|PEG3_uc002qnx.2_Silent_p.F1165F|PEG3_uc010etr.2_Silent_p.F1291F NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 1291 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTGGGTTGACGAAAGATTCTC 0.478000 49 9 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10387232 10387232 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:10387232C>T uc003bvt.3 - 17 2978 c.2539G>A c.(2539-2541)Gag>Aag p.E847K ATP2B2_uc003bvv.3_Missense_Mutation_p.E802K|ATP2B2_uc003bvw.3_Missense_Mutation_p.E802K|ATP2B2_uc010hdo.3_Missense_Mutation_p.E552K NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA. 847 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding p.E802K(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 TCTGAGGCCTCCTTGGCCACG 0.587000 71 6 0 0 1 0 0 PPP1R21 129285 broad.mit.edu 37 2 48685349 48685349 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:48685349G>A uc002rwm.3 + 3 543 c.358G>A c.(358-360)Gaa>Aaa p.E120K PPP1R21_uc002rwi.1_Missense_Mutation_p.E120K|PPP1R21_uc002rwj.3_Missense_Mutation_p.E120K|PPP1R21_uc002rwl.3_Missense_Mutation_p.E74K|PPP1R21_uc002rwk.3_Missense_Mutation_p.E120K|PPP1R21_uc010yok.2_Missense_Mutation_p.E120K NM_001135629 NP_001129101 Q6ZMI0 KLRAQ_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 21 (PPP1R21), transcript variant 1, mRNA. 120 endometrium(2)|kidney(4)|lung(9) 15 AGAAGAGAATGAACGGTTGCA 0.348000 111 6 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8185662 8185662 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:8185662G>A uc003wsh.4 - 3 2630 c.2630C>T c.(2629-2631)tCc>tTc p.S877F NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA. 877 ATP binding|non-membrane spanning protein tyrosine kinase activity CAGAGGATCGGAAGAGGAGAA 0.602000 359 27 0 0 1 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45457736 45457736 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:45457736C>T uc001rol.3 - 0 c.1459G>A Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. CAATGTGTCCCTGTTGGCCTG 0.463000 74 6 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57415170 57415170 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:57415170G>A uc021wfl.1 + 0 376 c.9G>A c.(7-9)cgG>cgA p.R3R GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Silent_p.R3R|GNAS_uc010gjq.3_5'Flank NM_016592 NP_057676 P63092 GNAS2_HUMAN Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA. 0 C -> Y (in Ref. 8; AAH66923). G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GGATGGATCGGAGGTCCCGGG 0.657000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 76 8 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166701 19166701 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:19166701G>A uc001bba.1 - 5 1913 c.1912C>T c.(1912-1914)Ccc>Tcc p.P638S NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA. 638 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) AAGCAGAGGGGAAAGAGGGCC 0.612000 100 10 0 0 1 0 0 FDX1L 112812 broad.mit.edu 37 19 10426588 10426589 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:10426588_10426589CC>TT uc002mny.1 - 0 103_104 c.84_85GG>AA c.(82-87)gggggc>ggAAgc p.G29S FDX1L_uc002mnx.1_Non-coding_Transcript NM_001031734 NP_001026904 Q6P4F2 ADXL_HUMAN Homo sapiens ferredoxin 1-like (FDX1L), nuclear gene encoding mitochondrial protein, mRNA. 29 electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06) CCGGAAGTGCCCCCAGGTCTGT 0.673000 43 3 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81941314 81941314 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:81941314A>G uc002fgt.3 + 15 1670 c.1492A>G c.(1492-1494)Att>Gtt p.I498V PLCG2_uc010chg.1_Missense_Mutation_p.I498V NM_002661 NP_002652 P16885 PLCG2_HUMAN Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA. 498 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CTACTGCGCCATTGCCGATGC 0.557000 85 6 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67782384 67782384 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:67782384G>A uc002aqo.2 + 18 2940 c.2843G>A c.(2842-2844)aGa>aAa p.R948K IQCH_uc002aqp.2_Intron|IQCH_uc002aqq.2_Missense_Mutation_p.R605K|LOC100506686_uc002aqr.2_Intron|LOC100506686_uc021spf.1_Intron NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA. 948 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CACCTGAAGAGACACAAGTTG 0.343000 174 16 0 0 1 0 0 UGT3A2 167127 broad.mit.edu 37 5 36039616 36039616 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:36039616C>T uc003jjz.2 - 4 1170 c.1038G>A c.(1036-1038)gtG>gtA p.V346V UGT3A2_uc011cos.2_Silent_p.V312V|UGT3A2_uc011cot.2_Silent_p.V44V NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA. 346 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCACAATTTTCACATTTGCAG 0.532000 119 11 0 0 1 0 0 SPRR2F 6705 broad.mit.edu 37 1 153085178 153085178 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:153085178G>A uc001fbi.3 - 1 91 c.32C>T c.(31-33)cCc>cTc p.P11L SPRR2A_uc001fbf.3_Intron|SPRR2F_uc021ozt.1_Missense_Mutation_p.P11L NM_001014450 NP_001014450 Q96RM1 SPR2F_HUMAN Homo sapiens small proline-rich protein 2F (SPRR2F), mRNA. 11 keratinization cornified envelope|cytoplasm large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 4 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGGCTGGCAGGGCTGCTTGCA 0.567000 198 10 0 0 1 0 0 TEPP 374739 broad.mit.edu 37 16 58011902 58011902 + Missense_Mutation SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:58011902T>G uc002emv.4 + 1 384 c.347T>G c.(346-348)cTt>cGt p.L116R TEPP_uc002emw.4_Missense_Mutation_p.L116R NM_199046 NP_950247 Q6URK8 TEPP_HUMAN Homo sapiens testis, prostate and placenta expressed (TEPP), transcript variant 1, mRNA. 116 extracellular region central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 8 AAGGCCTGCCTTCCTGATGAG 0.627000 55 4 0 0 1 0 0 MRE11A 4361 broad.mit.edu 37 11 94153332 94153332 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:94153332G>A uc009ywj.2 - 19 2415 c.2095C>T c.(2095-2097)Cct>Tct p.P699S MRE11A_uc001peu.2_Missense_Mutation_p.P696S|MRE11A_uc001pev.2_Missense_Mutation_p.P668S P49959 MRE11_HUMAN Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA. 696 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) TTCATAAAAGGATCATCATCA 0.323000 Homologous recombination Ataxia-Telangiectasia-Like Disorder 76 7 0 0 1 0 0 CALB1 793 broad.mit.edu 37 8 91094893 91094893 + Silent SNP G A A rs11556994 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:91094893G>A uc003yel.1 - 0 215 c.33C>T c.(31-33)atC>atT p.I11I CALB1_uc003yem.1_Intron|CALB1_uc011lge.1_5'Flank NM_004929 NP_004920 P05937 CALB1_HUMAN Homo sapiens calbindin 1, 28kDa (CALB1), mRNA. 11 EF-hand 1. nucleus calcium ion binding|vitamin D binding breast(1)|kidney(1)|lung(8)|pancreas(1) 11 BRCA - Breast invasive adenocarcinoma(11;0.00953) GTGAGGCTGTGATGAGGGATG 0.527000 200 24 0 0 1 0 0 LRFN3 79414 broad.mit.edu 37 19 36431570 36431570 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:36431570T>C uc002oco.3 + 1 1695 c.1243T>C c.(1243-1245)Tct>Cct p.S415P NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA. 415 cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CTCCGCTGCCTCTGCTTCTGC 0.677000 160 8 0 0 1 0 0 PLA2G2E 30814 broad.mit.edu 37 1 20246838 20246838 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:20246838G>A uc001bct.1 - 3 449 c.391C>T c.(391-393)Ccc>Tcc p.P131S NM_014589 NP_055404 Q9NZK7 PA2GE_HUMAN Homo sapiens phospholipase A2, group IIE (PLA2G2E), mRNA. 131 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) AGCTTGTTGGGATAATGGGCA 0.667000 70 10 0 0 1 0 0 SOX30 11063 broad.mit.edu 37 5 157078486 157078486 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:157078486C>T uc003lxb.1 - 0 943 c.601G>A c.(601-603)Ggc>Agc p.G201S SOX30_uc003lxc.1_Missense_Mutation_p.G201S|SOX30_uc011dds.1_Intron NM_178424 NP_848511 O94993 SOX30_HUMAN Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA. 201 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGGCTTTTGCCTGCCCCGCCT 0.662000 157 16 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21082078 21082078 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:21082078A>G uc002zsz.4 - 39 4844 c.4583T>C c.(4582-4584)gTg>gCg p.V1528A PI4KA_uc002zsy.4_Missense_Mutation_p.V338A NM_058004 NP_477352 P42356 PI4KA_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA. 1528 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TGCTTCAGGCACATCACTAAC 0.512000 108 11 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65496858 65496858 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:65496858C>T uc002aon.2 - 5 848 c.667G>A c.(667-669)Gac>Aac p.D223N NM_003613 NP_003604 O75339 CILP1_HUMAN Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA. 223 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 AGCATGAAGTCCTGGCACATG 0.597000 88 10 0 0 1 0 0 ADSL 158 broad.mit.edu 37 22 40759030 40759030 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:40759030G>A uc003ayp.4 + 9 1115 c.1056G>A c.(1054-1056)ttG>ttA p.L352L ADSL_uc003ays.4_Silent_p.L352L|ADSL_uc010gyb.1_Non-coding_Transcript NM_000026 NP_000017 P30566 PUR8_HUMAN Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA. 352 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1) 19 ATACTATATTGAATACGCTGC 0.398000 255 23 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119568089 119568089 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:119568089C>T uc004bjt.2 - 11 2166 c.2065G>A c.(2065-2067)Gag>Aag p.E689K ASTN2_uc022bml.1_Missense_Mutation_p.E385K|ASTN2_uc022bmm.1_Missense_Mutation_p.E389K NM_014010 NP_054729 O75129 ASTN2_HUMAN Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA. 740 EGF-like 2. integral to membrane p.E689D(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 AGTTTGTACTCCTCCACGCAA 0.488000 90 23 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49030999 49030999 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:49030999G>A uc001zwz.3 - 26 4773 c.4580C>T c.(4579-4581)tCt>tTt p.S1527F CEP152_uc001zwy.3_Missense_Mutation_p.S1471F NM_001194998 NP_001181927 O94986 CE152_HUMAN Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA. 1471 G2/M transition of mitotic cell cycle|centrosome duplication centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TCTTTCATTAGAATCGCGAAA 0.403000 43 6 0 0 1 0 0 TBXAS1 6916 broad.mit.edu 37 7 139717589 139717589 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:139717589C>T uc011kqv.2 + 12 1859 c.1624C>T c.(1624-1626)Cac>Tac p.H542Y TBXAS1_uc003vvh.3_Missense_Mutation_p.H496Y|TBXAS1_uc010lne.3_Missense_Mutation_p.H428Y|TBXAS1_uc003vvi.3_Missense_Mutation_p.H496Y|TBXAS1_uc011kqw.2_Missense_Mutation_p.H476Y|TBXAS1_uc003vvj.3_Intron NM_001166253 NP_001159725 P24557 THAS_HUMAN Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA. 495 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) GACACTGCTCCACGTGCTGCA 0.692000 159 16 0 0 1 0 0 IRF5 3663 broad.mit.edu 37 7 128582311 128582311 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:128582311G>A uc003voh.3 + 1 297 c.176G>A c.(175-177)gGa>gAa p.G59E IRF5_uc010llr.1_Missense_Mutation_p.G59E|IRF5_uc011kot.1_Missense_Mutation_p.G59E|IRF5_uc011kou.1_Missense_Mutation_p.G59E|IRF5_uc010lls.1_Missense_Mutation_p.G59E|IRF5_uc003vog.3_Missense_Mutation_p.G59E|IRF5_uc010llt.3_Missense_Mutation_p.G59E|IRF5_uc003voi.3_Missense_Mutation_p.G59E|IRF5_uc010llu.1_Missense_Mutation_p.G59E|IRF5_uc003vok.2_Missense_Mutation_p.G59E|IRF5_uc003voj.4_Missense_Mutation_p.G59E|IRF5_uc010llv.1_Missense_Mutation_p.G59E|IRF5_uc010llw.1_Missense_Mutation_p.G59E NM_001098630 NP_116032 Q13568 IRF5_HUMAN Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 6, mRNA. 59 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1) 15 AGCCAGGACGGAGATAACACC 0.582000 74 4 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52882264 52882264 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:52882264C>T uc001sam.3 - 6 1481 c.1272G>A c.(1270-1272)aaG>aaA p.K424K NM_005554 NP_005545 P02538 K2C6A_HUMAN Homo sapiens keratin 6A (KRT6A), mRNA. 424 Coil 2.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) CCAGCTTGTTCTTGGCATCCT 0.587000 168 10 0 0 1 0 0 AP1M2 10053 broad.mit.edu 37 19 10687887 10687887 + Missense_Mutation SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:10687887A>C uc002mpd.3 - 8 1124 c.1040T>G c.(1039-1041)aTt>aGt p.I347S AP1M2_uc002mpc.3_Missense_Mutation_p.I345S NM_005498 NP_005489 Q9Y6Q5 AP1M2_HUMAN Homo sapiens adaptor-related protein complex 1, mu 2 subunit (AP1M2), mRNA. 345 MHD. cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane protein binding endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 9 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) GAAAGACTTAATACTCCAAAT 0.582000 38 3 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24196455 24196455 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:24196455G>A uc002dmd.3 + 13 1754 c.1557G>A c.(1555-1557)ggG>ggA p.G519G PRKCB_uc002dme.3_Silent_p.G519G NM_212535 NP_997700 P05771 KPCB_HUMAN Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA. 519 Protein kinase. B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) AGCCCTATGGGAAGTCCGTGG 0.438000 113 4 0 0 1 0 0 RIC8A 60626 broad.mit.edu 37 11 209481 209481 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:209481T>A uc001lof.3 + 2 532 c.207T>A c.(205-207)agT>agA p.S69R BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Missense_Mutation_p.S69R|RIC8A_uc001loh.3_Missense_Mutation_p.S62R NM_021932 NP_068751 Q9NPQ8 RIC8A_HUMAN Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA. 69 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1) 13 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) GGCTGCAGAGTGTCCGAATCC 0.642000 154 10 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63918323 63918323 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:63918323G>A uc002amp.3 - 70 13284 c.13136C>T c.(13135-13137)cCt>cTt p.P4379L NM_003922 NP_003913 Q15751 HERC1_HUMAN Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA. 4379 protein modification process|transport Golgi apparatus|cytosol|membrane ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase 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 CACTGTGTCAGGCAGGCCCAG 0.527000 30 5 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105922 168105922 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:168105922G>A uc002udx.3 + 8 8109 c.8020G>A c.(8020-8022)Gaa>Aaa p.E2674K XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E2499K|XIRP2_uc010fpq.3_Missense_Mutation_p.E2452K|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2499 actin cytoskeleton organization cell junction actin binding p.E2674K(2)|p.C2673C(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATCAGCTTGCGAAATTAAACA 0.398000 57 4 0 0 1 0 0 C1QTNF8 390664 broad.mit.edu 37 16 1144761 1144761 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:1144761C>T uc010uuw.1 - 2 436 c.162G>A c.(160-162)agG>agA p.R54R NM_207419 NP_997302 P60827 C1QT8_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 8 (C1QTNF8), mRNA. 54 collagen lung(2)|prostate(1)|skin(1) 4 Hepatocellular(780;0.00369) GAGGCAGCCCCCTCCACAGGT 0.677000 60 9 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57347208 57347208 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:57347208G>A uc001cyo.2 + 4 687 c.555G>A c.(553-555)tgG>tgA p.W185* NM_000562 NP_000553 P07357 CO8A_HUMAN Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA. 185 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 ATGGGGAATGGAGGGAGCTTC 0.458000 83 7 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111082947 111082947 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:111082947G>A uc001vqx.3 + 9 930 c.641G>A c.(640-642)gGg>gAg p.G214E NM_001846 NP_001837 P08572 CO4A2_HUMAN Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA. 214 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGAGCTCCAGGGAGACCAGTA 0.567000 125 17 0 0 1 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6086614 6086614 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:6086614C>T uc010idb.1 - 4 1399 c.913G>A c.(913-915)Gaa>Aaa p.E305K JAKMIP1_uc010idc.1_Missense_Mutation_p.E140K|JAKMIP1_uc010idd.1_Missense_Mutation_p.E305K|JAKMIP1_uc003giu.4_Missense_Mutation_p.E305K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.E140K|JAKMIP1_uc003giv.4_Missense_Mutation_p.E305K|JAKMIP1_uc010ide.3_Missense_Mutation_p.E305K NM_001099433 NP_001092903 Q96N16 JKIP1_HUMAN Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA. 305 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TTTCTGTCTTCCAGCTTCCGT 0.443000 291 23 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4967600 4967600 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:4967600G>A uc010qys.2 - 0 731 c.731C>T c.(730-732)tCa>tTa p.S244L NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA. 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S244*(2) large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ACAGATGTGTGAAACACAAGT 0.473000 59 7 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43590049 43590049 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:43590049G>A uc003tid.1 + 26 4859 c.4254G>A c.(4252-4254)acG>acA p.T1418T HECW1_uc011kbi.1_Silent_p.T1384T NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 1418 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 ACAAGGTCACGGAAAGGGAGT 0.507000 47 5 0 0 1 0 0 PAX7 5081 broad.mit.edu 37 1 18961634 18961634 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:18961634G>A uc001bay.3 + 2 949 c.351G>A c.(349-351)aaG>aaA p.K117K PAX7_uc001baz.3_Silent_p.K117K|PAX7_uc010oct.2_Silent_p.K117K NM_002584 NP_002575 P23759 PAX7_HUMAN Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA. 117 Paired. anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2) 31 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) TAGAGAAAAAGATTGAGGAGT 0.532000 T FOXO1A alveolar rhabdomyosarcoma 128 16 0 0 1 0 0 PSMB2 5690 broad.mit.edu 37 1 36096883 36096883 + Missense_Mutation SNP G A A rs150552802 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:36096883G>A uc001bzd.2 - 2 689 c.277C>T c.(277-279)Cgg>Tgg p.R93W PSMB2_uc021olh.1_5'UTR|PSMB2_uc010ohz.2_Missense_Mutation_p.R68W|PSMB2_uc001bzf.2_Missense_Mutation_p.R93W NM_002794 NP_002785 P49721 PSB2_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, beta type, 2 (PSMB2), transcript variant 1, mRNA. 93 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|large_intestine(2) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) Bortezomib(DB00188) ACCCGACTCCGAAGACAGTCA 0.393000 77 12 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228524724 228524724 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:228524724G>A uc009xez.1 + 64 16601 c.16557G>A c.(16555-16557)aaG>aaA p.K5519K OBSCN_uc001hsn.3_Silent_p.K5519K|OBSCN_uc001hsr.1_Silent_p.K147K NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 5519 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGGCTGCCAAGGAGGCCCTCG 0.607000 17 4 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024487 55024487 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:55024487G>A uc002lgn.3 + 2 1003 c.646G>A c.(646-648)Gaa>Aaa p.E216K NM_015879 NP_056963 O43173 SIA8C_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA. 216 N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) CAGCATCCTGGAAAAATATTA 0.408000 82 10 0 0 1 0 0 CNOT4 4850 broad.mit.edu 37 7 135078814 135078815 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:135078814_135078815CC>TT uc003vsv.2 - 9 1813_1814 c.1482_1483GG>AA c.(1480-1485)caggca>caAAca p.A495T CNOT4_uc011kpy.2_Missense_Mutation_p.A495T|CNOT4_uc011kpz.2_Missense_Mutation_p.A492T|CNOT4_uc003vst.3_Missense_Mutation_p.A495T|CNOT4_uc003vss.3_Missense_Mutation_p.A492T|CNOT4_uc003vsu.2_Missense_Mutation_p.A492T NM_001190848 NP_001177777 O95628 CNOT4_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA. 495 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 TAGCGGGCTGCCTGGCCTGGAA 0.465000 55 8 0 0 1 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70954960 70954960 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:70954960T>C uc001jpe.1 + 6 925 c.870T>C c.(868-870)atT>atC p.I290I SUPV3L1_uc010qjd.1_Silent_p.I159I NM_003171 NP_003162 Q8IYB8 SUV3_HUMAN Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA. 290 Helicase ATP-binding. DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding p.V289G(1) NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TGGCTGTAATTGATGAAATTC 0.363000 38 3 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95088736 95088736 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:95088736G>A uc001ydp.3 + 3 1135 c.976G>A c.(976-978)Gac>Aac p.D326N SERPINA3_uc001ydo.4_Missense_Mutation_p.D351N|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.D326N|SERPINA3_uc001yds.3_Missense_Mutation_p.D326N NM_001085 NP_001076 P01011 AACT_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA. 326 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) TAACCTGAACGACATACTTCT 0.498000 107 8 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115229433 115229433 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:115229433G>A uc001efe.2 - 3 461 c.413C>T c.(412-414)tCa>tTa p.S138L AMPD1_uc001eff.2_Missense_Mutation_p.S134L NM_000036 NP_000027 P23109 AMPD1_HUMAN Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA. 105 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) GGTTGGAGATGAGGAAATGTA 0.453000 94 14 0 0 1 0 0 FMO2 2327 broad.mit.edu 37 1 171168519 171168519 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:171168519C>T uc001ghk.1 + 4 636 c.519C>T c.(517-519)agC>agT p.S173S FMO2_uc010pmd.1_Intron NM_001460 NP_001451 Q99518 FMO2_HUMAN Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA. 173 NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATTTCCATAGCCGCCAATACA 0.443000 65 12 0 0 1 0 0 SLC16A9 220963 broad.mit.edu 37 10 61424021 61424021 + Missense_Mutation SNP C T T rs145829924 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:61424021C>T uc010qig.1 - 3 849 c.400G>A c.(400-402)Gat>Aat p.D134N NM_194298 NP_919274 Q7RTY1 MOT9_HUMAN Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA. 134 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 CCTCGGCGATCGTCAAAATAC 0.393000 65 4 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4788845 4788845 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:4788845C>T uc010vsl.2 + 6 820 c.576C>T c.(574-576)ccC>ccT p.P192P MINK1_uc010vsk.2_Silent_p.P192P|MINK1_uc010vsm.2_Silent_p.P192P|MINK1_uc010vsn.2_Silent_p.P192P|MINK1_uc010vso.2_Silent_p.P137P|MINK1_uc010vsp.2_5'UTR NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA. 192 Protein kinase. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 TTGGGACTCCCTACTGGATGG 0.567000 146 17 0 0 1 0 0 BAI2 576 broad.mit.edu 37 1 32221940 32221940 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:32221940G>A uc001btn.3 - 3 852 c.498C>T c.(496-498)ccC>ccT p.P166P BAI2_uc010ogp.2_Silent_p.P154P|BAI2_uc010ogq.2_Silent_p.P166P|BAI2_uc001bto.3_Silent_p.P166P|BAI2_uc001btq.1_Silent_p.P154P|BAI2_uc010ogr.1_Silent_p.P154P NM_001703 NP_001694 O60241 BAI2_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA. 166 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GGGCCTCGGAGGGCTCAGCCG 0.627000 48 7 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8390569 8390569 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:8390569C>T uc001apb.3 + 3 1016 c.1016C>T c.(1015-1017)tCg>tTg p.S339L SLC45A1_uc001apc.3_Missense_Mutation_p.S37L NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA. 339 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) AGCCCCATCTCGCCGCCCAGC 0.692000 44 11 0 0 1 0 0 CARNS1 57571 broad.mit.edu 37 11 67191701 67191701 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:67191701G>A uc001olc.4 + 7 3710 c.2530G>A c.(2530-2532)Gag>Aag p.E844K CARNS1_uc010rpr.2_Missense_Mutation_p.E828K|CARNS1_uc009yrp.3_Missense_Mutation_p.E705K|CARNS1_uc021qmh.1_Missense_Mutation_p.E263K NM_020811 NP_065862 A5YM72 CRNS1_HUMAN Homo sapiens carnosine synthase 1 (CARNS1), transcript variant 2, mRNA. 705 carnosine biosynthetic process ATP binding|carnosine synthase activity|metal ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7) 11 TTGGATCCTGGAGCTCTATGG 0.627000 74 5 0 0 1 0 0 EFCAB7 84455 broad.mit.edu 37 1 64022859 64022859 + Missense_Mutation SNP T G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:64022859T>G uc001dbf.3 + 9 1583 c.1289T>G c.(1288-1290)tTt>tGt p.F430C NM_032437 NP_115813 A8K855 EFCB7_HUMAN Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA. 430 EF-hand 3. calcium ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 GAATATAATTTTTTTGAATTG 0.294000 29 3 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41513752 41513752 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:41513752T>C uc003azl.4 + 1 1051 c.656T>C c.(655-657)cTg>cCg p.L219P NM_001429 NP_001420 Q09472 EP300_HUMAN Homo sapiens E1A binding protein p300 (EP300), mRNA. 219 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GGCAACTTACTGACTGAGCCT 0.517000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 42 6 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34809826 34809826 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:34809826G>A uc010gfq.3 + 9 3137 c.2774G>A c.(2773-2775)cGa>cAa p.R925Q EPB41L1_uc002xeu.3_Missense_Mutation_p.R725Q|EPB41L1_uc002xev.3_Missense_Mutation_p.R826Q|EPB41L1_uc002xew.3_Missense_Mutation_p.R718Q|EPB41L1_uc002xex.3_Missense_Mutation_p.R647Q|EPB41L1_uc002xey.3_Missense_Mutation_p.R577Q|EPB41L1_uc002xez.3_Missense_Mutation_p.R725Q|EPB41L1_uc002xfb.3_Missense_Mutation_p.R827Q NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA. 827 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) ATCGAGAAGCGAATCATCATT 0.537000 151 11 0 0 1 0 0 RAPGEFL1 51195 broad.mit.edu 37 17 38349236 38349236 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:38349236G>A uc010cwu.1 + 12 1675 c.1185G>A c.(1183-1185)gaG>gaA p.E395E RAPGEFL1_uc010wfd.1_Silent_p.E331E NM_016339 NP_057423 Q9UHV5 RPGFL_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA. 601 G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity p.E395E(2) breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 TGAACATCGAGAAGCTGGTGA 0.517000 165 16 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47581688 47581688 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:47581688C>T uc002leb.2 - 1 376 c.88G>A c.(88-90)Gac>Aac p.D30N MYO5B_uc021ukb.1_Missense_Mutation_p.D29N NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 30 Myosin head-like. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TCTTTGTAGTCCTTGGTTAAC 0.527000 85 8 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61757561 61757561 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:61757561C>T uc003xue.3 + 21 5481 c.4989C>T c.(4987-4989)ttC>ttT p.F1663F CHD7_uc022aux.1_Intron NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA. 1663 T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent nucleus ATP binding|DNA binding|chromatin binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TCAAAAGCTTCATCTGGGATC 0.478000 182 20 0 0 1 0 0 C1RL 51279 broad.mit.edu 37 12 7252524 7252524 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:7252524C>T uc001qsn.3 - 3 682 c.589G>A c.(589-591)Gag>Aag p.E197K C1RL_uc009zft.3_Missense_Mutation_p.E197K NM_016546 NP_057630 Q9NZP8 C1RL_HUMAN Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA. 197 complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TAATAGGGCTCCTGGCAGTGG 0.612000 32 6 0 0 1 0 0 N4BP3 23138 broad.mit.edu 37 5 177547340 177547340 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:177547340C>T uc003mik.1 + 2 739 c.492C>T c.(490-492)gcC>gcT p.A164A N4BP3_uc003mil.1_5'Flank NM_015111 NP_055926 O15049 N4BP3_HUMAN Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA. 164 cytoplasmic vesicle membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) 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) GGCCCCGGGCCAGCCAGGCCC 0.701000 11 3 0 0 1 0 0 ABCA10 10349 broad.mit.edu 37 17 67188749 67188749 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:67188749G>A uc010dfa.1 - 16 2705 c.1826C>T c.(1825-1827)tCa>tTa p.S609L ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.S210L NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA. 609 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) AAACAAAGATGATCCTGCACA 0.323000 167 18 0 0 1 0 0 MSH5 4439 broad.mit.edu 37 6 31726056 31726056 + Missense_Mutation SNP C T T rs28399977 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:31726056C>T uc003nwu.2 + 12 1257 c.1129C>T c.(1129-1131)Ctc>Ttc p.L377F MSH5_uc003nwx.2_Missense_Mutation_p.L394F|MSH5_uc003nwv.2_Missense_Mutation_p.L377F|MSH5_uc003nww.2_Missense_Mutation_p.L377F|MSH5_uc011dof.1_Missense_Mutation_p.L76F|MSH5_uc003nwy.1_Missense_Mutation_p.L51F|SAPCD1_uc003nwz.4_5'Flank NM_172165 NP_751897 O43196 MSH5_HUMAN Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA. 377 L -> F (in dbSNP:rs28399977). chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|ovary(2)|skin(2) 5 TATCGCCAGCCTCATTGGGAA 0.552000 Direct reversal of damage;Mismatch excision repair (MMR) 71 4 0 0 1 0 0 HEPACAM 220296 broad.mit.edu 37 11 124805822 124805822 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:124805822C>T uc001qbk.3 - 0 487 c.81G>A c.(79-81)caG>caA p.Q27Q HEPACAM_uc001qbl.1_Silent_p.Q27Q NM_152722 NP_689935 Q14CZ8 HECAM_HUMAN Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA. 27 cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) TCCTACCTGTCTGGATCAGAA 0.582000 21 4 0 0 1 0 0 SCNN1G 6340 broad.mit.edu 37 16 23221108 23221108 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:23221108G>A uc002dlm.1 + 6 1254 c.1115G>A c.(1114-1116)tGc>tAc p.C372Y NM_001039 NP_001030 P51170 SCNNG_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA. 372 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane WW domain binding|ligand-gated sodium channel activity p.C372F(2) NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) TACAGTCAGTGCACGGAGGAC 0.602000 114 9 0 0 1 0 0 C5orf44 80006 broad.mit.edu 37 5 64957927 64957927 + Silent SNP C T T rs150042544 by1000genomes TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:64957927C>T uc003jua.4 + 10 1278 c.948C>T c.(946-948)acC>acT p.T316T C5orf44_uc003jtz.4_Silent_p.T316T|C5orf44_uc010iwv.3_Silent_p.T310T|C5orf44_uc003juc.4_Silent_p.T310T NM_001093755 NP_001087224 A5PLN9 CE044_HUMAN Homo sapiens chromosome 5 open reading frame 44 (C5orf44), transcript variant 1, mRNA. 316 kidney(4)|large_intestine(2)|lung(1)|ovary(1) 8 TACCAGATACCGTAAACCTTG 0.393000 46 3 0 0 1 0 0 MCOLN2 255231 broad.mit.edu 37 1 85403715 85403715 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:85403715G>A uc001dkm.3 - 9 1402 c.1161C>T c.(1159-1161)ctC>ctT p.L387L MCOLN2_uc001dkn.3_Non-coding_Transcript NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN Homo sapiens mucolipin 2 (MCOLN2), mRNA. 387 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) CCCAAACCAAGAGCGTAGAGG 0.403000 67 14 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156381462 156381462 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:156381462C>T uc003lwh.2 - 1 421 c.364G>A c.(364-366)Gat>Aat p.D122N TIMD4_uc010jii.2_Missense_Mutation_p.D122N NM_138379 NP_612388 Q96H15 TIMD4_HUMAN Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA. 122 Ig-like V-type. integral to membrane p.N121N(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATCTTTACATCGTTGAACCAG 0.507000 49 7 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53057081 53057081 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:53057081C>T uc010epq.1 + 4 1089 c.912C>T c.(910-912)tgC>tgT p.C304C ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN Homo sapiens zinc finger protein 808 (ZNF808), mRNA. 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) CCCTTACATGCCATCATAGAC 0.403000 176 22 0 0 1 0 0 ARIH1 25820 broad.mit.edu 37 15 72873292 72873292 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:72873292C>T uc002aut.4 + 11 1750 c.1436C>T c.(1435-1437)gCt>gTt p.A479V NM_005744 NP_005735 Q9Y4X5 ARI1_HUMAN Homo sapiens ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila) (ARIH1), mRNA. 479 ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 14 TATGTCTTCGCTTTCTACCTC 0.458000 107 11 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138552730 138552730 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:138552730G>A uc011kql.2 - 14 4969 c.4920C>T c.(4918-4920)atC>atT p.I1640I KIAA1549_uc011kqi.2_Silent_p.I424I|KIAA1549_uc011kqk.2_Silent_p.I424I|KIAA1549_uc011kqj.2_Silent_p.I1640I NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 1640 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CTGGGCATCCGATGTAGGCTG 0.627000 O BRAF pilocytic astrocytoma 51 5 0 0 1 0 0 C22orf32 91689 broad.mit.edu 37 22 42477982 42477982 + Silent SNP C T T rs143702734 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:42477982C>T uc003bca.3 + 1 318 c.240C>T c.(238-240)gtC>gtT p.V80V NM_033318 NP_201575 Q9H4I9 CV032_HUMAN Homo sapiens chromosome 22 open reading frame 32 (C22orf32), mRNA. 80 integral to membrane|mitochondrion ovary(1) 1 TTCTCTATGTCGGGACACTCA 0.488000 171 6 0 0 1 0 0 PEX16 9409 broad.mit.edu 37 11 45931683 45931683 + Missense_Mutation SNP G C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:45931683G>C uc001nbt.3 - 10 1310 c.998C>G c.(997-999)aCa>aGa p.T333R C11orf94_uc001nbs.4_5'Flank|PEX16_uc001nbu.3_3'UTR NM_057174 NP_476515 Q9Y5Y5 PEX16_HUMAN Homo sapiens peroxisomal biogenesis factor 16 (PEX16), transcript variant 2, mRNA. 0 Interaction with PEX19. ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane endoplasmic reticulum membrane|integral to peroxisomal membrane protein C-terminus binding large_intestine(2)|lung(2)|ovary(2)|skin(1) 7 GBM - Glioblastoma multiforme(35;0.223) CCAGGGCTGTGTGTGGGGCCT 0.672000 79 8 0 0 1 0 0 ZNF277 11179 broad.mit.edu 37 7 111935966 111935966 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:111935966C>T uc003vge.2 + 2 465 c.336C>T c.(334-336)atC>atT p.I112I ZNF277_uc003vgd.3_Silent_p.I112I|ZNF277_uc003vgf.2_Silent_p.I34I NM_021994 NP_068834 Q9NRM2 ZN277_HUMAN Homo sapiens zinc finger protein 277 (ZNF277), mRNA. 112 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 15 AACAGCCCATCACAGATTTTT 0.328000 101 6 0 0 1 0 0 OR5AN1 390195 broad.mit.edu 37 11 59132584 59132584 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:59132584C>T uc010rks.2 + 0 653 c.653C>T c.(652-654)tCc>tTc p.S218F NM_001004729 NP_001004729 Q8NGI8 O5AN1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA. 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 21 ATCATGATATCCTATGGCTAT 0.423000 108 7 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176709573 176709573 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:176709573C>T uc003mfr.4 + 18 6138 c.6000C>T c.(5998-6000)acC>acT p.T2000T NSD1_uc003mft.4_Silent_p.T1731T|NSD1_uc011dfx.2_Silent_p.T1648T NM_022455 NP_071900 Q96L73 NSD1_HUMAN Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA. 2000 SET. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding p.L1999>?(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) ATATGCTCACCCTAGACAAAG 0.383000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 108 6 0 0 1 0 0 ECEL1 9427 broad.mit.edu 37 2 233349582 233349582 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:233349582C>T uc002vsv.2 - 4 1193 c.988G>A c.(988-990)Gac>Aac p.D330N ECEL1_uc010fya.1_Missense_Mutation_p.D330N|ECEL1_uc010fyb.1_Missense_Mutation_p.D37N NM_004826 NP_004817 O95672 ECEL1_HUMAN Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA. 330 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) CGCCGTAGGTCGTCATGCTCT 0.617000 124 10 0 0 1 0 0 RTL1 388015 broad.mit.edu 37 14 101350809 101350809 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:101350809G>A uc010txj.1 - 0 376 c.317C>T c.(316-318)tCa>tTa p.S106L MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank NM_001134888 NP_001128360 E9PKS8 E9PKS8_HUMAN Homo sapiens retrotransposon-like 1 (RTL1), mRNA. 106 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 TGCCTGGTGTGAACCGTTGCA 0.537000 64 12 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33628294 33628294 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:33628294G>A uc001uus.3 + 1 1218 c.1210G>A c.(1210-1212)Gaa>Aaa p.E404K KL_uc001uur.1_Missense_Mutation_p.E97K NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN Homo sapiens klotho (KL), mRNA. 404 Glycosyl hydrolase-1 1. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) GATTGACCTTGAATTTAACCA 0.418000 173 22 0 0 1 0 0 MUM1L1 139221 broad.mit.edu 37 X 105449724 105449724 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:105449724G>A uc022cca.1 + 0 299 c.299G>A c.(298-300)aGa>aAa p.R100K MUM1L1_uc004emg.2_Missense_Mutation_p.R100K|MUM1L1_uc004emf.2_Missense_Mutation_p.R100K NM_001171020 NP_001164491 Q5H9M0 MUML1_HUMAN Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA. 100 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 CTGAATGAGAGAACAAATTTG 0.438000 27 3 0 0 1 0 0 ZNF391 346157 broad.mit.edu 37 6 27368423 27368423 + Missense_Mutation SNP G C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:27368423G>C uc003njf.1 + 2 792 c.274G>C c.(274-276)Gat>Cat p.D92H ZNF391_uc021ypw.1_Missense_Mutation_p.D92H NM_001076781 NP_001070249 Q9UJN7 ZN391_HUMAN Homo sapiens zinc finger protein 391 (ZNF391), mRNA. 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 AAACTCCAAAGATAATTCAGA 0.373000 58 12 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140174807 140174807 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140174807G>A uc003lhd.2 + 0 364 c.258G>A c.(256-258)gtG>gtA p.V86V PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.V86V|PCDHAC2_uc011czy.2_Silent_p.V86V NM_018905 NP_061728 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA. 101 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTGTTTGTGAATTCTCGGA 0.602000 332 28 0 0 1 0 0 ADH1C 126 broad.mit.edu 37 4 100273823 100273823 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:100273823C>T uc021xqi.1 - 0 c.95G>A NM_000669 P00326 ADH1G_HUMAN Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA. ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) ACTTTTCCTGCTGTGCTCATA 0.323000 111 5 0 0 1 0 0 TRPM5 29850 broad.mit.edu 37 11 2432591 2432591 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:2432591C>T uc010qxl.2 - 17 2782 c.2773G>A c.(2773-2775)Gag>Aag p.E925K TRPM5_uc001lwm.4_Missense_Mutation_p.E925K|TRPM5_uc009ydn.3_Missense_Mutation_p.E927K NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA. 925 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CCATCAATCTCGTCCAGTGGG 0.642000 18 4 0 0 1 0 0 GART 2618 broad.mit.edu 37 21 34889714 34889714 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:34889714G>A uc002yrz.3 - 14 2215 c.1904C>T c.(1903-1905)tCc>tTc p.S635F GART_uc002yrx.3_Missense_Mutation_p.S635F|GART_uc010gmd.3_Missense_Mutation_p.S297F|GART_uc002yry.3_Missense_Mutation_p.S635F NM_001136005 NP_001129478 P22102 PUR2_HUMAN Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA. 635 AIRS. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) GTACTGGAGGGAAGATTTTGC 0.458000 142 13 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 107199217 107199217 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:107199217C>T uc021ser.1 - 16 c.1472G>A Parts of antibodies, mostly variable regions. CCCCAGACTCCACCAGCTGCA 0.572000 247 20 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71134994 71134994 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:71134994G>A uc003tvy.3 + 7 1304 c.1304G>A c.(1303-1305)aGa>aAa p.R435K WBSCR17_uc003tvz.3_Missense_Mutation_p.R134K NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 435 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.R435R(1) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TCCGAAAGAAGAGCATTAAGG 0.463000 85 7 0 0 1 0 0 CCDC6 8030 broad.mit.edu 37 10 61552739 61552739 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:61552739G>A uc001jks.4 - 8 1593 c.1361C>T c.(1360-1362)cCc>cTc p.P454L NM_005436 NP_005427 Q16204 CCDC6_HUMAN Homo sapiens coiled-coil domain containing 6 (CCDC6), mRNA. 454 cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) GGCTGCTGAGGGGACCGTGGG 0.607000 T RET NSCLC 123 12 0 0 1 0 0 OR6C75 390323 broad.mit.edu 37 12 55759103 55759103 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:55759103C>T uc010spk.2 + 0 209 c.209C>T c.(208-210)tCa>tTa p.S70L NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA. 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 CTGGAAATTTCATTCACGTCT 0.438000 74 4 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814029 137814029 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:137814029G>A uc002tva.1 + 1 86 c.86G>A c.(85-87)gGa>gAa p.G29E THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GGTCCCGGAGGAGTCCAGAGT 0.493000 37 4 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8185535 8185536 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:8185535_8185536GG>AA uc003wsh.4 - 3 2756_2757 c.2756_2757CC>TT c.(2755-2757)tcc>tTT p.S919F NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA. 919 ATP binding|non-membrane spanning protein tyrosine kinase activity CGCTCAGCTGGGAGGATGAGGC 0.678000 51 4 0 0 1 0 0 SLC2A14 144195 broad.mit.edu 37 12 7981301 7981301 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:7981301C>T uc010sgh.2 - 5 811 c.790_splice c.e5+1 p.I264_splice SLC2A14_uc001qtk.3_Splice_Site_p.I249_splice|SLC2A14_uc001qtl.3_Splice_Site_p.I226_splice|SLC2A14_uc001qtm.3_Splice_Site_p.I226_splice|SLC2A14_uc010sgg.2_Splice_Site_p.I140_splice|SLC2A14_uc001qtn.3_Splice_Site_p.I249_splice|SLC2A14_uc001qto.3_Intron NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA. 249 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) GATACTCACTCCGCGTAGCAT 0.438000 74 7 0 0 1 0 0 DPPA5 340168 broad.mit.edu 37 6 74063911 74063911 + Missense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:74063911C>A uc003pgs.2 - 0 89 c.38G>T c.(37-39)tGg>tTg p.W13L NM_001025290 NP_001020461 A6NC42 DPPA5_HUMAN Homo sapiens developmental pluripotency associated 5 (DPPA5), mRNA. 13 multicellular organismal development cytoplasm RNA binding p.W13L(2) NS(1)|endometrium(1)|lung(5) 7 AACTTTCACCCACGGCGGGAT 0.582000 65 6 0.000274275 0.000275535 1 1 0 PCSK5 5125 broad.mit.edu 37 9 78942989 78942989 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:78942989G>A uc004akc.2 + 31 4861 c.4323G>A c.(4321-4323)ctG>ctA p.L1441L NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 674 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 AGAAAGGCCTGATCATGAACC 0.587000 344 55 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140596017 140596017 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140596017C>T uc003lja.1 + 0 2509 c.2322C>T c.(2320-2322)ttC>ttT p.F774F NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN Homo sapiens protocadherin beta 13 (PCDHB13), mRNA. 774 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCCCAACTTCCCTCCCCAGT 0.478000 108 10 0 0 1 0 0 SFRP1 6422 broad.mit.edu 37 8 41166440 41166440 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:41166440T>C uc003xnt.3 - 0 551 c.239A>G c.(238-240)aAc>aGc p.N80S NM_003012 NP_003003 Q8N474 SFRP1_HUMAN Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA. 80 FZ. DNA fragmentation involved in apoptotic nuclear change|brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of B cell differentiation|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of androgen receptor signaling pathway|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of Rac GTPase activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CTCCAGCAGGTTGGGCAGCAC 0.647000 26 3 0 0 1 0 0 SH3BP5L 80851 broad.mit.edu 37 1 249107282 249107282 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:249107282G>A uc001iew.1 - 5 1169 c.617C>T c.(616-618)gCt>gTt p.A206V SH3BP5L_uc010pzp.1_Missense_Mutation_p.A99V|SH3BP5L_uc001iev.1_Missense_Mutation_p.A87V NM_030645 NP_085148 Q7L8J4 3BP5L_HUMAN Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA. 206 endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) TTGGACCCGAGCCTCAGCCTG 0.637000 29 14 0 0 1 0 0 EPS8 2059 broad.mit.edu 37 12 15777212 15777212 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:15777212G>A uc009zif.3 - 18 2268 c.2174C>T c.(2173-2175)tCc>tTc p.S725F EPS8_uc001rdb.3_Missense_Mutation_p.S725F|EPS8_uc009zig.3_Missense_Mutation_p.S465F|EPS8_uc010shv.2_Missense_Mutation_p.S465F NM_004447 NP_004438 Q12929 EPS8_HUMAN Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA. 725 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) CTCTGGTGTGGAGTCGTAAGT 0.468000 77 7 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158484827 158484827 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:158484827C>T uc003qqx.2 + 8 1238 c.1132C>T c.(1132-1134)Cag>Tag p.Q378* SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Nonsense_Mutation_p.Q378*|SYNJ2_uc003qqy.2_Nonsense_Mutation_p.Q141*|SYNJ2_uc011efn.1_Nonsense_Mutation_p.Q306*|SYNJ2_uc010kjo.1_Nonsense_Mutation_p.Q327*|SYNJ2_uc003qqz.2_5'UTR NM_003898 NP_001171559 O15056 SYNJ2_HUMAN Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA. 378 SAC. RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CCTAAGTTTTCAGAAAGGCAC 0.488000 176 12 0 0 1 0 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316469 39316469 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:39316469G>A uc002hwc.3 - 0 515 c.475C>T c.(475-477)Cat>Tat p.H159Y NM_032524 NP_115913 Q9BYR3 KRA44_HUMAN Homo sapiens keratin associated protein 4-4 (KRTAP4-4), mRNA. 159 keratin filament kidney(1)|large_intestine(1)|lung(5) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) TGGCCACAATGGGGCCTGTAG 0.617000 117 12 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34003902 34003902 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:34003902C>T uc003oir.4 - 7 2348 c.1985G>A c.(1984-1986)gGg>gAg p.G662E GRM4_uc011dsn.2_Missense_Mutation_p.G615E|GRM4_uc010jvh.3_Missense_Mutation_p.G662E|GRM4_uc010jvi.3_Missense_Mutation_p.G354E|GRM4_uc003oio.3_Missense_Mutation_p.G354E|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.G522E|GRM4_uc003oiq.3_Missense_Mutation_p.G529E|GRM4_uc011dsm.2_Missense_Mutation_p.G493E NM_000841 NP_000832 Q14833 GRM4_HUMAN Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA. 662 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GATGCTCATCCCTAGTCCCAG 0.607000 92 7 0 0 1 0 0 KRT84 3890 broad.mit.edu 37 12 52777579 52777579 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:52777579G>A uc001sah.1 - 1 598 c.550C>T c.(550-552)Cgg>Tgg p.R184W NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN Homo sapiens keratin 84 (KRT84), mRNA. 184 Coil 1A.|Rod. R -> Q (in dbSNP:rs1613931). keratin filament structural constituent of epidermis p.R184L(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TCTAGGAACCGAACCTAAATC 0.493000 49 4 0 0 1 0 0 GLRB 2743 broad.mit.edu 37 4 158057740 158057740 + Nonsense_Mutation SNP G A A rs62636642 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:158057740G>A uc003ipj.2 + 4 619 c.417G>A c.(415-417)tgG>tgA p.W139* GLRB_uc021xtp.1_Nonsense_Mutation_p.W139*|GLRB_uc021xtq.1_Nonsense_Mutation_p.W139* NM_000824 NP_001159532 P48167 GLRB_HUMAN Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA. 139 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) AGTGTTTATGGAAACCTGATT 0.408000 64 6 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48680486 48680486 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:48680486G>A uc002irk.1 + 20 4467 c.4095G>A c.(4093-4095)atG>atA p.M1365I CACNA1G_uc002iri.1_Missense_Mutation_p.M1365I|CACNA1G_uc002irj.1_Missense_Mutation_p.M1342I|CACNA1G_uc002irl.1_Missense_Mutation_p.M1342I|CACNA1G_uc002irm.1_Missense_Mutation_p.M1342I|CACNA1G_uc002irn.1_Missense_Mutation_p.M1342I|CACNA1G_uc002iro.1_Missense_Mutation_p.M1342I|CACNA1G_uc002irp.1_Missense_Mutation_p.M1365I|CACNA1G_uc002irq.1_Missense_Mutation_p.M1342I|CACNA1G_uc002irr.1_Missense_Mutation_p.M1365I|CACNA1G_uc002irs.1_Missense_Mutation_p.M1365I|CACNA1G_uc002irt.1_Missense_Mutation_p.M1365I|CACNA1G_uc002iru.1_Missense_Mutation_p.M1342I|CACNA1G_uc002irv.1_Missense_Mutation_p.M1365I|CACNA1G_uc002irw.1_Missense_Mutation_p.M1342I|CACNA1G_uc002irx.1_Missense_Mutation_p.M1278I|CACNA1G_uc002iry.1_Missense_Mutation_p.M1278I|CACNA1G_uc002isg.1_Missense_Mutation_p.M1278I|CACNA1G_uc002ish.1_Missense_Mutation_p.M1278I|CACNA1G_uc002isi.1_Missense_Mutation_p.M1255I|CACNA1G_uc002irz.1_Missense_Mutation_p.M1278I|CACNA1G_uc002isa.1_Missense_Mutation_p.M1278I|CACNA1G_uc002isd.1_Missense_Mutation_p.M1278I|CACNA1G_uc002isb.1_Missense_Mutation_p.M1278I|CACNA1G_uc002isc.1_Missense_Mutation_p.M1278I|CACNA1G_uc002ise.1_Missense_Mutation_p.M1278I|CACNA1G_uc002isf.1_Missense_Mutation_p.M1278I|CACNA1G_uc002isj.3_Missense_Mutation_p.M89I NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 1365 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity p.S1364F(1) breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TGGTGTCCATGGTCTCTGACA 0.642000 79 7 0 0 1 0 0 OR10X1 128367 broad.mit.edu 37 1 158548961 158548961 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:158548961C>T uc010pin.2 - 0 729 c.729G>A c.(727-729)agG>agA p.R243R NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA. 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) CTGAAGGGATCCTGAGGACAG 0.453000 73 10 0 0 1 0 0 CST8 10047 broad.mit.edu 37 20 23472403 23472403 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:23472403G>A uc002wth.1 + 1 456 c.99G>A c.(97-99)agG>agA p.R33R NM_005492 NP_005483 O60676 CST8_HUMAN Homo sapiens cystatin 8 (cystatin-related epididymal specific) (CST8), mRNA. 33 extracellular region cysteine-type endopeptidase inhibitor activity p.R33G(1) breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2) 16 Colorectal(13;0.0431)|Lung NSC(19;0.235) GGGTGCTGAGGAAATTAAAAC 0.527000 135 12 0 0 1 0 0 MIA2 117153 broad.mit.edu 37 14 39716429 39716429 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:39716429T>C uc001wux.3 + 3 845 c.651T>C c.(649-651)tcT>tcC p.S217S MIA2_uc010amy.2_Silent_p.S148S NM_054024 NP_473365 Q96PC5 MIA2_HUMAN Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA. 217 extracellular region NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 31 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) TCCCACCATCTTCAGCTGTGT 0.423000 71 7 0 0 1 0 0 MYCN 4613 broad.mit.edu 37 2 16082322 16082322 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:16082322G>A uc002rci.3 + 1 436 c.136G>A c.(136-138)Ggg>Agg p.G46R MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.2_Missense_Mutation_p.G46R NM_005378 NP_005369 P04198 MYCN_HUMAN Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA. 46 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 31 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) GACCCCCCCGGGGGAGGACAT 0.652000 A neuroblastoma 46 7 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13830773 13830773 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:13830773C>T uc003jfd.2 - 35 6036 c.5994G>A c.(5992-5994)ggG>ggA p.G1998G NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1998 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CGACGTATTTCCCGAGGCATC 0.488000 Kartagener syndrome 67 5 0 0 1 0 0 GPER 2852 broad.mit.edu 37 7 1131671 1131671 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:1131671G>A uc010ksd.1 + 1 696 c.307G>A c.(307-309)Gtg>Atg p.V103M C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.V103M|GPER_uc003ska.1_Missense_Mutation_p.V103M|GPER_uc003skb.2_Missense_Mutation_p.V103M|GPER_uc021zyo.1_Missense_Mutation_p.V103M NM_001098201 NP_001091671 Q99527 GPER_HUMAN Homo sapiens G protein-coupled estrogen receptor 1 (GPER), transcript variant 4, mRNA. 103 Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 13 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16) CAACCTGGCGGTGGCGGACCT 0.577000 91 16 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123263380 123263380 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:123263380C>T uc021pzz.1 - 9 2010 c.1363G>A c.(1363-1365)Gca>Aca p.A455T FGFR2_uc021pzv.1_Missense_Mutation_p.A343T|FGFR2_uc021pzw.1_Missense_Mutation_p.A340T|FGFR2_uc021pzx.1_Missense_Mutation_p.A366T|FGFR2_uc021pzy.1_Missense_Mutation_p.A456T|FGFR2_uc010qtl.2_Missense_Mutation_p.A339T|FGFR2_uc010qtm.2_Missense_Mutation_p.A338T|FGFR2_uc021qaa.1_Missense_Mutation_p.A456T|FGFR2_uc021qab.1_Missense_Mutation_p.A367T|FGFR2_uc021qac.1_Missense_Mutation_p.A384T|FGFR2_uc001lfg.4_Missense_Mutation_p.A63T NM_000141 NP_000132 P21802 FGFR2_HUMAN Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA. 455 angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GGGGTGTCTGCCGTTGAAGAG 0.522000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 56 5 0 0 1 0 0 PRIM2 5558 broad.mit.edu 37 6 57467106 57467106 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:57467106C>T uc003pdx.3 + 11 1131 c.1044C>T c.(1042-1044)atC>atT p.I348I NM_000947 NP_000938 P49643 PRI2_HUMAN Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA. 349 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) CTTAGAACATCCGTCACAGCT 0.413000 44 4 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 103988233 103988233 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:103988233G>A uc001tjw.3 + 2 462 c.276G>A c.(274-276)agG>agA p.R92R NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 92 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 ATATTTGTAGGAAGGACTATC 0.507000 133 10 0 0 1 0 0 INTU 27152 broad.mit.edu 37 4 128632252 128632252 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:128632252G>A uc003ifk.2 + 13 2657 c.2554G>A c.(2554-2556)Gaa>Aaa p.E852K INTU_uc011cgq.2_Non-coding_Transcript NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA. 852 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 GACATTGGTGGAAGAGGTAGG 0.408000 29 4 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128484784 128484784 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:128484784G>A uc003vnz.4 + 20 3474 c.3265G>A c.(3265-3267)Ggg>Agg p.G1089R FLNC_uc003voa.4_Missense_Mutation_p.G1089R NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1089 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CGACACCAAGGGGGCTGGCAC 0.632000 64 4 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157414157 157414157 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:157414157C>T uc003wno.3 - 14 2362 c.2241G>A c.(2239-2241)aaG>aaA p.K747K PTPRN2_uc003wnp.3_Silent_p.K730K|PTPRN2_uc003wnq.3_Silent_p.K718K|PTPRN2_uc003wnr.3_Silent_p.K709K|PTPRN2_uc011kwa.2_Silent_p.K770K NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 747 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CTTCCCACTCCTTCTCCAGCC 0.627000 334 18 0 0 1 0 0 OR5M11 219487 broad.mit.edu 37 11 56310489 56310489 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:56310489G>A uc010rjl.2 - 0 245 c.245C>T c.(244-246)tCg>tTg p.S82L OR8U8_uc001nit.2_Intron NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA. 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 GATATTAGTCGACATCTGCGG 0.443000 55 6 0 0 1 0 0 GRN 2896 broad.mit.edu 37 17 42429828 42429828 + Silent SNP C T T rs63751698 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:42429828C>T uc002igp.1 + 11 1752 c.1533C>T c.(1531-1533)agC>agT p.S511S NM_002087 NP_002078 P28799 GRN_HUMAN Homo sapiens granulin (GRN), mRNA. 511 signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) TGGCCCGTAGCCCTCACGTGG 0.632000 121 10 0 0 1 0 0 SPRY3 10251 broad.mit.edu 37 X 155003537 155003537 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:155003537G>A uc022cio.1 + 0 4 c.4G>A c.(4-6)Gat>Aat p.D2N SPRY3_uc004fnq.1_Missense_Mutation_p.D2N NM_005840 NP_005831 O43610 SPY3_HUMAN Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA. 2 multicellular organismal development|regulation of signal transduction cytoplasm|membrane all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AGGCAAAATGGATGCTGCGGT 0.468000 187 17 0 0 1 0 0 OR51V1 283111 broad.mit.edu 37 11 5221123 5221124 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:5221123_5221124CC>TT uc010qyz.2 - 0 807_808 c.807_808GG>AA c.(805-810)atggtg>atAAtg p.269_270MV>IM NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA. 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAACGGTGCACCATTGTGAGGC 0.475000 32 6 0 0 1 0 0 LRP8 7804 broad.mit.edu 37 1 53728233 53728233 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:53728233G>A uc001cvi.2 - 10 1896 c.1659C>T c.(1657-1659)ttC>ttT p.F553F LRP8_uc001cvh.2_Silent_p.F106F|LRP8_uc001cvj.2_Silent_p.F553F|LRP8_uc001cvk.2_Silent_p.F383F|LRP8_uc001cvl.2_Silent_p.F424F|LRP8_uc001cvm.1_Silent_p.F138F NM_004631 NP_004622 Q14114 LRP8_HUMAN Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA. 553 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 ACCAATACATGAACCTAAAAG 0.488000 316 42 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31606681 31606681 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:31606681G>A uc002rnv.1 - 9 905 c.826C>T c.(826-828)Cct>Tct p.P276S NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 276 FAD-binding PCMH-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) ACAATCATAGGAAACAGCATA 0.493000 38 6 0 0 1 0 0 AMPD2 271 broad.mit.edu 37 1 110163659 110163659 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:110163659C>T uc009wfh.1 + 1 566 c.24C>T c.(22-24)ctC>ctT p.L8L AMPD2_uc009wfg.1_Intron|AMPD2_uc001dyb.1_Intron|AMPD2_uc001dyc.1_Silent_p.L8L|AMPD2_uc010ovr.1_5'UTR|AMPD2_uc010ovs.1_5'Flank NM_004037 NP_004028 Q01433 AMPD2_HUMAN Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA. 8 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) GCCAGGGCCTCTTCCGCCTGC 0.672000 58 10 0 0 1 0 0 TTLL2 83887 broad.mit.edu 37 6 167754833 167754833 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:167754833C>T uc003qvs.1 + 2 1533 c.1445C>T c.(1444-1446)gCt>gTt p.A482V NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA. 482 protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CGTCCTGAAGCTGCACCTGCC 0.517000 128 8 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81181834 81181834 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:81181834C>T uc002bfw.1 + 8 1247 c.987C>T c.(985-987)ttC>ttT p.F329F KIAA1199_uc010unn.1_Silent_p.F329F NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN Homo sapiens KIAA1199 (KIAA1199), mRNA. 329 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 CGGAGTGGTTCGATCATGATA 0.473000 71 5 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20345316 20345316 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:20345316C>T uc001vwh.1 + 0 890 c.890C>T c.(889-891)gCc>gTc p.A297V NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA. 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTAAAGATAGCCATGAGGAAA 0.348000 39 6 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22475890 22475890 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:22475890G>A uc001wcu.4 + 0 127 c.29G>A c.(28-30)aGg>aAg p.R10K TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc021rpn.1_Missense_Mutation_p.R10K|TCRA_uc010tmm.2_Intron|TCRA_uc001wct.4_Intron RecName: Full=T-cell receptor alpha chain V region HPB-MLT; Flags: Precursor; Fragment; AGCCTGTTGAGGGCAGTCATA 0.488000 17 4 0 0 1 0 0 TMEM176B 28959 broad.mit.edu 37 7 150493570 150493570 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:150493570C>T uc022apx.1 - 0 214 c.88G>A c.(88-90)Gag>Aag p.E30K TMEM176B_uc003whu.4_Missense_Mutation_p.E30K|TMEM176B_uc003whv.4_Missense_Mutation_p.E30K|TMEM176B_uc003whw.4_Missense_Mutation_p.E30K NM_014020 NP_054739 Q3YBM2 T176B_HUMAN Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA. 30 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAAGCTGACTCCTGGTGGATG 0.532000 69 10 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45938072 45938072 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:45938072G>A uc010gzz.3 + 10 1365 c.1218G>A c.(1216-1218)ggG>ggA p.G406G FBLN1_uc003bgg.1_Silent_p.G368G|FBLN1_uc003bgh.3_Silent_p.G368G|FBLN1_uc003bgi.1_Silent_p.G368G|FBLN1_uc003bgj.1_Silent_p.G368G NM_001996 NP_001987 P23142 FBLN1_HUMAN Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA. 368 EGF-like 6; calcium-binding.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) AGCCCTGTGGGAAGGGACATC 0.542000 254 17 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101569171 101569171 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:101569171C>T uc002bwr.3 + 19 3016 c.2697C>T c.(2695-2697)ttC>ttT p.F899F LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA. 899 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCATCAGCTTCCTCATAGAAA 0.582000 208 13 0 0 1 0 0 ADORA2A 135 broad.mit.edu 37 22 24837187 24837187 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:24837187C>T uc002zzx.3 + 4 1732 c.969C>T c.(967-969)gtC>gtT p.V323V SPECC1L_uc021wne.1_Non-coding_Transcript|ADORA2A_uc002zzy.4_Silent_p.V323V|ADORA2A_uc011ajs.2_Silent_p.V184V|C22orf45_uc002zzz.2_Intron|ADORA2A_uc010guq.3_Silent_p.V323V|ADORA2A_uc010gup.3_Silent_p.V323V|ADORA2A_uc003aab.3_Silent_p.V323V|C22orf45_uc003aad.1_Intron NM_000675 NP_000666 P29274 AA2AR_HUMAN Homo sapiens adenosine A2a receptor (ADORA2A), mRNA. 323 apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1) 21 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) GTGCCCGGGTCTTGGCAGCTC 0.642000 34 8 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152804348 152804348 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:152804348G>A uc021zhb.1 - 11 1445 c.1222C>T c.(1222-1224)Cct>Tct p.P408S SYNE1_uc003qot.4_Missense_Mutation_p.P415S|SYNE1_uc003qou.4_Missense_Mutation_p.P408S|SYNE1_uc010kjb.1_Missense_Mutation_p.P391S|SYNE1_uc003qpa.1_Missense_Mutation_p.P408S|SYNE1_uc003qox.1_5'UTR NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 408 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere 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) AGAGGTGCAGGAAGAGATTTA 0.423000 HNSCC(10;0.0054) 71 5 0 0 1 0 0 SLC2A14 144195 broad.mit.edu 37 12 7967025 7967025 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:7967025C>T uc010sgh.2 - 9 1516 c.1495G>A c.(1495-1497)Gat>Aat p.D499N SLC2A14_uc001qtk.3_Missense_Mutation_p.D484N|SLC2A14_uc001qtl.3_Missense_Mutation_p.D461N|SLC2A14_uc001qtm.3_Missense_Mutation_p.D461N|SLC2A14_uc010sgg.2_Missense_Mutation_p.D375N|SLC2A14_uc001qtn.3_Missense_Mutation_p.D484N|SLC2A14_uc001qto.3_Missense_Mutation_p.D119N NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA. 484 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) CGTGTGATATCCTCAAAAGTC 0.517000 73 5 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1808281 1808281 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:1808281G>A uc002ltw.3 - 4 690 c.456C>T c.(454-456)aaC>aaT p.N152N ATP8B3_uc002ltv.3_Silent_p.N99N|ATP8B3_uc002ltx.3_Non-coding_Transcript|ATP8B3_uc002lty.1_5'Flank|ATP8B3_uc002ltz.1_Silent_p.N99N NM_138813 NP_620168 O60423 AT8B3_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA. 152 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 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) gctcgtacaggttcagcggca 0.602000 76 8 0 0 1 0 0 FBXO11 80204 broad.mit.edu 37 2 48059943 48059943 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:48059943A>T uc002rwe.3 - 8 1191 c.1118T>A c.(1117-1119)aTt>aAt p.I373N FBXO11_uc010fbl.3_Missense_Mutation_p.I289N|FBXO11_uc002rwg.2_Missense_Mutation_p.I373N|FBXO11_uc010fbk.3_5'Flank|FBXO11_uc021vhe.1_Missense_Mutation_p.I173N NM_001190274 NP_001177203 Q86XK2 FBX11_HUMAN Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA. 373 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GTGATCAATAATAGGGCTACA 0.333000 """Mis, F, D""" DLBCL 184 7 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34542851 34542851 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:34542851G>A uc001zhw.3 - 10 1736 c.1572C>T c.(1570-1572)atC>atT p.I524I SLC12A6_uc001zhv.3_Silent_p.I473I|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.I509I|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.I465I|SLC12A6_uc001zib.3_Silent_p.I515I|SLC12A6_uc001zic.3_Silent_p.I524I|SLC12A6_uc010bau.3_Silent_p.I524I|SLC12A6_uc001zid.3_Silent_p.I465I|SLC12A6_uc001zht.3_5'Flank|SLC12A6_uc001zhu.3_Silent_p.I336I NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA. 524 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) AGGTGGTCAGGATGGCAAGGA 0.413000 75 6 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13776635 13776635 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:13776635G>A uc003jfd.2 - 54 9328 c.9286C>T c.(9286-9288)Cga>Tga p.R3096* NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3096 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCTCTGTTTCGAAATTTCTCC 0.483000 Kartagener syndrome 59 6 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98188432 98188432 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:98188432C>T uc001kml.2 - 4 835 c.594G>A c.(592-594)agG>agA p.R198R TLL2_uc009xvf.2_Silent_p.R146R NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN Homo sapiens tolloid-like 2 (TLL2), mRNA. 198 Metalloprotease (By similarity). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CCTCATCCGTCCTTTCTATGA 0.498000 61 4 0 0 1 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94335415 94335415 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:94335415G>A uc001dqf.3 - 6 2321 c.2263C>T c.(2263-2265)Cgc>Tgc p.R755C DNTTIP2_uc010otm.2_Non-coding_Transcript NM_014597 NP_055412 Q5QJE6 TDIF2_HUMAN Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 2 (DNTTIP2), mRNA. 755 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) TCTTAATTGCGAAATTTCTTC 0.323000 12 4 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20522961 20522961 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:20522961G>A uc001reh.2 + 0 783 c.743G>A c.(742-744)gGg>gAg p.G248E NM_000921 NP_000912 Q14432 PDE3A_HUMAN Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA. 248 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GGCGTGCTGGGGATCCTCTTG 0.607000 57 5 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8146321 8146321 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:8146321G>A uc002mjf.3 - 56 7274 c.7257C>T c.(7255-7257)ctC>ctT p.L2419L FBN3_uc002mje.3_Silent_p.L258L NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 2419 EGF-like 39; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TGTTTTTGCAGAGGAAGGTAC 0.582000 112 6 0 0 1 0 0 OR10A6 390093 broad.mit.edu 37 11 7949864 7949864 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:7949864C>T uc010rbh.2 - 0 346 c.346G>A c.(346-348)Gga>Aga p.G116R NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA. 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCCATTGCTCCCAGAAGAAAA 0.368000 74 7 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241715278 241715278 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:241715278C>T uc010fzk.3 - 10 1195 c.948G>A c.(946-948)cgG>cgA p.R316R KIF1A_uc002vzy.3_Silent_p.R316R|KIF1A_uc002vzz.2_Silent_p.R316R NM_001244008 NP_001230937 Q12756 KIF1A_HUMAN Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA. 316 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CCAGGTTTTCCCGGAGGAGCC 0.572000 66 4 0 0 1 0 0 HEATR3 55027 broad.mit.edu 37 16 50106595 50106595 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:50106595C>T uc002efw.3 + 4 754 c.592C>T c.(592-594)Cct>Tct p.P198S HEATR3_uc021thv.1_Missense_Mutation_p.P112S|HEATR3_uc002efx.3_Missense_Mutation_p.P112S NM_182922 NP_891552 Q7Z4Q2 HEAT3_HUMAN Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA. 198 binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 AAGTAGGTTTCCTACCAATGT 0.348000 96 11 0 0 1 0 0 APOL3 80833 broad.mit.edu 37 22 36541577 36541577 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:36541577G>A uc003aot.3 - 1 332 c.294C>T c.(292-294)atC>atT p.I98I APOL3_uc003aoq.3_Silent_p.I27I|APOL3_uc003aor.3_Silent_p.I27I|APOL3_uc003aos.3_Silent_p.I27I|APOL3_uc003aou.3_5'UTR|APOL3_uc003aov.3_5'UTR NM_145640 NP_663617 O95236 APOL3_HUMAN Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA. 98 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity endometrium(2)|large_intestine(1)|lung(1)|stomach(1) 5 TAGTCAGCAGGATTTGCAGAT 0.512000 75 18 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516442 140516442 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140516442G>A uc003liq.3 + 0 1643 c.1426G>A c.(1426-1428)Gac>Aac p.D476N NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. 476 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGCGCCACAGACAGAGACTC 0.637000 264 22 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701903 56701903 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:56701903C>T uc010ygh.2 - 3 781 c.781G>A c.(781-783)Gcc>Acc p.A261T NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA. 261 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R260I(1) breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TCCACAGAGGCTCTTTTCTGG 0.493000 98 11 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72346310 72346310 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:72346310C>T uc002llw.2 + 0 3388 c.3335C>T c.(3334-3336)tCa>tTa p.S1112L ZNF407_uc010xfc.2_Missense_Mutation_p.S1112L|ZNF407_uc010dqu.2_Missense_Mutation_p.S1112L|ZNF407_uc002llu.2_Missense_Mutation_p.S1111L NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA. 1112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CAAATAATTTCAGGTCAACCA 0.353000 18 3 0 0 1 0 0 IL9 3578 broad.mit.edu 37 5 135231462 135231462 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:135231462G>A uc003lbb.1 - 0 55 c.44C>T c.(43-45)tCc>tTc p.S15F NM_000590 NP_000581 P15248 IL9_HUMAN Homo sapiens interleukin 9 (IL9), mRNA. 15 immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process extracellular space cytokine activity|cytokine receptor binding|growth factor activity large_intestine(3)|lung(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCCTGCCACGGAGCACAGGAG 0.567000 72 4 0 0 1 0 0 SEPT8 23176 broad.mit.edu 37 5 132096504 132096504 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:132096504C>T uc003kxr.2 - 8 1514 c.1276G>A c.(1276-1278)Gac>Aac p.D426N SEPT8_uc003kxs.1_Missense_Mutation_p.D426N|SEPT8_uc003kxu.2_Missense_Mutation_p.D426N|SEPT8_uc011cxi.1_Missense_Mutation_p.D424N|SEPT8_uc003kxv.2_Missense_Mutation_p.D424N|SEPT8_uc003kxt.2_Missense_Mutation_p.D366N NM_001098811 NP_001092281 Q92599 SEPT8_HUMAN Homo sapiens septin 8 (SEPT8), transcript variant 1, mRNA. 426 cell cycle septin complex GTP binding|protein binding SEPT8/AFF4(2) kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTCTTCTTGTCCTTGTCCTTC 0.632000 90 4 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55530938 55530938 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:55530938G>A uc002ehz.4 + 9 1884 c.1573G>A c.(1573-1575)Gag>Aag p.E525K MMP2_uc010vhd.2_Missense_Mutation_p.E449K|MMP2_uc010ccc.3_Missense_Mutation_p.E475K NM_004530 NP_004521 P08253 MMP2_HUMAN Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA. 525 Hemopexin-like 2.|Required for inhibitor TIMP2 binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) TGCGGTATACGAGGCCCCACA 0.612000 120 11 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57257848 57257848 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:57257848G>A uc001cym.4 - 1 1044 c.638C>T c.(637-639)cCc>cTc p.P213L C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.P213L NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 213 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TACAAAAGAGGGATCTTCAGA 0.502000 63 6 0 0 1 0 0 BIN1 274 broad.mit.edu 37 2 127808401 127808401 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:127808401G>A uc002tns.2 - 16 1933 c.1549C>T c.(1549-1551)Ctg>Ttg p.L517L BIN1_uc010yzf.2_Silent_p.L309L|BIN1_uc002tnt.2_Silent_p.L333L|BIN1_uc010yzg.2_Silent_p.L394L|BIN1_uc002tnu.2_Silent_p.L348L|BIN1_uc002tnv.2_Silent_p.L474L|BIN1_uc002tnw.2_Silent_p.L421L|BIN1_uc002tnx.2_Silent_p.L378L|BIN1_uc002tny.2_Silent_p.L430L|BIN1_uc002tnz.2_Silent_p.L442L|BIN1_uc002toa.2_Silent_p.L406L|BIN1_uc002tob.2_Silent_p.L363L|BIN1_uc002toc.2_Silent_p.L399L NM_139343 NP_647593 O00499 BIN1_HUMAN Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA. 517 cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) CCTGGGGGCAGGTCCAAGCGC 0.637000 OREG0014962 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 131 20 0 0 1 0 0 TTLL4 9654 broad.mit.edu 37 2 219603768 219603768 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:219603768C>T uc002viy.3 + 2 1739 c.1369C>T c.(1369-1371)Cct>Tct p.P457S TTLL4_uc010zkl.1_Missense_Mutation_p.P292S|TTLL4_uc010fvx.3_Missense_Mutation_p.P457S NM_014640 NP_055455 Q14679 TTLL4_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA. 457 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TCCCCCTTTTCCTCAAACTCT 0.567000 45 4 0 0 1 0 0 SEMA3A 10371 broad.mit.edu 37 7 83689803 83689803 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:83689803C>T uc003uhz.3 - 4 840 c.525G>A c.(523-525)ctG>ctA p.L175L NM_006080 NP_006071 Q14563 SEM3A_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA. 175 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 ATGCTGTCAGCAGCTTAGGGT 0.353000 245 29 0 0 1 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378624 31378624 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:31378624G>A uc003tch.3 - 1 612 c.259C>T c.(259-261)Ctg>Ttg p.L87L NEUROD6_uc022abi.1_Silent_p.L87L NM_022728 NP_073565 Q96NK8 NDF6_HUMAN Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA. 87 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 TCCAATCGCAGCTTTGTTGTC 0.488000 225 22 0 0 1 0 0 ACR 49 broad.mit.edu 37 22 51183265 51183265 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:51183265C>T uc003bnh.4 + 4 908 c.896C>T c.(895-897)tCg>tTg p.S299L NM_001097 NP_001088 P10323 ACRO_HUMAN Homo sapiens acrosin (ACR), mRNA. 299 acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) ATGATTCAATCGGCCACCCCT 0.602000 24 5 0 0 1 0 0 CEP97 79598 broad.mit.edu 37 3 101476690 101476690 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:101476690C>T uc003dvk.1 + 8 1267 c.1240C>T c.(1240-1242)Cca>Tca p.P414S CEP97_uc010hpm.1_Missense_Mutation_p.P380S|CEP97_uc011bhf.1_Missense_Mutation_p.P355S|CEP97_uc003dvl.1_Missense_Mutation_p.P110S|CEP97_uc003dvm.1_Missense_Mutation_p.P252S NM_024548 NP_078824 Q8IW35 CEP97_HUMAN Homo sapiens centrosomal protein 97kDa (CEP97), mRNA. 414 CEP110 binding. centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 AGGACTGTCTCCACTATCACC 0.473000 77 4 0 0 1 0 0 KRT72 140807 broad.mit.edu 37 12 52992707 52992707 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:52992707C>T uc001sar.2 - 1 702 c.616G>A c.(616-618)Gat>Aat p.D206N KRT72_uc001saq.2_Missense_Mutation_p.D206N|KRT72_uc010sns.1_Missense_Mutation_p.D206N|KRT72_uc010snt.1_Missense_Mutation_p.D18N NM_001146225 NP_542785 Q14CN4 K2C72_HUMAN Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA. 206 Coil 1B.|Rod. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) TCCACCAAATCCTGCATGTTC 0.517000 303 18 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155327536 155327536 + Missense_Mutation SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:155327536A>C uc009wqq.3 - 13 7295 c.6815T>G c.(6814-6816)cTt>cGt p.L2272R ASH1L_uc001fkt.3_Missense_Mutation_p.L2267R NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA. 2272 Post-SET. DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|chromosome|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ACACTTACAAAGTTGCTTTGA 0.428000 34 8 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29040878 29040878 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:29040878A>G uc002kws.3 + 6 876 c.767A>G c.(766-768)aAa>aGa p.K256R NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 256 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGTAATATTAAAGTGAAAGAT 0.343000 39 8 0 0 1 0 0 MYLK4 340156 broad.mit.edu 37 6 2678502 2678502 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:2678502G>A uc003mty.4 - 9 1289 c.992C>T c.(991-993)tCg>tTg p.S331L MYLK4_uc003mtx.4_Missense_Mutation_p.S46L NM_001012418 NP_001012418 Q86YV6 MYLK4_HUMAN Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA. 331 Protein kinase. ATP binding|protein serine/threonine kinase activity p.S331S(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) GGCCTCCTCCGAGATGTCCTG 0.517000 166 38 0 0 1 0 0 SMTNL1 219537 broad.mit.edu 37 11 57313818 57313818 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:57313818G>A uc021qjh.1 + 4 1188 c.1186G>A c.(1186-1188)Gag>Aag p.E396K NM_001105565 NP_001099035 E9PPJ3 E9PPJ3_HUMAN Homo sapiens smoothelin-like 1 (SMTNL1), mRNA. 396 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 AAAAAAATACGAGGTGGGCAT 0.622000 15 3 0 0 1 0 0 SALL2 6297 broad.mit.edu 37 14 21993042 21993042 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:21993042A>G uc001wbe.3 - 1 1102 c.820T>C c.(820-822)Ttc>Ctc p.F274L SALL2_uc010tly.2_Missense_Mutation_p.F272L|SALL2_uc010tlz.1_Missense_Mutation_p.F137L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.F139L|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA. 274 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) AGGTGGAAGAAGGCCTGCTTG 0.602000 43 3 0 0 1 0 0 CDK14 5218 broad.mit.edu 37 7 90741917 90741917 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:90741917G>A uc003uky.2 + 12 1437 c.1215G>A c.(1213-1215)aaG>aaA p.K405K CDK14_uc003ukz.1_Silent_p.K387K|CDK14_uc010les.1_Silent_p.K359K|CDK14_uc011khl.1_Silent_p.K276K NM_012395 NP_036527 O94921 CDK14_HUMAN Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA. 405 Protein kinase. G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 GTTCCCCAAAGAACAGACTGT 0.502000 75 10 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23522420 23522420 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:23522420G>A uc003jgo.3 + 6 698 c.516G>A c.(514-516)agG>agA p.R172R NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 172 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TAGAACTCAGGAAGAAGGAGA 0.428000 HNSCC(3;0.000094) 127 20 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86124594 86124594 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:86124594G>A uc002blv.1 + 6 3465 c.3295G>A c.(3295-3297)Ggt>Agt p.G1099S AKAP13_uc002blt.1_Missense_Mutation_p.G1099S|AKAP13_uc002blu.1_Missense_Mutation_p.G1099S|AKAP13_uc010bne.1_5'Flank NM_007200 NP_009131 Q12802 AKP13_HUMAN Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA. 1099 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 TGCTCTACAAGGTATGGCTGA 0.468000 68 8 0 0 1 0 0 MLIP 90523 broad.mit.edu 37 6 53986345 53986345 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:53986345T>A uc011dxa.2 + 1 230 c.197T>A c.(196-198)tTc>tAc p.F66Y MLIP_uc003pcf.2_Missense_Mutation_p.F55Y|MLIP_uc003pcg.4_Missense_Mutation_p.F55Y|MLIP_uc003pch.4_Intron|MLIP_uc011dwz.1_Intron NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA. 55 PML body|nuclear envelope protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 ACCTCTAAATTCCTTGTTAAA 0.363000 96 7 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143806950 143806950 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:143806950C>T uc011ktz.2 + 0 275 c.275C>T c.(274-276)tCc>tTc p.S92F NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA. 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) AGAACCATCTCCTTTGTTCCA 0.423000 116 14 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40440154 40440154 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:40440154G>A uc003gvc.2 - 3 1467 c.757C>T c.(757-759)Ctc>Ttc p.L253F RBM47_uc003gvd.2_Missense_Mutation_p.L253F|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.L215F|RBM47_uc003gvg.1_Missense_Mutation_p.L253F NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA. 253 RRM 3. nucleus RNA binding|nucleotide binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 TCGATCATGAGGTTGCGCACG 0.612000 156 8 0 0 1 0 0 ESYT3 83850 broad.mit.edu 37 3 138183326 138183326 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:138183326A>G uc003esk.3 + 8 1281 c.1055A>G c.(1054-1056)aAc>aGc p.N352S ESYT3_uc010hug.2_Non-coding_Transcript NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA. 352 C2 1. integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 ATCTACAGGAACCTGAACCCC 0.562000 81 6 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1965396 1965396 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:1965396C>T uc021qsx.1 - 21 2240 c.2009_splice c.e21-1 p.G670_splice CACNA2D4_uc009zds.2_Splice_Site|CACNA2D4_uc009zdt.1_Splice_Site_p.G534_splice|CACNA2D4_uc009zdr.2_5'Flank NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA. 670 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TCATGCAGGCCTGAAACCAGA 0.507000 268 23 0 0 1 0 0 OR10A2 341276 broad.mit.edu 37 11 6891746 6891746 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:6891746C>T uc001meu.1 + 0 761 c.761C>T c.(760-762)tCa>tTa p.S254L NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA. 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCAAATAATTCACCTGAGGGC 0.413000 205 16 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27206697 27206697 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:27206697G>A uc011lno.2 + 13 2795 c.2353G>A c.(2353-2355)Gat>Aat p.D785N TEK_uc003zqi.4_Missense_Mutation_p.D828N|TEK_uc011lnp.2_Missense_Mutation_p.D680N|TEK_uc003zqj.1_Missense_Mutation_p.D762N NM_000459 NP_000450 Q02763 TIE2_HUMAN Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA. 828 angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) CAAATTTCAAGATGTGATTGG 0.458000 42 6 0 0 1 0 0 AKR1B10 57016 broad.mit.edu 37 7 134216769 134216769 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:134216769G>A uc003vrr.3 + 2 664 c.344G>A c.(343-345)gGa>gAa p.G115E NM_020299 NP_064695 O60218 AK1BA_HUMAN Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA. 115 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 TGGCCACAGGGATTCAAGGTT 0.507000 142 12 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14802994 14802994 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:14802994G>A uc003byy.3 + 14 2819 c.2367G>A c.(2365-2367)ggG>ggA p.G789G C3orf20_uc003byz.3_Silent_p.G667G|C3orf20_uc003bza.3_Silent_p.G667G|C3orf20_uc003bzb.1_Silent_p.G290G|C3orf20_uc011avj.2_Silent_p.G116G NM_032137 NP_001171887 Q8ND61 CC020_HUMAN Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA. 789 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 TTGCCGGGGGGAAGCTCATTT 0.483000 62 6 0 0 1 0 0 ACADL 33 broad.mit.edu 37 2 211082789 211082789 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:211082789C>T uc002vdz.4 - 2 499 c.271G>A c.(271-273)Gaa>Aaa p.E91K ACADL_uc010zjg.1_Missense_Mutation_p.E91K NM_001608 NP_001599 P28330 ACADL_HUMAN Homo sapiens acyl-CoA dehydrogenase, long chain (ACADL), nuclear gene encoding mitochondrial protein, mRNA. 91 carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial matrix long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 Renal(323;0.202) Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621) CCAGCTTTTTCCCAAACCTCC 0.393000 55 4 0 0 1 0 0 ELOVL4 6785 broad.mit.edu 37 6 80626373 80626373 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:80626373C>T uc003pja.4 - 5 1216 c.897G>A c.(895-897)atG>atA p.M299I ELOVL4_uc011dyt.2_Non-coding_Transcript NM_022726 NP_073563 Q9GZR5 ELOV4_HUMAN Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA. 299 M -> V (in dbSNP:rs3812153). fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) CATTTTCTATCATGAGTTGTT 0.363000 46 5 0 0 1 0 0 MYO1G 64005 broad.mit.edu 37 7 45010657 45010657 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:45010657C>T uc003tmh.2 - 8 991 c.847_splice c.e8-1 p.G283_splice MYO1G_uc003tmg.2_Splice_Site_p.G45_splice|MYO1G_uc010kym.2_Splice_Site_p.G168_splice|MYO1G_uc003tmi.1_Splice_Site_p.G195_splice|MYO1G_uc022acj.1_5'Flank|MYO1G_uc003tmj.2_Splice_Site_p.G45_splice NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN Homo sapiens myosin IG (MYO1G), mRNA. 283 Myosin head-like. myosin complex|plasma membrane ATP binding|actin binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 CTCGATGTTTCCCTGGTGATG 0.582000 31 5 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4839027 4839027 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:4839027G>A uc003snj.1 - 14 3383 c.3210C>T c.(3208-3210)ttC>ttT p.F1070F RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_Silent_p.F575F|RADIL_uc011jwc.1_Silent_p.F830F|RADIL_uc011jwd.1_Non-coding_Transcript|RADIL_uc003snh.1_Silent_p.F366F NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Homo sapiens Ras association and DIL domains (RADIL), mRNA. 1070 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GGGGCGTGCGGAAATGGATCT 0.632000 103 15 0 0 1 0 0 TEKT5 146279 broad.mit.edu 37 16 10788311 10788311 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:10788311G>A uc002czz.1 - 0 492 c.420C>T c.(418-420)aaC>aaT p.N140N NM_144674 NP_653275 Q96M29 TEKT5_HUMAN Homo sapiens tektin 5 (TEKT5), mRNA. 140 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 TCTGGCCCAGGTTCCGGCAGG 0.607000 203 19 0 0 1 0 0 RGNEF 64283 broad.mit.edu 37 5 73072345 73072345 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:73072345C>T uc010izf.3 + 5 840 c.664C>T c.(664-666)Cag>Tag p.Q222* RGNEF_uc011csq.2_Nonsense_Mutation_p.Q222*|RGNEF_uc003kcy.1_Nonsense_Mutation_p.Q222*|RGNEF_uc021yam.1_Nonsense_Mutation_p.Q222* NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA. 222 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) TTTCAGTTTTCAGGGCAGATG 0.512000 34 3 0 0 1 0 0 TRBV9 28586 broad.mit.edu 37 7 142239564 142239564 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142239564C>T uc011ksd.2 - 1 327 c.316G>A c.(316-318)Gct>Act p.A106T TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TRBV9_uc022ann.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; AAATACAAAGCTGAGTCCCCC 0.517000 107 6 0 0 1 0 0 DSCR4 10281 broad.mit.edu 37 21 39493345 39493345 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:39493345G>A uc002ywp.3 - 0 110 c.5C>T c.(4-6)tCg>tTg p.S2L DSCR8_uc002ywt.4_5'Flank|DSCR8_uc010gnp.3_5'Flank|DSCR8_uc010gnq.3_5'Flank|DSCR8_uc010gnr.3_5'Flank|DSCR8_uc010gns.3_5'Flank NM_005867 NP_005858 P56555 DSCR4_HUMAN Homo sapiens Down syndrome critical region gene 4 (DSCR4), mRNA. 2 large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 6 gatgattaacgacatggacac 0.493000 41 5 0 0 1 0 0 AP3D1 8943 broad.mit.edu 37 19 2151282 2151282 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:2151282G>A uc002lva.3 - 0 275 c.52C>T c.(52-54)Ctg>Ttg p.L18L AP3D1_uc002luy.3_Silent_p.L18L|AP3D1_uc002luz.3_Silent_p.L18L NM_003938 NP_003929 O14617 AP3D1_HUMAN Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA. 18 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport Golgi membrane|endosome membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 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) AAGTCCTGCAGATTCTTGTCG 0.701000 52 12 0 0 1 0 0 FOXK2 3607 broad.mit.edu 37 17 80543889 80543889 + Silent SNP C T T rs148172805 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:80543889C>T uc002kfn.3 + 6 1560 c.1389C>T c.(1387-1389)tcC>tcT p.S463S FOXK2_uc002kfm.1_Silent_p.S463S|FOXK2_uc010diu.3_Intron NM_004514 NP_004505 Q01167 FOXK2_HUMAN Homo sapiens forkhead box K2 (FOXK2), mRNA. 463 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion 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 NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) CCTCGACCTCCCAGCCACCCG 0.627000 69 9 0 0 1 0 0 TMEM176B 28959 broad.mit.edu 37 7 150493513 150493513 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:150493513G>A uc022apx.1 - 0 271 c.145C>T c.(145-147)Cac>Tac p.H49Y TMEM176B_uc003whu.4_Missense_Mutation_p.H49Y|TMEM176B_uc003whv.4_Missense_Mutation_p.H49Y|TMEM176B_uc003whw.4_Missense_Mutation_p.H49Y NM_014020 NP_054739 Q3YBM2 T176B_HUMAN Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA. 49 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCCCCAGGGTGAAAAAGAAAC 0.562000 83 6 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117113480 117113480 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:117113480G>A uc003pxj.1 - 5 2628 c.2606C>T c.(2605-2607)gCt>gTt p.A869V GPRC6A_uc003pxk.1_Missense_Mutation_p.A694V|GPRC6A_uc003pxl.1_Missense_Mutation_p.A798V NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 869 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) GTCCAGTGAAGCAGGACTCAG 0.453000 57 3 0 0 1 0 0 SLC22A16 85413 broad.mit.edu 37 6 110763562 110763562 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:110763562C>T uc003puf.3 - 3 1135 c.1068G>A c.(1066-1068)acG>acA p.T356T SLC22A16_uc003pue.3_Silent_p.T337T NM_033125 NP_149116 Q86VW1 S22AG_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA. 356 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity p.T356K(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) GTGTCCTTTTCGTAATGCTCC 0.393000 115 14 0 0 1 0 0 C1orf158 93190 broad.mit.edu 37 1 12815748 12815748 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:12815748G>A uc001auh.3 + 1 426 c.210G>A c.(208-210)ggG>ggA p.G70G C1orf158_uc010obe.1_Silent_p.G70G NM_152290 NP_689503 Q8N1D5 CA158_HUMAN Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA. 70 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GGTGGTATGGGAAGAGGAAAG 0.522000 35 6 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432378 104432378 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:104432378C>T uc004bbp.2 - 2 2917 c.2316G>A c.(2314-2316)aaG>aaA p.K772K GRIN3A_uc004bbq.1_Silent_p.K772K NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 772 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CTTCATAGATCTTCTCACCTA 0.393000 61 4 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33559749 33559749 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:33559749C>T uc001rll.1 - 2 1349 c.1052G>A c.(1051-1053)tGg>tAg p.W351* SYT10_uc009zju.1_Nonsense_Mutation_p.W161* NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 351 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) AATATCTTTCCATACTGTGGC 0.338000 57 6 0 0 1 0 0 BTF3P11 690 broad.mit.edu 37 13 77502732 77502732 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:77502732C>T uc001vkb.4 + 0 c.148C>T Homo sapiens basic transcription factor 3 pseudogene 11 (BTF3P11), non-coding RNA. GTTCAGGCATCGCTGGCAGCA 0.443000 39 7 0 0 1 0 0 SNORD114-31 767612 broad.mit.edu 37 14 101459645 101459645 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:101459645C>T uc001yjv.3 + 1 c.74_splice c.e1+1 Homo sapiens small nucleolar RNA, C/D box 114-31 (SNORD114-31), small nucleolar RNA. CTCTGAGGTTCAATATAATAG 0.393000 49 12 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31325667 31325667 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:31325667C>T uc010dmg.1 + 11 5910 c.5855C>T c.(5854-5856)tCc>tTc p.S1952F ASXL3_uc002kxq.2_Missense_Mutation_p.S1659F NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1952 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CAGGCCTCTTCCAAGACCCCA 0.532000 64 7 0 0 1 0 0 CHST13 166012 broad.mit.edu 37 3 126255181 126255181 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:126255181C>T uc003eja.3 + 1 210 c.165C>T c.(163-165)ctC>ctT p.L55L NM_152889 NP_690849 Q8NET6 CHSTD_HUMAN Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 13 (CHST13), mRNA. 55 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(114;0.151) TGCAGAAGCTCTATGACCTGG 0.602000 83 4 0 0 1 0 0 SCYL2 55681 broad.mit.edu 37 12 100711595 100711595 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:100711595C>T uc001thn.3 + 9 1337 c.1287C>T c.(1285-1287)ttC>ttT p.F429F SCYL2_uc009ztw.1_Silent_p.F256F|SCYL2_uc001thm.1_Silent_p.F429F NM_017988 NP_060458 Q6P3W7 SCYL2_HUMAN Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA. 429 endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 TGTTAATTTTCCTACAAAAAA 0.333000 31 5 0 0 1 0 0 OR56A5 390084 broad.mit.edu 37 11 5989424 5989424 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:5989424A>T uc010qzu.2 - 0 301 c.301T>A c.(301-303)Ttc>Atc p.F101I NM_001146033 NP_001139505 P0C7T3 O56A5_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA. 101 integral to membrane|plasma membrane olfactory receptor activity ACCTGAAGGAAGCAGGCAGGG 0.527000 56 4 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3081376 3081376 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:3081376C>T uc022aqr.1 - 27 4749 c.4359G>A c.(4357-4359)ggG>ggA p.G1453G CSMD1_uc011kwj.2_Silent_p.G846G|CSMD1_uc003wqe.3_Silent_p.G610G NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1454 CUB 9. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCGTCAGATTCCCTCCACAAG 0.502000 19 3 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146471453 146471453 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:146471453C>T uc003weu.2 + 1 704 c.188C>T c.(187-189)gCc>gTc p.A63V NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 63 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCCGGCTATGCCAAGATAAAC 0.368000 HNSCC(39;0.1) 47 6 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 124978440 124978440 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:124978440G>A uc003yqw.3 + 4 500 c.294G>A c.(292-294)gaG>gaA p.E98E NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 98 C2 1. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TGGTGGGTGAGAACATTGACC 0.498000 27 4 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31598248 31598248 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:31598248C>T uc002rnv.1 - 14 1679 c.1600G>A c.(1600-1602)Gac>Aac p.D534N NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 534 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CCACTCACGTCTTCCAGGTTC 0.542000 168 11 0 0 1 0 0 KLK9 284366 broad.mit.edu 37 19 51509906 51509906 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:51509906C>T uc002pux.1 - 2 361 c.274G>A c.(274-276)Gac>Aac p.D92N KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Missense_Mutation_p.D63N|KLK8_uc002puv.1_5'Flank NM_012315 NP_036447 Q9UKQ9 KLK9_HUMAN Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA. 92 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 all_neural(266;0.0652) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) GGGAAGAAGTCCGTAACCCGG 0.602000 57 13 0 0 1 0 0 SRRT 51593 broad.mit.edu 37 7 100482918 100482918 + Missense_Mutation SNP G A A rs150582291 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:100482918G>A uc003uwy.2 + 9 1511 c.1244G>A c.(1243-1245)cGg>cAg p.R415Q SRRT_uc010lhl.1_Missense_Mutation_p.R414Q|SRRT_uc003uxa.2_Missense_Mutation_p.R414Q|SRRT_uc003uwz.2_Missense_Mutation_p.R415Q NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA. 415 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 TGCAAGCCGCGGCCGCTGCAT 0.632000 73 12 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9051441 9051441 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:9051441G>A uc001mhi.2 - 17 2397 c.2322C>T c.(2320-2322)acC>acT p.T774T SCUBE2_uc021qdk.1_Silent_p.T250T|SCUBE2_uc001mhj.2_Silent_p.T676T NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA. 802 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) TTTTACACTGGGTTATGTTTG 0.483000 191 14 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48416468 48416468 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:48416468G>A uc001jfa.1 - 0 386 c.226C>T c.(226-228)Cct>Tct p.P76S NM_016204 NP_057288 Q9UK05 GDF2_HUMAN Homo sapiens growth differentiation factor 2 (GDF2), mRNA. 76 BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity p.V75V(1) breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 TCCTGCGAAGGGACCCCACTC 0.557000 90 6 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49071670 49071670 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:49071670G>A uc004dnb.3 - 28 3568 c.3506C>T c.(3505-3507)cCa>cTa p.P1169L CACNA1F_uc010nip.3_Missense_Mutation_p.P1158L NM_005183 NP_005174 O60840 CAC1F_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA. 1169 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) ACGGCGGAGTGGCTGGGCCTT 0.577000 23 6 0 0 1 0 0 IL36B 27177 broad.mit.edu 37 2 113786566 113786566 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:113786566G>A uc002tiq.1 - 3 315 c.211C>T c.(211-213)Ctc>Ttc p.L71F IL36B_uc002tir.1_Missense_Mutation_p.L71F NM_014438 NP_055253 Q9NZH7 IL36B_HUMAN Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA. 71 immune response extracellular space cytokine activity|interleukin-1 receptor binding p.L71V(1) kidney(1)|ovary(1)|pancreas(1) 3 AAGAGACAGAGATCTTTTCCC 0.418000 71 5 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1499825 1499825 + Missense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:1499825C>A uc002qwr.3 + 11 2157 c.2071C>A c.(2071-2073)Ctg>Atg p.L691M TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.L691M|TPO_uc002qwx.3_Missense_Mutation_p.L634M|TPO_uc002qwu.3_Missense_Mutation_p.L634M|TPO_uc010yio.2_Missense_Mutation_p.L518M|TPO_uc010yip.2_Missense_Mutation_p.L691M|TPO_uc002qwy.1_Missense_Mutation_p.L31M|TPO_uc002qwz.3_Intron NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 691 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity p.S690S(1) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GAAGCACTCCCTGTCTCGGGT 0.552000 43 5 2.7689e-08 2.79588e-08 1 1 0 SI 6476 broad.mit.edu 37 3 164776837 164776837 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:164776837C>T uc003fei.3 - 11 1375 c.1312G>A c.(1312-1314)Gga>Aga p.G438R NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 438 Isomaltase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TATGTTGTTCCATTGGCACGT 0.358000 HNSCC(35;0.089) 26 3 0 0 1 0 0 PIK3CD 5293 broad.mit.edu 37 1 9776047 9776047 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:9776047C>T uc001aqe.4 + 3 719 c.511C>T c.(511-513)Ctg>Ttg p.L171L PIK3CD_uc001aqb.4_Silent_p.L171L|PIK3CD_uc010oaf.2_Silent_p.L171L|PIK3CD_uc021ogb.1_5'UTR NM_005026 NP_005017 O00329 PK3CD_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA. 171 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) CCCCCTGCAGCTGGAGCCCTC 0.667000 23 4 0 0 1 0 0 SV2C 22987 broad.mit.edu 37 5 75597323 75597323 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:75597323G>A uc003kei.1 + 11 2087 c.1953G>A c.(1951-1953)tgG>tgA p.W651* NM_014979 NP_055794 Q496J9 SV2C_HUMAN Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA. 651 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TCTCAGCCTGGAACTCTCTTG 0.507000 189 24 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146276180 146276180 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:146276180G>A uc003qlf.3 - 1 678 c.279C>T c.(277-279)tcC>tcT p.S93S SHPRH_uc003qle.3_Silent_p.S93S|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Intron NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA. 93 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CAGACAAAGGGGAAAAAATAC 0.368000 91 4 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117093864 117093864 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:117093864G>A uc001lcg.3 + 18 3496 c.3110G>A c.(3109-3111)gGa>gAa p.G1037E ATRNL1_uc010qsm.2_Intron|ATRNL1_uc010qsn.2_Intron NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN Homo sapiens attractin-like 1 (ATRNL1), mRNA. 1037 Laminin EGF-like 1. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CTCACCACAGGAAAGCAGTGT 0.373000 53 9 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186670982 186670982 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:186670982G>A uc002upl.3 + 16 17216 c.17216G>A c.(17215-17217)cGa>cAa p.R5739Q FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 ATAAGAATTCGAACATCAAGC 0.378000 16 3 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229773938 229773938 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:229773938C>T uc001hts.1 + 3 3714 c.3578C>T c.(3577-3579)cCc>cTc p.P1193L URB2_uc009xfd.1_Missense_Mutation_p.P1193L NM_014777 NP_055592 Q14146 URB2_HUMAN Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA. 1193 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 GAACTGCATCCCAAAAAGGAC 0.448000 128 11 0 0 1 0 0 OR2S2 56656 broad.mit.edu 37 9 35957934 35957934 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:35957934G>A uc011lpi.2 - 0 218 c.162C>T c.(160-162)tcC>tcT p.S54S NM_019897 NP_063950 Q9NQN1 OR2S1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA. 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L54L(1)|p.F53>?(1) central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194) TGTGCAGGCGGGAGTCAAGGA 0.547000 82 8 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128388791 128388791 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:128388791C>T uc003qbk.3 - 11 2397 c.2030G>A c.(2029-2031)gGa>gAa p.G677E PTPRK_uc010kfc.3_Missense_Mutation_p.G677E|PTPRK_uc003qbj.3_Missense_Mutation_p.G677E|PTPRK_uc011ebu.2_Missense_Mutation_p.G677E|PTPRK_uc003qbl.1_Missense_Mutation_p.G547E|PTPRK_uc011ebv.1_Missense_Mutation_p.G677E NM_002844 NP_002835 Q15262 PTPRK_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA. 677 Fibronectin type-III 4. cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) AGGTAGGTTTCCCGGGGGGAG 0.542000 75 6 0 0 1 0 0 ZNF167 55888 broad.mit.edu 37 3 44598665 44598665 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:44598665C>T uc003cnj.3 + 1 542 c.126C>T c.(124-126)ctC>ctT p.L42L ZNF167_uc003cnk.3_Silent_p.L42L|ZNF167_uc003cnh.3_Non-coding_Transcript|ZNF167_uc010hin.3_Silent_p.L42L|ZNF167_uc003cni.3_Silent_p.L42L|ZNF167_uc010hio.3_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA. 42 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) GCAGCAGTCTCCAGAAGAACT 0.577000 67 14 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6187317 6187317 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:6187317G>A uc002mef.1 + 11 1791 c.1564G>A c.(1564-1566)Gaa>Aaa p.E522K ACSBG2_uc002mee.1_Missense_Mutation_p.E335K|ACSBG2_uc002meg.1_Missense_Mutation_p.E522K|ACSBG2_uc002meh.1_Missense_Mutation_p.E522K|ACSBG2_uc002mei.1_Missense_Mutation_p.E472K|ACSBG2_uc010xiz.1_Missense_Mutation_p.E522K NM_030924 NP_112186 Q5FVE4 ACBG2_HUMAN Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA. 522 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGCTGGTGGTGAAAATGTGCC 0.483000 134 12 0 0 1 0 0 STRA6 64220 broad.mit.edu 37 15 74473679 74473679 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:74473679C>T uc002axj.3 - 16 2118 c.1758G>A c.(1756-1758)atG>atA p.M586I STRA6_uc002axi.3_Missense_Mutation_p.M356I|STRA6_uc010ulh.2_Missense_Mutation_p.M585I|STRA6_uc002axk.3_Missense_Mutation_p.M547I|STRA6_uc002axl.3_Missense_Mutation_p.M479I|STRA6_uc010bji.3_Missense_Mutation_p.M547I|STRA6_uc021sqg.1_Missense_Mutation_p.M562I|STRA6_uc002axm.3_Missense_Mutation_p.M547I|STRA6_uc002axn.3_Missense_Mutation_p.M538I|STRA6_uc010uli.2_Missense_Mutation_p.M584I NM_001199042 NP_001185971 Q9BX79 STRA6_HUMAN Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA. 547 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 GGCTGAGGTCCATCTGGCCAA 0.632000 53 5 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654470 46654470 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:46654470C>T uc003bhh.3 - 0 4750 c.4750G>A c.(4750-4752)Gtt>Att p.V1584I NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA. 1584 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GTAGCAAAAACCAAAAACCAT 0.423000 88 10 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20150030 20150030 + Silent SNP C T T rs150673228 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:20150030C>T uc002wru.3 + 12 1425 c.1311C>T c.(1309-1311)ttC>ttT p.F437F C20orf26_uc010zse.2_Silent_p.F417F|C20orf26_uc010zsf.1_Silent_p.F437F NM_015585 NP_056400 Q8NHU2 CT026_HUMAN Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA. 437 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) TCCAGAACTTCGTGAAAATGG 0.488000 87 5 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1893202 1893202 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:1893202C>T uc002qxe.3 - 15 3158 c.2331G>A c.(2329-2331)atG>atA p.M777I MYT1L_uc002qxd.3_Missense_Mutation_p.M775I|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 777 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCTGCTTGTTCATGCTGAGGT 0.597000 81 11 0 0 1 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23059356 23059356 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:23059356G>A uc003xda.3 - 3 700 c.594C>T c.(592-594)gaC>gaT p.D198D NM_003844 NP_003835 O00220 TR10A_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA. 198 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) CAGCAGAATTGTCATTCCGGA 0.512000 76 8 0 0 1 0 0 MRPL21 219927 broad.mit.edu 37 11 68671265 68671265 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:68671265G>A uc010rqe.1 - 0 39 c.14C>T c.(13-15)tCc>tTc p.S5F IGHMBP2_uc001ooj.1_5'Flank|IGHMBP2_uc001ook.1_5'Flank|MRPL21_uc001ooh.3_5'UTR|MRPL21_uc001ooi.3_Missense_Mutation_p.S5F NM_181514 NP_852615 Q7Z2W9 RM21_HUMAN Homo sapiens mitochondrial ribosomal protein L21 (MRPL21), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA. 5 translation mitochondrion|ribosome RNA binding|structural constituent of ribosome large_intestine(1)|lung(6)|prostate(1) 8 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GACCGTCAGGGAAGATGCTGC 0.677000 128 17 0 0 1 0 0 KRTAP12-4 386684 broad.mit.edu 37 21 46074273 46074273 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:46074273G>A uc002zfs.1 - 0 304 c.259C>T c.(259-261)Cca>Tca p.P87S TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198698 NP_941971 P60329 KR124_HUMAN Homo sapiens keratin associated protein 12-4 (KRTAP12-4), mRNA. 87 15 X 5 AA approximate repeats. keratin filament lung(4)|ovary(1)|prostate(1) 6 CCAGAGGTTGGGCAGAAGGAA 0.642000 69 4 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167288875 167288875 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:167288875C>T uc002udu.2 - 14 2675 c.2545G>A c.(2545-2547)Gat>Aat p.D849N SCN7A_uc010fpm.2_Non-coding_Transcript NM_002976 NP_002967 Q01118 SCN7A_HUMAN Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA. 849 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TCCTTATTATCCAGATTTTCT 0.378000 46 3 0 0 1 0 0 FGF6 2251 broad.mit.edu 37 12 4543502 4543502 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:4543502T>A uc001qmr.1 - 2 550 c.506A>T c.(505-507)aAt>aTt p.N169I NM_020996 NP_066276 P10767 FGF6_HUMAN Homo sapiens fibroblast growth factor 6 (FGF6), mRNA. 169 angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space growth factor activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) CTCGTAGGCATTGTAATTGTT 0.512000 186 16 0 0 1 0 0 LMBRD2 92255 broad.mit.edu 37 5 36116684 36116684 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:36116684G>A uc003jkb.1 - 10 1729 c.1314C>T c.(1312-1314)ttC>ttT p.F438F NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA. 438 integral to membrane p.C437R(1) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGATGGAAAGGAAGCAGGCAA 0.338000 40 3 0 0 1 0 0 OR2A1 346528 broad.mit.edu 37 7 143929691 143929691 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:143929691C>T uc011kub.2 - 0 246 c.246G>A c.(244-246)gcG>gcA p.A82A NM_001005287 NP_001005287 Q8NGT9 OR2A1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA. 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(3)|skin(2) 6 Melanoma(164;0.14) GCAGGAGGTTCGCCAGCATCT 0.572000 77 8 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139361533 139361533 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:139361533G>A uc004chx.3 - 5 4114 c.3805C>T c.(3805-3807)Cca>Tca p.P1269S SEC16A_uc004chv.4_Missense_Mutation_p.P659S|SEC16A_uc004chw.3_Missense_Mutation_p.P1269S|SEC16A_uc010nbn.3_Missense_Mutation_p.P1269S NM_014866 NP_055681 O15027 SC16A_HUMAN Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA. 1091 protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CAGTGACCTGGATCTGTGAGC 0.473000 55 14 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98602800 98602800 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:98602800C>T uc003upp.3 + 67 10749 c.10540C>T c.(10540-10542)Cgg>Tgg p.R3514W TRRAP_uc011kis.2_Missense_Mutation_p.R3485W|TRRAP_uc003upr.3_Missense_Mutation_p.R3220W NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 3514 histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CACCGCAGCCCGGCGGCTGTA 0.587000 156 23 0 0 1 0 0 BIN1 274 broad.mit.edu 37 2 127821182 127821182 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:127821182C>T uc002tns.2 - 8 1123 c.739G>A c.(739-741)Ggc>Agc p.G247S BIN1_uc010yzf.2_Missense_Mutation_p.G192S|BIN1_uc002tnt.2_Missense_Mutation_p.G216S|BIN1_uc010yzg.2_Missense_Mutation_p.G247S|BIN1_uc002tnu.2_Missense_Mutation_p.G216S|BIN1_uc002tnv.2_Missense_Mutation_p.G247S|BIN1_uc002tnw.2_Missense_Mutation_p.G216S|BIN1_uc002tnx.2_Missense_Mutation_p.G216S|BIN1_uc002tny.2_Missense_Mutation_p.G247S|BIN1_uc002tnz.2_Missense_Mutation_p.G216S|BIN1_uc002toa.2_Missense_Mutation_p.G216S|BIN1_uc002tob.2_Missense_Mutation_p.G216S|BIN1_uc002toc.2_Missense_Mutation_p.G216S NM_139343 NP_647593 O00499 BIN1_HUMAN Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA. 247 BAR. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) TCCTCCAGGCCCGCGATGCTC 0.612000 35 4 0 0 1 0 0 KCNJ6 3763 broad.mit.edu 37 21 39086776 39086776 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:39086776C>T uc011aej.1 - 2 737 c.684G>A c.(682-684)agG>agA p.R228R KCNJ6_uc002ywo.2_Silent_p.R228R NM_002240 NP_002231 P48051 IRK6_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA. 228 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) TGTGGGAATTCCTAAGGTCCC 0.532000 75 7 0 0 1 0 0 GPR171 29909 broad.mit.edu 37 3 150916441 150916441 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:150916441G>A uc003eyq.4 - 2 973 c.733C>T c.(733-735)Ccg>Tcg p.P245S MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Missense_Mutation_p.P245S NM_013308 NP_037440 O14626 GP171_HUMAN Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA. 245 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 15 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGGGTATACGGGATTCGGACA 0.438000 95 11 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2716264 2716264 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:2716264C>T uc009zdu.1 + 26 3697 c.3384C>T c.(3382-3384)ctC>ctT p.L1128L CACNA1C_uc001qkc.2_Silent_p.L1108L|CACNA1C_uc001qjz.2_Silent_p.L1108L|CACNA1C_uc001qkd.2_Silent_p.L1108L|CACNA1C_uc001qke.2_Silent_p.L1108L|CACNA1C_uc001qkf.2_Silent_p.L1108L|CACNA1C_uc009zdw.1_Silent_p.L1108L|CACNA1C_uc001qkg.2_Silent_p.L1108L|CACNA1C_uc001qkh.2_Silent_p.L1108L|CACNA1C_uc001qkl.2_Silent_p.L1128L|CACNA1C_uc001qkj.2_Silent_p.L1108L|CACNA1C_uc001qkk.2_Silent_p.L1108L|CACNA1C_uc001qkn.2_Silent_p.L1108L|CACNA1C_uc001qkm.2_Silent_p.L1108L|CACNA1C_uc001qko.2_Silent_p.L1128L|CACNA1C_uc001qkp.2_Silent_p.L1108L|CACNA1C_uc001qkq.2_Silent_p.L1108L|CACNA1C_uc001qku.2_Silent_p.L1108L|CACNA1C_uc001qkr.2_Silent_p.L1108L|CACNA1C_uc001qks.2_Silent_p.L1108L|CACNA1C_uc001qkt.2_Silent_p.L1108L|CACNA1C_uc009zdv.1_Silent_p.L1105L|CACNA1C_uc001qkb.2_Silent_p.L1108L|CACNA1C_uc001qka.1_Silent_p.L643L|CACNA1C_uc001qki.1_Silent_p.L844L NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 1128 Dihydropyridine binding (By similarity). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGATGGCCCTCTTCACCGTCT 0.562000 31 4 0 0 1 0 0 PGM2 55276 broad.mit.edu 37 4 37846083 37846083 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:37846083T>C uc011byb.1 + 6 891 c.818T>C c.(817-819)gTt>gCt p.V273A PGM2_uc011bya.1_Missense_Mutation_p.V134A|PGM2_uc011byc.1_Missense_Mutation_p.V113A NM_018290 NP_060760 Q96G03 PGM2_HUMAN Homo sapiens phosphoglucomutase 2 (PGM2), mRNA. 273 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 TTTGACCTTGTTCCTCCTGAG 0.498000 125 9 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616858 77616858 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:77616858C>T uc003yau.2 + 1 922 c.535C>T c.(535-537)Cag>Tag p.Q179* ZFHX4_uc003yat.1_Nonsense_Mutation_p.Q179*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.Q179* NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 179 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAAGAGTGATCAGTCTGCTTC 0.488000 HNSCC(33;0.089) 27 3 0 0 1 0 0 ANKRD20A2 441430 broad.mit.edu 37 2 95497751 95497751 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:95497751C>T uc010fhp.3 - 7 c.796_splice c.e7+1 Q5SQ80 A20A2_HUMAN Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA. large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 4 ACGGTTCTCACCTTCTCCTTG 0.488000 147 6 0 0 1 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40652922 40652922 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:40652922C>T uc002hzs.3 + 15 2065 c.1898C>T c.(1897-1899)tCa>tTa p.S633L ATP6V0A1_uc002hzr.3_Missense_Mutation_p.S626L|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.S626L|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.S583L|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.S583L|ATP6V0A1_uc010cyg.3_Missense_Mutation_p.S272L|ATP6V0A1_uc010wgl.2_Missense_Mutation_p.S485L NM_001130020 NP_001123492 Q93050 VPP1_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA. 626 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) TCTGGTTATTCAATGTTGTAT 0.433000 148 14 0 0 1 0 0 ABCA10 10349 broad.mit.edu 37 17 67189323 67189323 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:67189323G>A uc010dfa.1 - 15 2587 c.1708C>T c.(1708-1710)Ctg>Ttg p.L570L ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Silent_p.L171L NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA. 570 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) TGCTCCTTCAGGAGGCTCCAC 0.458000 82 4 0 0 1 0 0 DSCC1 79075 broad.mit.edu 37 8 120865425 120865425 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:120865425T>C uc003yov.3 - 1 348 c.213A>G c.(211-213)caA>caG p.Q71Q NM_024094 NP_076999 Q9BVC3 DCC1_HUMAN Homo sapiens defective in sister chromatid cohesion 1 homolog (S. cerevisiae) (DSCC1), mRNA. 71 DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication chromatin|chromosome, centromeric region|nucleoplasm DNA binding|protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1) 9 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ACAGCACAGCTTGCTCGTCTT 0.388000 93 6 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134993770 134993770 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:134993770G>A uc004ezh.3 + 17 2346 c.2179G>A c.(2179-2181)Gag>Aag p.E727K SAGE1_uc010nry.1_Missense_Mutation_p.E696K|SAGE1_uc011mvv.2_Missense_Mutation_p.E351K NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN Homo sapiens sarcoma antigen 1 (SAGE1), mRNA. 727 p.E727*(2) breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) CCAGGAGGAGGAGATGGAAAA 0.428000 77 10 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119427755 119427755 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:119427755C>T uc001ehl.1 - 7 1406 c.1091G>A c.(1090-1092)gGg>gAg p.G364E TBX15_uc009whj.1_Missense_Mutation_p.G188E NM_152380 NP_689593 Q96SF7 TBX15_HUMAN Homo sapiens T-box 15 (TBX15), mRNA. 470 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) GGGAAAGGACCCCAGCTGGCC 0.572000 40 3 0 0 1 0 0 SLC7A7 9056 broad.mit.edu 37 14 23282371 23282371 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:23282371C>T uc001wgr.4 - 1 375 c.237G>A c.(235-237)ggG>ggA p.G79G SLC7A7_uc001wgs.4_Silent_p.G79G|SLC7A7_uc001wgt.4_Silent_p.G79G|SLC7A7_uc001wgu.4_Silent_p.G79G|SLC7A7_uc001wgv.4_Silent_p.G79G NM_001126106 NP_001119578 Q9UM01 YLAT1_HUMAN Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA. 79 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity p.V78V(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) AGAAGAGGCCCCCGACAGCCC 0.552000 120 12 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141750067 141750067 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141750067G>A uc003vwy.3 + 22 2674 c.2620G>A c.(2620-2622)Gag>Aag p.E874K NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 874 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TCTTTTATGTGAGTTTTCTGT 0.403000 117 7 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42211043 42211043 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:42211043G>A uc003ose.2 - 14 3425 c.2862C>T c.(2860-2862)atC>atT p.I954I TRERF1_uc011duq.1_Silent_p.I851I|TRERF1_uc003osb.2_Silent_p.I690I|TRERF1_uc003osc.2_Silent_p.I690I|TRERF1_uc003osd.2_Silent_p.I934I NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 934 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCAGCCGCATGATCTTTTTCC 0.552000 182 7 0 0 1 0 0 AQP9 366 broad.mit.edu 37 15 58465363 58465363 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:58465363G>A uc002aez.2 + 2 692 c.335G>A c.(334-336)gGa>gAa p.G112E ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.G47E NM_020980 NP_066190 O43315 AQP9_HUMAN Homo sapiens aquaporin 9 (AQP9), mRNA. 112 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) CAGTTCTTGGGAGCCTTTGTG 0.473000 137 7 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 55999633 55999633 + Missense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:55999633C>A uc010rjc.2 - 0 1029 c.1029G>T c.(1027-1029)atG>atT p.M343I NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA. 343 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) TTTTCCCAAACATTTTTTTCA 0.318000 53 6 0.0293803 0.0294552 1 1 0 PXDN 7837 broad.mit.edu 37 2 1667458 1667458 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:1667458C>T uc002qxa.3 - 11 1550 c.1486G>A c.(1486-1488)Gac>Aac p.D496N PXDN_uc002qxb.1_Missense_Mutation_p.D496N NM_012293 NP_036425 Q92626 PXDN_HUMAN Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA. 496 Ig-like C2-type 3. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity p.H495H(1) breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TGGCCCTGGTCGTGGAGGGCA 0.622000 144 16 0 0 1 0 0 CRIM1 51232 broad.mit.edu 37 2 36704154 36704154 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:36704154G>A uc002rpd.3 + 5 1180 c.1114G>A c.(1114-1116)Ggt>Agt p.G372S NM_016441 NP_057525 Q9NZV1 CRIM1_HUMAN Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA. 372 VWFC 1. nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) CGCCCAGTGTGGTGAGATAAA 0.483000 88 21 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95035923 95035923 + Silent SNP G A A rs139990252 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:95035923G>A uc010avd.3 + 4 1660 c.1386G>A c.(1384-1386)acG>acA p.T462T SERPINA4_uc001ydk.3_Silent_p.T425T|SERPINA4_uc001ydl.3_Silent_p.T425T NM_006215 NP_006206 P29622 KAIN_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA. 425 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity p.T425T(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) TCGACCCCACGAAACCATAGC 0.577000 62 8 0 0 1 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891505 2891505 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:2891505G>A uc002kln.3 + 3 1539 c.1380G>A c.(1378-1380)acG>acA p.T460T NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA. 460 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) TCAATGTGACGGAGAAGAACG 0.448000 150 23 0 0 1 0 0 SULT1C4 27233 broad.mit.edu 37 2 108999909 108999909 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:108999909G>A uc002tea.1 + 4 931 c.558G>A c.(556-558)tgG>tgA p.W186* SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Nonsense_Mutation_p.W111* NM_006588 NP_006579 O75897 ST1C4_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA. 186 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 TGAAAGGATGGTGGGAAGCCA 0.473000 73 5 0 0 1 0 0 SSX2IP 117178 broad.mit.edu 37 1 85135491 85135491 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:85135491A>G uc001dki.3 - 4 625 c.299T>C c.(298-300)cTa>cCa p.L100P SSX2IP_uc001dkf.3_Missense_Mutation_p.L73P|SSX2IP_uc001dkh.3_Missense_Mutation_p.L100P|SSX2IP_uc010orz.2_Missense_Mutation_p.L73P|SSX2IP_uc001dkg.3_Non-coding_Transcript|SSX2IP_uc010osa.2_Missense_Mutation_p.L73P|SSX2IP_uc001dkj.3_Missense_Mutation_p.L100P|SSX2IP_uc009wci.3_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.L96P NM_014021 NP_001159767 Q9Y2D8 ADIP_HUMAN Homo sapiens synovial sarcoma, X breakpoint 2 interacting protein (SSX2IP), transcript variant 5, mRNA. 100 cell adhesion nucleus|protein complex endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) CATACAATTTAGTACAGCTAC 0.378000 56 13 0 0 1 0 0 ATF6B 1388 broad.mit.edu 37 6 32083616 32083616 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:32083616G>A uc003nzn.3 - 17 2045 c.2012C>T c.(2011-2013)tCc>tTc p.S671F TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Intron|ATF6B_uc003nzo.3_Missense_Mutation_p.S668F NM_004381 NP_004372 Q99941 ATF6B_HUMAN Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA. 671 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 TGGGGTTGGGGATGGCTGTTT 0.602000 72 6 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34091493 34091493 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:34091493C>T uc011kap.2 + 8 1071 c.697C>T c.(697-699)Ctc>Ttc p.L233F NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN Homo sapiens BMP binding endothelial regulator (BMPER), mRNA. 233 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 AGTGTTTGACCTCCCTTTTGG 0.458000 74 8 0 0 1 0 0 ITGA10 8515 broad.mit.edu 37 1 145535820 145535820 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:145535820G>A uc001eoa.3 + 15 2084 c.2008G>A c.(2008-2010)Ggc>Agc p.G670S ITGA10_uc010oyv.2_Missense_Mutation_p.G539S|ITGA10_uc009wiw.3_Missense_Mutation_p.G527S|ITGA10_uc010oyw.2_Missense_Mutation_p.G615S NM_003637 NP_003628 O75578 ITA10_HUMAN Homo sapiens integrin, alpha 10 (ITGA10), mRNA. 670 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity p.R669Q(1) NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TAGGCGGCGAGGCCAAGAGGC 0.577000 83 9 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115489885 115489885 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:115489885C>T uc001efr.3 + 26 2475 c.2266C>T c.(2266-2268)Ctc>Ttc p.L756F SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.L756F|SYCP1_uc009wgw.3_Intron NM_003176 NP_003167 Q15431 SYCP1_HUMAN Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA. 756 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTATCCAATCTCAAAGCTGA 0.318000 57 10 0 0 1 0 0 ING5 84289 broad.mit.edu 37 2 242644105 242644105 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:242644105C>T uc002wcd.3 + 1 100 c.75C>T c.(73-75)ttC>ttT p.F25F ING5_uc021vzk.1_Silent_p.F25F NM_032329 NP_115705 Q8WYH8 ING5_HUMAN Homo sapiens inhibitor of growth family, member 5 (ING5), mRNA. 25 DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding large_intestine(1)|lung(1)|skin(1) 3 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) AGAGGAACTTCCAGCTGATGC 0.512000 152 16 0 0 1 0 0 DEPDC4 120863 broad.mit.edu 37 12 100660857 100660858 + Splice_Site DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:100660857_100660858CC>TT uc009ztv.1 - 1 1 c.-2_splice c.e1-1 SCYL2_uc009ztw.1_5'Flank|SCYL2_uc001thm.1_5'Flank|SCYL2_uc001thn.3_5'Flank|DEPDC4_uc001thh.1_Splice_Site|DEPDC4_uc001thi.3_Splice_Site|DEPDC4_uc001thj.1_Splice_Site|DEPDC4_uc001thk.1_Splice_Site|DEPDC4_uc001thl.1_Splice_Site NM_152317 NP_689530 Q8N2C3 DEPD4_HUMAN Homo sapiens DEP domain containing 4 (DEPDC4), mRNA. intracellular signal transduction NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1) 15 GGCACCATAGCCCCGCCCCACC 0.644000 88 6 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43936104 43936104 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:43936104C>T uc003bdy.2 - 27 4096 c.3782G>A c.(3781-3783)gGg>gAg p.G1261E EFCAB6_uc003bdz.2_Missense_Mutation_p.G1109E|EFCAB6_uc010gzi.2_Missense_Mutation_p.G1109E|EFCAB6_uc010gzj.1_3'UTR NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 1261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GACACTGCTCCCTCTCTGGGC 0.617000 98 8 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67800233 67800233 + Missense_Mutation SNP A C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:67800233A>C uc001vik.3 - 1 3032 c.2340T>G c.(2338-2340)aaT>aaG p.N780K PCDH9_uc001vil.3_Missense_Mutation_p.N780K|PCDH9_uc010thl.2_Missense_Mutation_p.N780K|PCDH9_uc001vin.3_Missense_Mutation_p.N780K NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA. 780 Cadherin 7. 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) TATAGGAGGCATTTCCAGCAG 0.458000 99 5 0 0 1 0 0 TRIM40 135644 broad.mit.edu 37 6 30105123 30105123 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:30105123G>A uc003npk.2 + 1 696 c.310G>A c.(310-312)Gaa>Aaa p.E104K TRIM40_uc003npm.2_Missense_Mutation_p.E104K NM_138700 NP_619645 Q6P9F5 TRI40_HUMAN Homo sapiens tripartite motif containing 40 (TRIM40), mRNA. 104 intracellular zinc ion binding ovary(1) 1 GTCTCATCATGAACTGACCAT 0.552000 129 9 0 0 1 0 0 OXGR1 27199 broad.mit.edu 37 13 97639498 97639498 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:97639498G>A uc001vmx.1 - 3 760 c.516C>T c.(514-516)atC>atT p.I172I OXGR1_uc010afr.1_Silent_p.I172I|OXGR1_uc021rlr.1_Silent_p.I172I NM_080818 NP_543008 Q96P68 OXGR1_HUMAN Homo sapiens oxoglutarate (alpha-ketoglutarate) receptor 1 (OXGR1), mRNA. 172 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) TGGTTGATGTGATCAAGAAGG 0.453000 101 10 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16860664 16860664 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:16860664C>T uc002neu.4 + 5 1633 c.1211C>T c.(1210-1212)gCc>gTc p.A404V NWD1_uc002net.4_Missense_Mutation_p.A269V|NWD1_uc002nev.4_Missense_Mutation_p.A198V|NWD1_uc021uqg.1_Missense_Mutation_p.A269V NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 404 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TTGCCCCCTGCCCAGGTTCTG 0.602000 97 8 0 0 1 0 0 TMEM110-MUSTN1 100526772 broad.mit.edu 37 3 52878872 52878872 + Silent SNP G A A rs147704393 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:52878872G>A uc003dgc.4 - 4 644 c.513C>T c.(511-513)atC>atT p.I171I TMEM110-MUSTN1_uc003dgb.4_5'Flank|TMEM110-MUSTN1_uc003dgd.3_Silent_p.I171I NM_001198974 NP_001185903 Homo sapiens TMEM110-MUSTN1 readthrough (TMEM110-MUSTN1), mRNA. TTAGGAGGACGATGAAGACGA 0.537000 105 9 0 0 1 0 0 VPS45 11311 broad.mit.edu 37 1 150044289 150044289 + Silent SNP C T T rs140400945 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:150044289C>T uc001etp.3 + 2 858 c.285C>T c.(283-285)ttC>ttT p.F95F VPS45_uc010pbp.1_Non-coding_Transcript|VPS45_uc010pbq.2_Silent_p.F59F|VPS45_uc010pbs.2_Silent_p.F59F|VPS45_uc009wlm.1_Silent_p.F95F|VPS45_uc010pbr.1_Silent_p.F59F NM_007259 NP_009190 Q9NRW7 VPS45_HUMAN Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA. 95 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis Golgi membrane|endosome membrane|integral to membrane of membrane fraction p.F95F(2) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CTATATATTTCATTTGTAAGT 0.333000 78 7 0 0 1 0 0 KIAA1804 84451 broad.mit.edu 37 1 233514958 233514958 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:233514958G>A uc001hvt.4 + 8 2467 c.2206G>A c.(2206-2208)Gga>Aga p.G736R KIAA1804_uc001hvu.4_Missense_Mutation_p.G182R NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA. 736 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4) 52 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) GGTGGCTCTGGGACTGGACCT 0.527000 79 7 0 0 1 0 0 C22orf23 84645 broad.mit.edu 37 22 38349106 38349106 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:38349106C>T uc003auj.2 - 1 260 c.51G>A c.(49-51)cgG>cgA p.R17R C22orf23_uc021wpl.1_Silent_p.R17R|POLR2F_uc010gxi.3_5'Flank|POLR2F_uc003aul.3_5'Flank|AK098727_uc003aum.3_5'Flank NM_032561 NP_115950 Q9BZE7 EVG1_HUMAN Homo sapiens chromosome 22 open reading frame 23 (C22orf23), transcript variant 1, mRNA. 17 endometrium(3)|kidney(2)|large_intestine(7) 12 Melanoma(58;0.045) TGGGGCGGCGCCGGAACCCAG 0.597000 239 57 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125528070 125528070 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:125528070G>A uc001lhk.1 - 8 1596 c.1271C>T c.(1270-1272)cCc>cTc p.P424L CPXM2_uc001lhj.3_Non-coding_Transcript NM_198148 NP_937791 Q8N436 CPXM2_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA. 424 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GTAGCCATCGGGGTTGAGGGA 0.627000 108 9 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56015427 56015427 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:56015427G>A uc003xsf.3 + 0 411 c.379G>A c.(379-381)Ggc>Agc p.G127S NM_052898 NP_443130 Q5GH76 XKR4_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA. 127 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) CGCGGACGTGGGCACAGACGT 0.687000 107 5 0 0 1 0 0 PKD2 5311 broad.mit.edu 37 4 88967822 88967822 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:88967822G>A uc003hre.3 + 5 1435 c.1348G>A c.(1348-1350)Ggt>Agt p.G450S PKD2_uc011cdf.2_Intron NM_000297 NP_000288 Q13563 PKD2_HUMAN Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA. 450 basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) AGCAACAGGTGGTGTGATTCC 0.378000 108 8 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108776323 108776323 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:108776323T>C uc003dxl.3 - 12 1129 c.1042A>G c.(1042-1044)Aca>Gca p.T348A MORC1_uc011bhn.2_Missense_Mutation_p.T348A NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 348 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 GTTCTTGCTGTTTTTAATTCT 0.313000 39 8 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579734 82579734 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:82579734G>A uc003uhx.2 - 5 10459 c.10170C>T c.(10168-10170)atC>atT p.I3390I PCLO_uc003uhv.2_Silent_p.I3390I|PCLO_uc010lec.3_Silent_p.I355I NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3321 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CAGTGCTCAGGATACCAGGTG 0.448000 35 3 0 0 1 0 0 ARRB2 409 broad.mit.edu 37 17 4623881 4623881 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:4623881C>T uc010vsg.2 + 14 1373 c.1145_splice c.e14-1 p.A382_splice ARRB2_uc002fyj.3_Splice_Site_p.A361_splice|ARRB2_uc002fyk.3_Splice_Site_p.A346_splice|ARRB2_uc002fyl.3_Missense_Mutation_p.A373V|ARRB2_uc002fym.3_Missense_Mutation_p.A358V|ARRB2_uc002fyn.3_Splice_Site_p.A169_splice NM_004313 NP_004304 P32121 ARRB2_HUMAN Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA. 361 Interaction with AP2B1.|Interaction with TRAF6. G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 GTCCCCCCAGCCGCTCCGGAG 0.587000 48 3 0 0 1 0 0 PRR16 51334 broad.mit.edu 37 5 120022114 120022114 + Missense_Mutation SNP G A A rs35167981 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:120022114G>A uc003ksq.3 + 1 788 c.625G>A c.(625-627)Gaa>Aaa p.E209K PRR16_uc003ksp.3_Missense_Mutation_p.E186K|PRR16_uc003ksr.3_Missense_Mutation_p.E139K NM_016644 NP_057728 Q569H4 PRR16_HUMAN Homo sapiens proline rich 16 (PRR16), mRNA. 209 Pro-rich. p.V208A(1) endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) TCGGTTTAATGAAAAAGTACA 0.488000 38 5 0 0 1 0 0 TOMM70A 9868 broad.mit.edu 37 3 100084413 100084413 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:100084413A>T uc003dtw.3 - 11 2271 c.1822T>A c.(1822-1824)Tta>Ata p.L608I NM_014820 NP_055635 O94826 TOM70_HUMAN Homo sapiens translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) (TOMM70A), nuclear gene encoding mitochondrial protein, mRNA. 608 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 32 CTGTTTTATAATGTTGGTGGT 0.448000 163 20 0 0 1 0 0 SARS 6301 broad.mit.edu 37 1 109772077 109772077 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:109772077T>C uc001dwu.2 + 3 430 c.330T>C c.(328-330)atT>atC p.I110I NM_006513 NP_006504 P49591 SYSC_HUMAN Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA. 110 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|RNA binding|protein binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) GACTCCTCATTGATGAAGCCA 0.507000 243 29 0 0 1 0 0 LRIT2 340745 broad.mit.edu 37 10 85984787 85984787 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:85984787G>A uc010qmc.2 - 1 202 c.194C>T c.(193-195)tCa>tTa p.S65L LRIT2_uc001kcy.3_Missense_Mutation_p.S65L NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA. 65 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 AAATAAGGGTGAATTTTCAAT 0.448000 95 8 0 0 1 0 0 NAP1L2 4674 broad.mit.edu 37 X 72432951 72432951 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:72432951G>A uc004ebi.3 - 0 1760 c.1378C>T c.(1378-1380)Cgt>Tgt p.R460C NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA. 460 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CTGCTCTAACGATCAATGTCT 0.348000 19 5 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55873319 55873319 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:55873319C>T uc010riy.2 + 0 801 c.801C>T c.(799-801)tcC>tcT p.S267S NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA. 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) AGTCTTATTCCTTGGGAAGAG 0.368000 HNSCC(53;0.14) 45 6 0 0 1 0 0 WNT11 7481 broad.mit.edu 37 11 75902838 75902838 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:75902838G>A uc001oxe.3 - 3 783 c.660C>T c.(658-660)atC>atT p.I220I WNT11_uc001oxf.1_Silent_p.I220I NM_004626 NP_004617 O96014 WNT11_HUMAN Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA. 220 Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|Ras GTPase activator activity|protein kinase activator activity|transcription regulatory region DNA binding breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 AGCAGGTGCGGATGGAGCAGG 0.632000 61 4 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141758013 141758013 + Missense_Mutation SNP G T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141758013G>T uc003vwy.3 + 30 3758 c.3704G>T c.(3703-3705)cGg>cTg p.R1235L NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1235 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTGATTGGCCGGCCTGTGATG 0.438000 282 43 2.27459e-33 2.30563e-33 1 1 0 ATP6V0A4 50617 broad.mit.edu 37 7 138453618 138453618 + Splice_Site SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:138453618A>T uc003vuf.3 - 4 435 c.197_splice c.e4-1 p.R66_splice ATP6V0A4_uc003vug.3_Splice_Site_p.R66_splice|ATP6V0A4_uc003vuh.3_Splice_Site_p.R66_splice NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA. 66 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CTTCCAGAAAACCTGAAGAAT 0.458000 39 6 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209190148 209190148 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:209190148C>T uc002vcz.3 + 19 2771 c.2613C>T c.(2611-2613)tcC>tcT p.S871S PIKFYVE_uc010fun.1_Silent_p.S552S|PIKFYVE_uc002vcy.1_Silent_p.S815S NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA. 871 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 TAGAAATATCCTTTCTCATGG 0.438000 56 5 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237620018 237620018 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:237620018C>T uc001hyl.1 + 15 1715 c.1595C>T c.(1594-1596)tCt>tTt p.S532F NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 532 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATTCTGAATTCTCTGTATGAG 0.448000 58 3 0 0 1 0 0 WFDC10B 280664 broad.mit.edu 37 20 44333576 44333576 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:44333576C>T uc002xpc.3 - 0 83 c.55G>A c.(55-57)Gat>Aat p.D19N WFDC10B_uc002xpb.3_5'UTR|WFDC13_uc002xpd.3_Intron NM_172131 NP_742143 Q8IUB3 WF10B_HUMAN Homo sapiens WAP four-disulfide core domain 10B (WFDC10B), transcript variant 2, mRNA. 0 extracellular region peptidase inhibitor activity lung(2)|ovary(1)|stomach(1) 4 Myeloproliferative disorder(115;0.0122) TAACCAAAATCCCAAAGCAAA 0.507000 255 24 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41160458 41160458 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:41160458G>A uc003jmk.2 - 10 1680 c.1470C>T c.(1468-1470)atC>atT p.I490I C6_uc003jml.1_Silent_p.I490I NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 490 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CCAAGTCCACGATGGGGGCAA 0.498000 52 6 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72301464 72301464 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:72301464G>A uc002jkf.3 + 8 1204 c.1094G>A c.(1093-1095)gGc>gAc p.G365D DNAI2_uc002jkg.3_Missense_Mutation_p.G365D|DNAI2_uc010dfp.3_Non-coding_Transcript|BX648926_uc002jkh.1_3'UTR|DNAI2_uc002jki.3_Non-coding_Transcript NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA. 365 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity p.H364Y(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GGCCATCATGGCCCCATCTAC 0.582000 Kartagener syndrome 83 7 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113221378 113221378 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:113221378C>T uc010mtz.3 - 18 3675 c.3338G>A c.(3337-3339)gGa>gAa p.G1113E SVEP1_uc010mua.1_Missense_Mutation_p.G1113E NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 1113 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CGAGAATTTTCCTTCTGGACA 0.423000 101 22 0 0 1 0 0 SUFU 51684 broad.mit.edu 37 10 104269022 104269022 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:104269022C>T uc001kvy.2 + 1 470 c.279C>T c.(277-279)ttC>ttT p.F93F SUFU_uc001kvw.2_Silent_p.F93F|SUFU_uc001kvx.3_Silent_p.F93F NM_016169 NP_057253 Q9UMX1 SUFU_HUMAN Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA. 93 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) acatcagcttcggcctgagtg 0.532000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 184 16 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89992930 89992930 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:89992930C>T uc003kju.3 + 33 8218 c.8122C>T c.(8122-8124)Cag>Tag p.Q2708* GPR98_uc003kjt.3_Nonsense_Mutation_p.Q414*|GPR98_uc003kjv.3_Nonsense_Mutation_p.Q308* NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2708 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding p.Q2708H(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGTTAGCTTTCAGACAGCTTC 0.393000 110 4 0 0 1 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116100456 116100456 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:116100456G>A uc001lbn.3 - 1 352 c.51C>T c.(49-51)ttC>ttT p.F17F AFAP1L2_uc001lbo.3_Silent_p.F17F|AFAP1L2_uc010qse.2_Silent_p.F17F|AFAP1L2_uc001lbp.3_Silent_p.F17F|AFAP1L2_uc001lbr.1_Silent_p.F17F NM_001001936 NP_001001936 Q8N4X5 AF1L2_HUMAN Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA. 17 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) GAATCTTGAGGAAGTCATCCA 0.537000 64 6 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66454513 66454514 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:66454513_66454514CC>TT uc001ojd.3 - 34 6919_6920 c.6847_6848GG>AA c.(6847-6849)ggc>AAc p.G2283N SPTBN2_uc001ojc.1_Missense_Mutation_p.A144T NM_006946 NP_008877 O15020 SPTN2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA. 2283 PH. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 GGCGACGCTGCCCTGGGCCCTG 0.614000 165 17 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2596845 2596845 + Missense_Mutation SNP G T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:2596845G>T uc002wgf.1 + 14 1950 c.1935G>T c.(1933-1935)atG>atT p.M645I TMC2_uc002wgg.1_Missense_Mutation_p.M629I NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN Homo sapiens transmembrane channel-like 2 (TMC2), mRNA. 645 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 ACCAAGGAATGATCTGGTGAG 0.443000 61 4 0.00198382 0.00199191 1 1 0 DCSTAMP 81501 broad.mit.edu 37 8 105361650 105361650 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:105361650G>A uc003ylx.1 + 1 919 c.870G>A c.(868-870)agG>agA p.R290R NM_030788 NP_110415 Q9H295 TM7S4_HUMAN Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA. 290 osteoclast differentiation cell surface|integral to membrane|plasma membrane CTAAAGAAAGGAAAAACCTGG 0.493000 80 6 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233193016 233193016 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:233193016G>A uc001hvl.2 - 23 4332 c.4097C>T c.(4096-4098)tCc>tTc p.S1366F PCNXL2_uc001hvk.1_Missense_Mutation_p.S18F|PCNXL2_uc001hvm.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 1366 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TCTTGTGTTGGAATTATCCAC 0.408000 20 3 0 0 1 0 0 DLX5 1749 broad.mit.edu 37 7 96651519 96651519 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:96651519G>A uc003uon.3 - 1 726 c.518C>T c.(517-519)tCg>tTg p.S173L DLX5_uc011kim.1_Missense_Mutation_p.S173L NM_005221 NP_005212 P56178 DLX5_HUMAN Homo sapiens distal-less homeobox 5 (DLX5), mRNA. 173 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) CAATCCCAGCGAGGCGGCCAG 0.577000 168 17 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117199657 117199657 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:117199657C>T uc003vjd.3 + 10 1664 c.1532C>T c.(1531-1533)tCc>tTc p.S511F CFTR_uc011knq.2_5'UTR|CFTR_uc003vje.1_Non-coding_Transcript NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 511 ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TTTGGTGTTTCCTATGATGAA 0.358000 Cystic Fibrosis 64 5 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882788 228882788 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:228882788C>T uc002vpq.2 - 6 2829 c.2782G>A c.(2782-2784)Gac>Aac p.D928N SPHKAP_uc002vpp.2_Missense_Mutation_p.D928N|SPHKAP_uc010zlx.1_Missense_Mutation_p.D928N NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 928 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TCCGCAAAGTCTGTAATGCAG 0.478000 132 6 0 0 1 0 0 FAM13C 220965 broad.mit.edu 37 10 61028354 61028354 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:61028354G>A uc010qif.1 - 7 1033 c.967C>T c.(967-969)Cgg>Tgg p.R323W FAM13C_uc010qid.2_Missense_Mutation_p.R218W|FAM13C_uc001jkn.3_Missense_Mutation_p.R301W|FAM13C_uc001jko.3_Missense_Mutation_p.R301W|FAM13C_uc010qie.2_Missense_Mutation_p.R218W|FAM13C_uc001jkp.3_Missense_Mutation_p.R218W NM_198215 NP_937858 Q8NE31 FA13C_HUMAN Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA. 301 p.R301W(1) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TCAAATTTCCGAATTTTCCGC 0.507000 34 4 0 0 1 0 0 HMGB3P1 128872 broad.mit.edu 37 20 33422175 33422175 + RNA SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:33422175G>A uc002xax.3 - 0 c.91C>T Homo sapiens high mobility group box 3 pseudogene 1 (HMGB3P1), non-coding RNA. GGGACCTCTGGATTTTTCTTA 0.478000 62 7 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155252751 155252751 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:155252751G>A uc003inw.2 - 9 2349 c.2349C>T c.(2347-2349)ttC>ttT p.F783F DCHS2_uc003inx.2_Intron NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 783 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ctaattcacagaaCAGAGACT 0.473000 22 3 0 0 1 0 0 OR52B2 255725 broad.mit.edu 37 11 6191299 6191299 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:6191299G>A uc010qzy.2 - 0 258 c.258C>T c.(256-258)atC>atT p.I86I NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA. 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A85S(1) NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGCCAAAAGATGGCTAGGG 0.493000 112 11 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38743637 38743637 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:38743637T>C uc021yzh.1 + 12 1981 c.1872T>C c.(1870-1872)gtT>gtC p.V624V DNAH8_uc003ooe.2_Silent_p.V407V NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ACCAAGGGGTTAAGAAAAAGC 0.303000 89 8 0 0 1 0 0 HYAL4 23553 broad.mit.edu 37 7 123508850 123508850 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:123508850G>A uc003vlc.3 + 2 1161 c.523G>A c.(523-525)Gga>Aga p.G175R HYAL4_uc011knz.2_Missense_Mutation_p.G175R NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA. 175 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 TTCCGATATGGGAAAGAATGT 0.388000 71 14 0 0 1 0 0 P2RY2 5029 broad.mit.edu 37 11 72945398 72945398 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:72945398G>A uc021qna.1 + 0 194 c.194G>A c.(193-195)tGg>tAg p.W65* P2RY2_uc001otk.3_Nonsense_Mutation_p.W65*|P2RY2_uc001otj.3_Nonsense_Mutation_p.W65*|P2RY2_uc001otl.3_Nonsense_Mutation_p.W65* NM_176072 NP_788086 P41231 P2RY2_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA. 65 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) CTCAAGACCTGGAATGCGTCC 0.602000 122 5 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164704957 164704957 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:164704957A>G uc003fei.3 - 44 5229 c.5166T>C c.(5164-5166)ggT>ggC p.G1722G NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 1722 Sucrase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AAAACAGAGAACCCTGTGCCA 0.333000 HNSCC(35;0.089) 90 5 0 0 1 0 0 HNF1B 6928 broad.mit.edu 37 17 36099564 36099564 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:36099564C>T uc002hok.4 - 1 632 c.411G>A c.(409-411)agG>agA p.R137R HNF1B_uc010wdi.2_Silent_p.R137R|HNF1B_uc021tvv.1_Silent_p.R137R|HNF1B_uc021tvw.1_Silent_p.R137R NM_000458 NP_000449 P35680 HNF1B_HUMAN Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA. 137 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) CGACCACCTCCCTCTGGGGGA 0.552000 53 6 0 0 1 0 0 NR5A2 2494 broad.mit.edu 37 1 200143254 200143254 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:200143254A>G uc001gvb.3 + 7 1748 c.1542A>G c.(1540-1542)gaA>gaG p.E514E NR5A2_uc001gvc.3_Silent_p.E468E|NR5A2_uc009wzh.3_Silent_p.E474E|NR5A2_uc010pph.2_Silent_p.E442E NM_205860 NP_995582 O00482 NR5A2_HUMAN Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA. 514 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) TGCAGGCTGAAGAATACCTCT 0.463000 31 5 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98906990 98906990 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:98906990G>A uc002syo.3 + 22 3326 c.3062G>A c.(3061-3063)gGa>gAa p.G1021E VWA3B_uc002sym.3_Missense_Mutation_p.G1021E|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.G678E|VWA3B_uc002syp.1_Missense_Mutation_p.G413E|VWA3B_uc002syq.1_Missense_Mutation_p.G297E|VWA3B_uc002syr.1_Missense_Mutation_p.G338E|VWA3B_uc002sys.3_Non-coding_Transcript NM_144992 NP_659429 Q502W6 VWA3B_HUMAN Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA. 1021 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AAATTGCAAGGAAATCCAACA 0.353000 33 3 0 0 1 0 0 CPA2 1358 broad.mit.edu 37 7 129922006 129922006 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:129922006G>A uc003vpq.3 + 9 1069 c.1050G>A c.(1048-1050)gtG>gtA p.V350V NM_001869 NP_001860 P48052 CBPA2_HUMAN Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA. 350 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) AGTACAAAGTGGGACCAATCT 0.458000 95 5 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74043916 74043916 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:74043916C>T uc002sjr.1 + 2 2687 c.2566C>T c.(2566-2568)Cca>Tca p.P856S NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA. 856 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 CCAACCCCGTCCATGGAGGAA 0.537000 83 7 0 0 1 0 0 SCG3 29106 broad.mit.edu 37 15 51984484 51984484 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:51984484A>G uc002abh.3 + 6 1222 c.819A>G c.(817-819)gaA>gaG p.E273E SCG3_uc010ufz.2_Silent_p.E41E NM_013243 NP_001158729 Q8WXD2 SCG3_HUMAN Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA. 273 EEL -> RDF (in Ref. 1; AAD44483). platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) ACTTTGAGGAACTCCAATATT 0.383000 79 4 0 0 1 0 0 CLIP2 7461 broad.mit.edu 37 7 73731903 73731903 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:73731903C>T uc003uam.3 + 1 354 c.27C>T c.(25-27)ccC>ccT p.P9P CLIP2_uc003uan.3_Silent_p.P9P NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA. 9 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 GCCTGAAGCCCCCCGGCCGTG 0.667000 106 8 0 0 1 0 0 PAH 5053 broad.mit.edu 37 12 103248989 103248989 + Missense_Mutation SNP G A A rs62514931 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:103248989G>A uc001tjq.1 - 5 1104 c.631C>T c.(631-633)Cca>Tca p.P211S PAH_uc010swc.1_Missense_Mutation_p.P211S NM_000277 NP_000268 P00439 PH4H_HUMAN Homo sapiens phenylalanine hydroxylase (PAH), mRNA. 211 P -> T (in PKU; haplotype 4). L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) TCAAGAAGTGGAAAAATGTGA 0.433000 64 6 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125076686 125076686 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:125076686C>T uc003yqw.3 + 25 3633 c.3427C>T c.(3427-3429)Ccc>Tcc p.P1143S AK057332_uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 1143 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TGAGCCACCTCCCACAGTGGT 0.587000 137 16 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17518322 17518322 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:17518322C>T uc001mnf.3 - 19 1738 c.1629G>A c.(1627-1629)aaG>aaA p.K543K USH1C_uc001mne.3_Silent_p.K843K|USH1C_uc009yhb.3_Silent_p.K524K|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Silent_p.K507K NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. 543 G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 CGTCATACTCCTTTGGGGGGC 0.582000 100 7 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40399600 40399600 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:40399600G>A uc003oph.1 - 1 1718 c.1253C>T c.(1252-1254)cCc>cTc p.P418L NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA. 418 Fibronectin type-III. cell junction|integral to membrane|postsynaptic membrane p.P418S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GGGGCTTTTGGGAGGCTCTCC 0.652000 101 6 0 0 1 0 0 SLC6A9 6536 broad.mit.edu 37 1 44467209 44467209 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:44467209G>A uc001cll.3 - 8 1464 c.1272C>T c.(1270-1272)caC>caT p.H424H SLC6A9_uc009vxe.2_Silent_p.H280H|SLC6A9_uc010okm.1_Silent_p.H351H|SLC6A9_uc001clm.3_Silent_p.H370H|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.H355H|SLC6A9_uc010oko.2_Silent_p.H240H|SLC6A9_uc001cln.3_Silent_p.H351H|SLC6A9_uc010okp.1_Non-coding_Transcript NM_201649 NP_964012 P48067 SC6A9_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA. 424 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CCACGCCCAGGTGATTGGCCA 0.607000 173 28 0 0 1 0 0 MRS2 57380 broad.mit.edu 37 6 24416704 24416704 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:24416704G>A uc011djl.2 + 7 930 c.808G>A c.(808-810)Gag>Aag p.E270K MRS2_uc003nea.3_Missense_Mutation_p.E267K|MRS2_uc003neb.3_Missense_Mutation_p.E267K|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Missense_Mutation_p.E217K NM_020662 NP_065713 Q9HD23 MRS2_HUMAN Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA. 267 ion transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 GTTGCTAGAAGAGCTCTGTGT 0.308000 165 17 0 0 1 0 0 TTLL12 23170 broad.mit.edu 37 22 43570582 43570582 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:43570582G>A uc003bdq.3 - 6 1019 c.957C>T c.(955-957)acC>acT p.T319T TTLL12_uc021wqu.1_5'Flank NM_015140 NP_055955 Q14166 TTL12_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA. 319 TTL. protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) AGCGCGGGTGGGTGAGGCTGC 0.647000 109 8 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52200593 52200593 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:52200593G>A uc001ryw.3 + 26 5501 c.5323G>A c.(5323-5325)Gaa>Aaa p.E1775K SCN8A_uc010snl.2_Missense_Mutation_p.E1734K NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA. 1775 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) AGCCACAGAGGAAAGTGCAGA 0.463000 175 14 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100685695 100685695 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:100685695G>A uc003uxp.1 + 2 11051 c.10998G>A c.(10996-10998)gtG>gtA p.V3666V MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3666 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCACACCTGTGATCACTTCTA 0.493000 246 19 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9012850 9012850 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9012850T>C uc002mkp.3 - 33 38798 c.38594A>G c.(38593-38595)aAc>aGc p.N12865S MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12867 SEA 6. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTACTGCAGGTTGGTGATGGT 0.552000 259 10 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123594178 123594178 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:123594178C>T uc003vle.3 + 2 993 c.554C>T c.(553-555)aCt>aTt p.T185I SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.T185I|SPAM1_uc022aks.1_Missense_Mutation_p.T185I|SPAM1_uc003vlf.4_Missense_Mutation_p.T185I|SPAM1_uc010lku.3_Missense_Mutation_p.T185I NM_003117 NP_003108 P38567 HYALP_HUMAN Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA. 185 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) ACAGAGGCCACTGAGAAAGCA 0.393000 38 4 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106667749 106667749 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:106667749C>T uc021ser.1 - 1314 c.27178G>A Parts of antibodies, mostly variable regions. CCAGCCCCTTCCCTGGAGCTT 0.562000 219 23 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 395335 395335 + Silent SNP G C C rs142078818 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:395335G>C uc001ifp.3 - 24 3135 c.3045C>G c.(3043-3045)gcC>gcG p.A1015A DIP2C_uc009xhi.1_Silent_p.A401A NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA. 1015 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TCAGCATCACGGCGATCTTCT 0.617000 77 6 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179436520 179436520 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:179436520C>T uc021vsy.1 - 274 66860 c.66635G>A c.(66634-66636)cGa>cAa p.R22212Q MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R15907Q|TTN_uc021vta.1_Missense_Mutation_p.R15840Q|TTN_uc021vtb.1_Missense_Mutation_p.R15715Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 23139 Fibronectin type-III 61. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACATCTTCTCGGCAGGCGTC 0.418000 86 12 0 0 1 0 0 DCP2 167227 broad.mit.edu 37 5 112327826 112327826 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:112327826C>T uc003kqh.3 + 2 438 c.214C>T c.(214-216)Cat>Tat p.H72Y DCP2_uc010jcc.3_Missense_Mutation_p.H72Y|DCP2_uc011cwa.2_Intron NM_152624 NP_689837 Q8IU60 DCP2_HUMAN Homo sapiens DCP2 decapping enzyme homolog (S. cerevisiae) (DCP2), transcript variant 1, mRNA. 72 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|nucleus RNA binding|exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding endometrium(3)|large_intestine(6)|lung(1) 10 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) ACTCTTCAGTCATTGTCCGTT 0.333000 132 9 0 0 1 0 0 OR1S2 219958 broad.mit.edu 37 11 57971536 57971536 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:57971536G>A uc010rkb.2 - 0 118 c.118C>T c.(118-120)Ctc>Ttc p.L40F NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA. 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) AGCACAAAGAGGAGGTTTTGA 0.448000 67 7 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166179938 166179938 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:166179938G>A uc002udc.3 + 11 2234 c.1944G>A c.(1942-1944)gtG>gtA p.V648V SCN2A_uc002udd.3_Silent_p.V648V|SCN2A_uc002ude.3_Silent_p.V648V NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 648 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) ATAGCGCTGTGGACTGCAATG 0.592000 29 5 0 0 1 0 0 CBLN4 140689 broad.mit.edu 37 20 54578952 54578952 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:54578952G>A uc002xxa.3 - 0 1061 c.276C>T c.(274-276)atC>atT p.I92I NM_080617 NP_542184 Q9NTU7 CBLN4_HUMAN Homo sapiens cerebellin 4 precursor (CBLN4), mRNA. 92 C1q. cell junction|extracellular region|synapse p.I92I(2) endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1) 17 Colorectal(105;0.202) CGAAGTAAATGATGCGCGTCT 0.652000 367 39 0 0 1 0 0 FLT3 2322 broad.mit.edu 37 13 28623828 28623828 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:28623828G>A uc001urw.3 - 6 908 c.826C>T c.(826-828)Cat>Tat p.H276Y FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.H276Y NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 276 Ig-like C2-type. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TGGTTCACATGAACAGCTTTG 0.398000 """Mis, O""" """AML, ALL""" 73 11 0 0 1 0 0 UBC 7316 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T G G rs149119138 by1000genomes TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:21731144T>G uc002gyy.3 + 1 571 c.446T>G c.(445-447)cTg>cGg p.L149R P0CG48 UBC_HUMAN SubName: Full=Uncharacterized protein; 301 Ubiquitin-like 2. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.L149R(18)|p.R148S(1) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GTCCTGCGTCTGAGAGGTGGT 0.542000 89 5 0 0 1 0 0 TTC39B 158219 broad.mit.edu 37 9 15175054 15175054 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:15175054C>T uc003zlr.2 - 18 1958 c.1921G>A c.(1921-1923)Gaa>Aaa p.E641K TTC39B_uc003zlq.2_Missense_Mutation_p.E544K|TTC39B_uc011lmp.2_Missense_Mutation_p.E476K|TTC39B_uc010mie.2_Missense_Mutation_p.E639K|TTC39B_uc011lmr.2_Missense_Mutation_p.E572K|TTC39B_uc011lmq.2_Missense_Mutation_p.E628K|TTC39B_uc003zlp.2_Missense_Mutation_p.E158K NM_152574 NP_001161814 Q5VTQ0 TT39B_HUMAN Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA. 575 binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1) 21 TTGTCAATTTCCCCCTGGCTT 0.408000 84 5 0 0 1 0 0 HOXD10 3236 broad.mit.edu 37 2 176982111 176982111 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:176982111G>A uc002ukj.3 + 0 620 c.550G>A c.(550-552)Ggc>Agc p.G184S NM_002148 NP_002139 P28358 HXD10_HUMAN Homo sapiens homeobox D10 (HOXD10), mRNA. 184 nucleus sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) CAACCCTCGTGGCGCGGCCAA 0.582000 68 14 0 0 1 0 0 KRTAP12-2 353323 broad.mit.edu 37 21 46086496 46086496 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:46086496G>A uc002zfu.3 - 0 349 c.308C>T c.(307-309)tCc>tTc p.S103F TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_181684 NP_859012 P59991 KR122_HUMAN Homo sapiens keratin associated protein 12-2 (KRTAP12-2), mRNA. 103 23 X 5 AA approximate repeats. keratin filament central_nervous_system(1)|endometrium(1)|lung(3) 5 CACGCACAGGGAGGACTGGCA 0.642000 89 4 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38691179 38691179 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:38691179G>A uc021yzh.1 + 2 566 c.457G>A c.(457-459)Gaa>Aaa p.E153K DNAH8_uc003ooe.2_5'UTR NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATATATATTTGAAATTCTAGC 0.318000 129 9 0 0 1 0 0 SLC2A3 6515 broad.mit.edu 37 12 8074122 8074122 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:8074122C>T uc001qtr.3 - 9 1640 c.1378G>A c.(1378-1380)Gat>Aat p.D460N NM_006931 NP_008862 P11169 GTR3_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA. 460 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity p.E459D(1) central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) CGTGTGATATCCTCAAAAGTC 0.502000 160 7 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79932528 79932528 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:79932528T>C uc004edt.3 - 40 5252 c.4989A>G c.(4987-4989)agA>agG p.R1663R BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Silent_p.R1492R|BRWD3_uc004edq.3_Silent_p.R1259R|BRWD3_uc010nmj.2_Silent_p.R1259R|BRWD3_uc004edr.3_Silent_p.R1333R|BRWD3_uc004eds.3_Silent_p.R1259R|BRWD3_uc004edo.3_Silent_p.R1259R|BRWD3_uc004edu.3_Silent_p.R1333R|BRWD3_uc004edv.3_Silent_p.R1259R|BRWD3_uc004edw.3_Silent_p.R1259R|BRWD3_uc004edx.3_Silent_p.R1259R|BRWD3_uc004edy.3_Silent_p.R1259R|BRWD3_uc004edz.3_Silent_p.R1333R|BRWD3_uc004eea.3_Silent_p.R1333R|BRWD3_uc004eeb.3_Silent_p.R1259R NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA. 1663 Gly-rich. p.R1663I(1) breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TCTTCCAATTTCTTTTTCCAT 0.468000 79 15 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103136406 103136406 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:103136406C>T uc002tbz.4 + 8 2267 c.1810C>T c.(1810-1812)Cgg>Tgg p.R604W NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 604 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 GTACCAAGTTCGGCAAAGGGT 0.463000 56 3 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55638937 55638937 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:55638937G>A uc003pcq.3 - 3 1649 c.937C>T c.(937-939)Cga>Tga p.R313* BMP5_uc011dxf.2_Nonsense_Mutation_p.R313* NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 313 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity p.R313*(2) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CTCACGGATCGAAGAAGTACC 0.458000 81 11 0 0 1 0 0 DYX1C1 161582 broad.mit.edu 37 15 55742462 55742462 + Silent SNP G A A rs145991721 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:55742462G>A uc002adc.3 - 5 1109 c.741C>T c.(739-741)ttC>ttT p.F247F CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Non-coding_Transcript|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Silent_p.F247F|DYX1C1_uc002add.3_Silent_p.F247F NM_130810 NP_570722 Q8WXU2 DYXC1_HUMAN Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA. 247 neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) GAGCTGTTGGGAATACTCGAG 0.348000 95 9 0 0 1 0 0 ZNF675 171392 broad.mit.edu 37 19 23836819 23836819 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:23836819G>A uc002nri.3 - 3 1098 c.916C>T c.(916-918)Cat>Tat p.H306Y NM_138330 NP_612203 Q8TD23 ZN675_HUMAN Homo sapiens zinc finger protein 675 (ZNF675), mRNA. 306 I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TCTCCAGTATGAATTTTTTTA 0.368000 67 6 0 0 1 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443930 5443930 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:5443930G>A uc010qzd.2 + 0 590 c.500G>A c.(499-501)cGa>cAa p.R167Q HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA. 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R167*(1) endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTACTCAAGCGACTGCCTTTC 0.517000 232 17 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6694441 6694441 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:6694441C>T uc002mfm.3 - 24 3216 c.3154_splice c.e24+1 p.G1052_splice NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 1052 G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) AGGGAGCCCACCCTTCTTGAT 0.627000 56 6 0 0 1 0 0 IL5RA 3568 broad.mit.edu 37 3 3137042 3137042 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:3137042G>A uc011ask.2 - 8 1440 c.796C>T c.(796-798)Cca>Tca p.P266S IL5RA_uc010hbq.3_Intron|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.P266S|IL5RA_uc011asl.2_Missense_Mutation_p.P266S|IL5RA_uc011asm.1_Missense_Mutation_p.P266S|IL5RA_uc010hbt.2_Missense_Mutation_p.P266S|IL5RA_uc011asn.1_Missense_Mutation_p.P266S|IL5RA_uc010hbu.2_Missense_Mutation_p.P266S|IL5RA_uc010hbp.3_5'Flank NM_000564 NP_783853 Q01344 IL5RA_HUMAN Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA. 266 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) CAATGGATTGGAAAAGCAGAC 0.353000 45 3 0 0 1 0 0 PCNP 57092 broad.mit.edu 37 3 101311501 101311501 + Silent SNP C T T rs17851951 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:101311501C>T uc003dva.3 + 4 459 c.441C>T c.(439-441)tcC>tcT p.S147S PCNP_uc003dvb.3_Non-coding_Transcript|PCNP_uc003dvc.3_Non-coding_Transcript|PCNP_uc003dvd.3_Missense_Mutation_p.L129F NM_020357 NP_065090 Q8WW12 PCNP_HUMAN Homo sapiens PEST proteolytic signal containing nuclear protein (PCNP), mRNA. 147 cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination nucleus protein binding large_intestine(1)|lung(1) 2 GACCAAACTCCTTCAATAAAG 0.333000 82 4 0 0 1 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52132750 52132750 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:52132750G>A uc002pxe.3 - 2 700 c.561C>T c.(559-561)ccC>ccT p.P187P NM_003830 NP_003821 O15389 SIGL5_HUMAN Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA. 187 Ig-like C2-type 1. cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CGGGGTCCAGGGGGCTGAGGG 0.657000 13 3 0 0 1 0 0 C1orf94 84970 broad.mit.edu 37 1 34663482 34663482 + Missense_Mutation SNP C T T rs145927354 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:34663482C>T uc001bxt.3 + 1 1815 c.977C>T c.(976-978)gCt>gTt p.A326V C1orf94_uc001bxs.4_Missense_Mutation_p.A136V NM_001134734 NP_116273 Q6P1W5 CA094_HUMAN Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA. 136 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) AAGCCCAAGGCTGACCCTGCT 0.607000 56 5 0 0 1 0 0 CHST2 9435 broad.mit.edu 37 3 142841169 142841169 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:142841169C>T uc003evm.3 + 1 2450 c.1511C>T c.(1510-1512)gCc>gTc p.A504V CHST2_uc021xex.1_Missense_Mutation_p.A504V NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA. 504 N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity p.A504A(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 CAGCCCATGGCCGTCCTGGGC 0.607000 75 5 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50728628 50728628 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:50728628G>A uc003bkv.4 - 2 479 c.386C>T c.(385-387)tCc>tTc p.S129F NM_012401 NP_036533 O15031 PLXB2_HUMAN Homo sapiens plexin B2 (PLXNB2), mRNA. 129 Sema. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CAGGCGGAGGGAGATGTTGCT 0.652000 41 3 0 0 1 0 0 CLEC4F 165530 broad.mit.edu 37 2 71044108 71044108 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:71044108G>A uc002shf.3 - 3 482 c.405C>T c.(403-405)ctC>ctT p.L135L CLEC4F_uc010yqv.1_Silent_p.L135L NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA. 135 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 CGAGCACCTGGAGCTGCGAAT 0.458000 151 11 0 0 1 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 58493 58493 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrGL000209.1:58493C>T uc002qud.4 + 2 370 c.297C>T c.(295-297)ttC>ttT p.F99F KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Silent_p.F55F|KIR2DL2_uc010yic.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evd.3_Silent_p.F99F|KIR2DL2_uc002quc.4_Silent_p.F60F|KIR2DL2_uc002quh.4_Intron|KIR2DL2_uc002que.4_Silent_p.F99F|KIR2DL2_uc002quf.4_Intron|KIR2DL2_uc010eve.3_Silent_p.F99F|KIR2DL2_uc002qug.4_Silent_p.F60F|KIR2DL2_uc010evf.3_5'Flank NM_002255 NP_002246 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA. 58 Ig-like C2-type 1. regulation of immune response integral to membrane|plasma membrane receptor activity TTAACATCTTCACGCTGTACA 0.552000 35 10 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70889118 70889118 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:70889118G>A uc002ezr.3 - 72 12504 c.12353C>T c.(12352-12354)tCc>tTc p.S4118F HYDIN_uc010cfy.3_Non-coding_Transcript NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 4119 p.S4070F(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GTCCTGGAAGGAAAAATCGAA 0.527000 65 5 0 0 1 0 0 UTP18 51096 broad.mit.edu 37 17 49353297 49353297 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:49353297C>T uc002its.3 + 5 831 c.782C>T c.(781-783)cCc>cTc p.P261L NM_016001 NP_057085 Q9Y5J1 UTP18_HUMAN Homo sapiens UTP18 small subunit (SSU) processome component homolog (yeast) (UTP18), mRNA. 261 rRNA processing nucleolus breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) CAGTTCCATCCCGGTGCACAG 0.383000 55 5 0 0 1 0 0 TCN1 6947 broad.mit.edu 37 11 59623392 59623392 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:59623392C>T uc001noj.2 - 5 985 c.887G>A c.(886-888)gGa>gAa p.G296E NM_001062 NP_001053 P20061 TCO1_HUMAN Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA. 296 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAAGGTCTTTCCCATCAGGGC 0.453000 60 7 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673247 141673247 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141673247G>A uc003vwx.1 - 0 327 c.243C>T c.(241-243)ttC>ttT p.F81F NM_176817 NP_789787 P59533 T2R38_HUMAN Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA. 81 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) TCAACTTCTGGAAGTGGGTAA 0.527000 177 15 0 0 1 0 0 RPSA 3921 broad.mit.edu 37 19 24010315 24010315 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:24010315G>A uc002nrn.3 + 3 775 c.352G>A c.(352-354)Gag>Aag p.E118K NM_002295 NP_002286 P08865 RSSA_HUMAN Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA. 118 cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane protein binding|receptor activity|ribosome binding|structural constituent of ribosome p.E118K(2) endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) AGCCTTCTGGGAGCCACGGCT 0.562000 68 5 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31877577 31877578 + Nonsense_Mutation DNP CG TA TA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:31877577_31877578CG>TA uc003tcm.2 - 9 1449_1450 c.988_989CG>TA c.(988-990)cga>TAa p.R330* PDE1C_uc003tcn.1_Nonsense_Mutation_p.R330*|PDE1C_uc003tco.2_Nonsense_Mutation_p.R390*|PDE1C_uc003tcr.3_Nonsense_Mutation_p.R330*|PDE1C_uc003tcs.3_Nonsense_Mutation_p.R330* NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 330 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.R330Q(6)|p.R390Q(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TACCAAGGTTCGAAACTCCCTT 0.391000 109 15 0 0 1 0 0 CSPP1 79848 broad.mit.edu 37 8 68007774 68007774 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:68007774C>T uc003xxi.3 + 7 893 c.862C>T c.(862-864)Cta>Tta p.L288L CSPP1_uc003xxg.1_Silent_p.L280L|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Silent_p.L253L|CSPP1_uc003xxk.3_5'UTR NM_024790 NP_079066 Q1MSJ5 CSPP1_HUMAN Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA. 288 centrosome|microtubule|spindle p.D288Y(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) CATTTCCAACCTAAAACATCA 0.373000 54 6 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138651672 138651672 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:138651672G>A uc011mdq.2 + 10 1076 c.1002G>A c.(1000-1002)atG>atA p.M334I KCNT1_uc011mdr.2_Missense_Mutation_p.M161I|KCNT1_uc010nbf.3_Missense_Mutation_p.M289I|KCNT1_uc004cgo.1_Missense_Mutation_p.M83I NM_020822 NP_065873 B7ZVY4 B7ZVY4_HUMAN Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA. 334 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TGGTCATCATGATCTGCGTGG 0.632000 58 7 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51393609 51393609 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:51393609C>T uc011bds.2 + 41 4362 c.4339C>T c.(4339-4341)Cgc>Tgc p.R1447C NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 1447 DHR-2. cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GAGCTTCTATCGCGTCAACAA 0.478000 71 6 0 0 1 0 0 DNAJC10 54431 broad.mit.edu 37 2 183606036 183606036 + Missense_Mutation SNP C G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:183606036C>G uc002uow.1 + 12 1559 c.1144C>G c.(1144-1146)Cct>Gct p.P382A DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.P336A|DNAJC10_uc010fro.1_Non-coding_Transcript NM_018981 NP_061854 Q8IXB1 DJC10_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA. 382 ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TTCAAATGATCCTGAGCTGAA 0.308000 26 4 0 0 1 0 0 CABP7 164633 broad.mit.edu 37 22 30124660 30124660 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:30124660G>A uc003agl.3 + 2 365 c.295G>A c.(295-297)Gga>Aga p.G99R NM_182527 NP_872333 Q86V35 CABP7_HUMAN Homo sapiens calcium binding protein 7 (CABP7), mRNA. 99 EF-hand 2. Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding p.G99E(1) lung(1)|skin(3) 4 OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233) GACCCTTCTGGGACCCAAACT 0.577000 76 7 0 0 1 0 0 CDC20 991 broad.mit.edu 37 1 43825729 43825729 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:43825729G>A uc001cix.3 + 4 618 c.517G>A c.(517-519)Gac>Aac p.D173N CDC20_uc001ciy.3_Missense_Mutation_p.D173N NM_001255 NP_001246 Q12834 CDC20_HUMAN Homo sapiens cell division cycle 20 homolog (S. cerevisiae) (CDC20), mRNA. 173 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TTCCCTGCCAGACCGTATCCT 0.522000 305 37 0 0 1 0 0 XKR9 389668 broad.mit.edu 37 8 71619375 71619375 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:71619375G>A uc003xyq.3 + 3 1014 c.480G>A c.(478-480)gcG>gcA p.A160A XKR9_uc010lzd.3_Silent_p.A28A|XKR9_uc010lze.3_Silent_p.A160A NM_001011720 NP_001011720 Q5GH70 XKR9_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA. 160 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) ATGGACAAGCGAATTTCAGTC 0.398000 81 11 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142460720 142460720 + Splice_Site SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142460720G>A uc003wak.2 + 5 609 c.592_splice c.e5-1 p.G198_splice TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Splice_Site_p.G138_splice NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 198 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) TCCCCCCAGGGTGATTCTGGT 0.527000 94 32 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23893122 23893122 + Silent SNP C T T rs141191984 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:23893122C>T uc001wjx.3 - 22 3022 c.2916G>A c.(2914-2916)gaG>gaA p.E972E NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 972 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TTACCTTGTTCTCTGTTGCGT 0.547000 85 13 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140269450 140269450 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:140269450C>T uc010lnk.3 - 6 2055 c.1535G>A c.(1534-1536)gGa>gAa p.G512E DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.G512E|DENND2A_uc003vvw.3_Missense_Mutation_p.G512E|DENND2A_uc003vvx.3_Missense_Mutation_p.G512E NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA. 512 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) TCTACCTTTTCCTGAGTTGCT 0.527000 240 8 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6916361 6916361 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:6916361G>A uc002mfw.3 + 11 1440 c.1402G>A c.(1402-1404)Gag>Aag p.E468K EMR1_uc010dvc.3_Missense_Mutation_p.E468K|EMR1_uc010dvb.3_Missense_Mutation_p.E416K|EMR1_uc010xji.2_Missense_Mutation_p.E327K|EMR1_uc010xjj.2_Missense_Mutation_p.E291K NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 468 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TTCCACAATTGAGGAATCTGA 0.438000 143 9 0 0 1 0 0 LHX6 26468 broad.mit.edu 37 9 124979498 124979498 + Silent SNP G T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:124979498G>T uc004blx.4 - 4 603 c.531C>A c.(529-531)cgC>cgA p.R177R LHX6_uc022bmw.1_5'UTR|LHX6_uc010mvw.3_Silent_p.R148R|LHX6_uc022bmx.1_Silent_p.R166R|LHX6_uc004bly.4_Silent_p.R177R NM_014368 NP_055183 Q9UPM6 LHX6_HUMAN Homo sapiens LIM homeobox 6 (LHX6), transcript variant 1, mRNA. 148 LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity). cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5) 8 AGGCGTTGCCGCGAGCTCTCC 0.667000 77 16 3.41278e-10 3.44958e-10 1 1 0 ITGAE 3682 broad.mit.edu 37 17 3665244 3665244 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:3665244C>T uc002fwo.4 - 3 379 c.280G>A c.(280-282)Gga>Aga p.G94R NM_002208 NP_002199 P38570 ITAE_HUMAN Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA. 94 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) ACGGTCACTCCCCGGTGCCTC 0.632000 42 4 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167852753 167852753 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:167852753G>A uc001ger.3 - 8 1240 c.942C>T c.(940-942)atC>atT p.I314I ADCY10_uc010plj.2_Silent_p.I161I|ADCY10_uc009wvk.3_Silent_p.I222I|ADCY10_uc009wvl.3_Silent_p.I313I|ADCY10_uc009wvm.2_Non-coding_Transcript NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 314 Guanylate cyclase 2. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|magnesium ion binding p.I314I(2)|p.A313T(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AGGCATCCTGGATGGCTGGGC 0.448000 105 6 0 0 1 0 0 MGST1 4257 broad.mit.edu 37 12 16507210 16507210 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:16507210G>A uc001rdh.3 + 1 167 c.24G>A c.(22-24)atG>atA p.M8I MGST1_uc001rdf.3_Missense_Mutation_p.M8I|MGST1_uc001rdg.3_Missense_Mutation_p.M8I|MGST1_uc009zih.1_Intron|MGST1_uc001rdi.3_Missense_Mutation_p.M8I NM_145791 NP_665735 P10620 MGST1_HUMAN Homo sapiens microsomal glutathione S-transferase 1 (MGST1), transcript variant 1c, mRNA. 8 protein homotrimerization|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane glutathione transferase activity endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Hepatocellular(102;0.121) Glutathione(DB00143) CCCAGGTAATGGATGATGAAG 0.318000 30 5 0 0 1 0 0 C2CD2 25966 broad.mit.edu 37 21 43327137 43327137 + Missense_Mutation SNP G A A rs146922306 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr21:43327137G>A uc002yzw.3 - 9 1524 c.1282C>T c.(1282-1284)Cgc>Tgc p.R428C C2CD2_uc002yzt.3_Missense_Mutation_p.R44C|C2CD2_uc002yzu.3_Missense_Mutation_p.R260C|C2CD2_uc002yzv.3_Missense_Mutation_p.R273C|C2CD2_uc002yzx.1_Missense_Mutation_p.R273C NM_015500 NP_950251 Q9Y426 CU025_HUMAN Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA. 428 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 ACGTCGACGCGAGGCTTGGTC 0.592000 87 17 0 0 1 0 0 NR2F1 7025 broad.mit.edu 37 5 92923970 92923970 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:92923970C>T uc003kkj.3 + 1 2498 c.811C>T c.(811-813)Ctg>Ttg p.L271L NR2F1_uc021ybj.1_Silent_p.L220L|NR2F1_uc021ybk.1_Silent_p.L246L NM_005654 NP_005645 P10589 COT1_HUMAN Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA. 271 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) CTCTATGCCGCTGCACGTGGC 0.667000 63 9 0 0 1 0 0 ESRP2 80004 broad.mit.edu 37 16 68268011 68268011 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:68268011C>T uc010cfa.1 - 3 516 c.328_splice c.e3-1 p.F110_splice ESRP2_uc002evp.1_5'Flank|ESRP2_uc002evq.1_Splice_Site_p.F110_splice NM_024939 NP_079215 Q9H6T0 ESRP2_HUMAN Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), mRNA. 110 RNA splicing|mRNA processing|regulation of RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 GCTGTGAGAACTGGGGATAGG 0.602000 14 3 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84558914 84558914 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:84558914C>T uc002bjz.4 + 10 1350 c.1126C>T c.(1126-1128)Cct>Tct p.P376S ADAMTSL3_uc010bmt.1_Missense_Mutation_p.P376S NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 376 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GAGGGTAGTTCCTGACCATTA 0.408000 113 16 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544905 82544905 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:82544905G>A uc003uhx.2 - 6 12686 c.12397C>T c.(12397-12399)Cgt>Tgt p.R4133C PCLO_uc003uhv.2_Missense_Mutation_p.R4133C|PCLO_uc010lec.3_Missense_Mutation_p.R1098C NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4064 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTCCCTCTACGAAATTCCTGT 0.408000 42 6 0 0 1 0 0 OR2M1P 388762 broad.mit.edu 37 1 248285683 248285683 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:248285683C>T uc001idy.1 + 0 246 c.246C>T c.(244-246)atC>atT p.I82I Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA. TCTCCTGGATCCTGGGCTCTA 0.448000 150 13 0 0 1 0 0 RTP3 83597 broad.mit.edu 37 3 46542102 46542102 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:46542102C>T uc003cps.1 + 1 480 c.412C>T c.(412-414)Cct>Tct p.P138S NM_031440 NP_113628 Q9BQQ7 RTP3_HUMAN Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA. 138 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) AGAGGAGGTTCCTATGATCAA 0.458000 91 4 0 0 1 0 0 DEF6 50619 broad.mit.edu 37 6 35278413 35278413 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:35278413C>T uc003okk.3 + 2 454 c.415C>T c.(415-417)Cct>Tct p.P139S DEF6_uc010jvs.3_Missense_Mutation_p.P139S|DEF6_uc010jvt.3_5'UTR NM_022047 NP_071330 Q9H4E7 DEFI6_HUMAN Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA. 139 cytoplasm|nucleus|plasma membrane cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 15 GATCATGGTTCCTGATGAGGT 0.527000 96 7 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107696146 107696146 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:107696146C>T uc010ljo.1 - 24 3770 c.3686G>A c.(3685-3687)aGg>aAg p.R1229K LAMB4_uc003vey.2_Missense_Mutation_p.R1229K|LAMB4_uc010ljp.1_Missense_Mutation_p.R198K NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 1229 Domain II. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TTTCAAAATCCTTTCTATTTC 0.408000 75 7 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69693672 69693672 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:69693672C>T uc002exm.2 + 5 1521 c.1185C>T c.(1183-1185)gtC>gtT p.V395V NFAT5_uc002exj.2_Silent_p.V319V|NFAT5_uc002exk.2_Silent_p.V319V|NFAT5_uc002exl.2_Silent_p.V413V|NFAT5_uc002exn.2_Silent_p.V413V|NFAT5_uc002exh.2_Silent_p.V189V|NFAT5_uc002exi.3_Silent_p.V319V NM_006599 NP_775322 O94916 NFAT5_HUMAN Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA. 395 RHD. excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 ATGCTGATGTCGAAGCCAGAA 0.373000 100 14 0 0 1 0 0 ISX 91464 broad.mit.edu 37 22 35478537 35478537 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:35478537C>T uc003anj.3 + 1 1207 c.256C>T c.(256-258)Cgt>Tgt p.R86C NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN Homo sapiens intestine-specific homeobox (ISX), mRNA. 86 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R86C(4) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 GCGGAGGGTTCGTACCACCTT 0.557000 134 29 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 228004921 228004921 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:228004921T>C uc021vxr.1 - 2 249 c.148A>G c.(148-150)Aga>Gga p.R50G COL4A4_uc021vxs.1_Missense_Mutation_p.R50G NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 50 7S domain. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding p.R50I(1) breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GAGCAATCTCTTCCTCCACAA 0.413000 94 7 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32931962 32931962 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:32931962G>A uc003cff.3 + 3 1329 c.1266G>A c.(1264-1266)ctG>ctA p.L422L NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN Homo sapiens tripartite motif containing 71 (TRIM71), mRNA. 422 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGCAGGTCCTGGAGGAGGGTA 0.617000 55 5 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9045750 9045750 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9045750C>T uc002mkp.3 - 4 36085 c.35881G>A c.(35881-35883)Gga>Aga p.G11961R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11963 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGACTCACTCCTTCTCCATGA 0.478000 88 6 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150828306 150828306 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:150828306C>T uc004fev.4 + 9 1171 c.839C>T c.(838-840)cCa>cTa p.P280L NM_173493 NP_775764 Q8IV76 PASD1_HUMAN Homo sapiens PAS domain containing 1 (PASD1), mRNA. 280 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CCTGAATCTCCAGGTAGGTAC 0.373000 43 5 0 0 1 0 0 ATP11C 286410 broad.mit.edu 37 X 138878534 138878534 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:138878534G>A uc004faz.3 - 11 1212 c.1113C>T c.(1111-1113)ttC>ttT p.F371F ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Silent_p.F371F NM_173694 NP_775965 Q8NB49 AT11C_HUMAN Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA. 371 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) AGGAGCCCAAGAATTTCTGCA 0.368000 30 3 0 0 1 0 0 ZNF2 7549 broad.mit.edu 37 2 95845936 95845936 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:95845936C>T uc002suf.3 + 3 655 c.193C>T c.(193-195)Caa>Taa p.Q65* ZNF2_uc002sug.3_Nonsense_Mutation_p.Q23*|ZNF2_uc010yue.2_Intron|ZNF2_uc010fhs.3_Intron NM_021088 NP_066574 Q9BSG1 ZNF2_HUMAN Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA. 65 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q65Q(1) endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 12 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) TGTGATTTTCCAATTGAAGAG 0.463000 124 11 0 0 1 0 0 SLC25A21 89874 broad.mit.edu 37 14 37153956 37153956 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:37153956C>T uc001wtz.2 - 7 1088 c.778G>A c.(778-780)Gaa>Aaa p.E260K SLC25A21_uc021rsf.1_Missense_Mutation_p.E260K NM_030631 NP_085134 Q9BQT8 ODC_HUMAN Homo sapiens solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 (SLC25A21), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 260 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) TACCCTTCTTCCTGATAGACT 0.393000 154 7 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318344 30318344 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:30318344C>T uc009xle.2 - 2 870 c.733G>A c.(733-735)Gaa>Aaa p.E245K KIAA1462_uc001iux.3_Missense_Mutation_p.E245K|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.E107K NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 245 p.T244A(1) breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ATGGGAATTTCCGTGCAACTC 0.458000 154 9 0 0 1 0 0 METTL16 79066 broad.mit.edu 37 17 2381128 2381128 + Silent SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:2381128T>A uc002fut.3 - 2 328 c.180A>T c.(178-180)ctA>ctT p.L60L METTL16_uc010cka.3_Non-coding_Transcript|METTL16_uc002fuu.4_Non-coding_Transcript|METTL16_uc002fuv.3_Silent_p.L60L|METTL16_uc010vqx.1_Non-coding_Transcript|METTL16_uc010vqy.1_5'UTR NM_024086 NP_076991 Q86W50 MET16_HUMAN Homo sapiens methyltransferase like 16 (METTL16), mRNA. 60 methyltransferase activity kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 19 AATCTTCCCTTAGGAGAGTAC 0.393000 117 17 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70995872 70995872 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:70995872G>A uc002ezr.3 - 37 6106 c.5955C>T c.(5953-5955)atC>atT p.I1985I NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 1986 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTTGGAAAATGATTTTTTCCA 0.433000 37 4 0 0 1 0 0 IL17RD 54756 broad.mit.edu 37 3 57144329 57144329 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:57144329G>A uc003dil.3 - 3 410 c.321C>T c.(319-321)ttC>ttT p.F107F IL17RD_uc003dik.3_Silent_p.F83F|IL17RD_uc010hna.3_5'UTR|IL17RD_uc011bex.1_5'UTR NM_017563 NP_060033 Q8NFM7 I17RD_HUMAN Homo sapiens interleukin 17 receptor D (IL17RD), mRNA. 107 Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) ATCCTTTCAGGAATTCGATGC 0.423000 12 3 0 0 1 0 0 FAM19A2 338811 broad.mit.edu 37 12 62148676 62148676 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:62148676C>T uc001sqw.3 - 2 1818 c.236G>A c.(235-237)cGa>cAa p.R79Q FAM19A2_uc001sqv.3_Non-coding_Transcript|FAM19A2_uc001sqx.3_Missense_Mutation_p.R79Q|FAM19A2_uc001sqy.3_Non-coding_Transcript NM_178539 NP_848634 Q8N3H0 F19A2_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA. 79 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) TGGAGCAGCTCGCGTGGTGCC 0.502000 39 5 0 0 1 0 0 SEMA4F 10505 broad.mit.edu 37 2 74902995 74902995 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:74902995C>T uc002sna.1 + 11 1713 c.1602C>T c.(1600-1602)ttC>ttT p.F534F SEMA4F_uc010ffq.1_Silent_p.F501F|SEMA4F_uc010ffr.1_Silent_p.F146F|SEMA4F_uc002snb.1_Silent_p.F146F|SEMA4F_uc002snc.1_Silent_p.F379F NM_004263 NP_004254 O95754 SEM4F_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA. 534 PSI. cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 CCTGGAGCTTCCGGCTGGATG 0.592000 68 11 0 0 1 0 0 NCR1 9437 broad.mit.edu 37 19 55423579 55423579 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:55423579C>T uc002qib.2 + 5 764 c.726C>T c.(724-726)ctC>ctT p.L242L NCR1_uc002qic.2_Silent_p.L241L|NCR1_uc002qie.2_Intron|NCR1_uc002qid.2_Silent_p.L147L|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Silent_p.L135L NM_004829 NP_004820 O76036 NCTR1_HUMAN Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA. 242 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity SWI/SNF complex|integral to plasma membrane receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) AGACGGGACTCCAGAAAGGTA 0.517000 136 24 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23235552 23235553 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:23235552_23235553CC>TT uc009vqj.1 + 12 2535_2536 c.2390_2391CC>TT c.(2389-2391)gcc>gTT p.A797V EPHB2_uc001bge.3_Missense_Mutation_p.A798V|EPHB2_uc001bgf.3_Missense_Mutation_p.A797V|EPHB2_uc010odu.2_Missense_Mutation_p.A739V NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 797 Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GCCCCGGAAGCCATCCAGTACC 0.589000 103 16 0 0 1 0 0 SERPINA9 327657 broad.mit.edu 37 14 94935574 94935574 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:94935574G>A uc001ydf.3 - 1 819 c.658C>T c.(658-660)Ctg>Ttg p.L220L SERPINA9_uc001yde.3_Silent_p.L120L|SERPINA9_uc010avc.3_Silent_p.L71L|SERPINA9_uc001ydg.3_Silent_p.L184L|SERPINA9_uc001ydh.1_Silent_p.L220L|SERPINA9_uc001ydi.1_Silent_p.L184L NM_175739 NP_783866 Q86WD7 SPA9_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA. 202 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) TGGTTCACCAGAACCATGGCC 0.388000 100 17 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126370525 126370525 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:126370525C>T uc003ifj.4 + 8 8354 c.8354C>T c.(8353-8355)tCc>tTc p.S2785F FAT4_uc011cgp.2_Missense_Mutation_p.S1083F|FAT4_uc003ifi.1_Missense_Mutation_p.S263F NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 2785 Cadherin 27. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCTGAAAATTCCCCCTTAGGA 0.363000 121 8 0 0 1 0 0 CTAGE4 100128553 broad.mit.edu 37 7 143882754 143882754 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:143882754C>T uc010lpc.3 + 0 2207 c.2158C>T c.(2158-2160)Cct>Tct p.P720S NM_198495 NP_940897 Q8IX94 CTGE4_HUMAN Homo sapiens CTAGE family, member 4 (CTAGE4), mRNA. 720 Pro-rich. integral to membrane endometrium(1)|ovary(2) 3 AAGAGGACCTCCTTTCCCCCC 0.532000 231 9 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99505667 99505667 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:99505667G>A uc001vnt.2 - 34 3999 c.3944C>T c.(3943-3945)tCt>tTt p.S1315F DOCK9_uc001vnw.2_Missense_Mutation_p.S1314F|DOCK9_uc021rlw.1_Missense_Mutation_p.S1314F|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.S1315F|DOCK9_uc010tip.1_Missense_Mutation_p.S2F|DOCK9_uc010tiq.1_Missense_Mutation_p.S293F NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA. 1315 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity p.M1314K(1) breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCTACCATCAGACATGCTCTT 0.368000 153 14 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73753508 73753508 + Missense_Mutation SNP C G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:73753508C>G uc002jpg.3 + 39 5528 c.5341C>G c.(5341-5343)Ctg>Gtg p.L1781V ITGB4_uc002jph.3_Missense_Mutation_p.L1711V|ITGB4_uc002jpi.4_Missense_Mutation_p.L1711V|ITGB4_uc002jpj.3_Missense_Mutation_p.L1764V NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 1781 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TGGGCTGACCCTGGGGGCCCA 0.652000 18 3 0 0 1 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22202121 22202121 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:22202121G>A uc003svg.3 - 12 1176 c.863C>T c.(862-864)tCa>tTa p.S288L RAPGEF5_uc011jyl.1_5'UTR NM_012294 NP_036426 Q92565 RPGF5_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA. 138 nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity p.I287V(1) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 CGGAACGTCTGAGTTTTCCTC 0.343000 50 8 0 0 1 0 0 SALL2 6297 broad.mit.edu 37 14 21993543 21993543 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:21993543G>A uc001wbe.3 - 1 601 c.319C>T c.(319-321)Ccc>Tcc p.P107S SALL2_uc010tly.2_Missense_Mutation_p.P105S|SALL2_uc010tlz.1_Missense_Mutation_p.P105S|SALL2_uc001wbf.3_Missense_Mutation_p.P105S|SALL2_uc010tma.1_Missense_Mutation_p.P107S|SALL2_uc001wbg.1_Missense_Mutation_p.P107S NM_005407 NP_005398 Q9Y467 SALL2_HUMAN Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA. 107 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) GGATCCGTGGGCACGGAGGAC 0.637000 82 13 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54914588 54914588 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:54914588G>A uc021smr.1 + 28 6164 c.6164G>A c.(6163-6165)gGa>gAa p.G2055E UNC13C_uc021sms.1_Missense_Mutation_p.G2057E|UNC13C_uc002acm.3_5'UTR NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 2057 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GCCACCCCAGGAACGGGAGAT 0.443000 65 5 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43907790 43907790 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:43907790C>T uc001cjk.2 + 54 7775 c.5165C>T c.(5164-5166)cCa>cTa p.P1722L NM_015284 NP_056099 Q5T011 SZT2_HUMAN Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA. 2621 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 TGGAGGAGACCAACACAGCAG 0.652000 56 5 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92191504 92191504 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:92191504C>T uc001xzs.1 - 2 228 c.88G>A c.(88-90)Gag>Aag p.E30K NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 30 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) AAGCGTTTCTCTGTATCATCT 0.289000 32 3 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38431605 38431605 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:38431605G>A uc003tgu.3 - 18 1838 c.1622C>T c.(1621-1623)cCt>cTt p.P541L AMPH_uc003tgv.3_Missense_Mutation_p.P499L|AMPH_uc003tgt.3_Missense_Mutation_p.P426L|AMPH_uc003tgw.1_Missense_Mutation_p.P564L|AMPH_uc010kxl.1_Non-coding_Transcript NM_001635 NP_001626 P49418 AMPH_HUMAN Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA. 541 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 GACCACCGAAGGAATGACCTT 0.572000 70 6 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34033348 34033348 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:34033348G>A uc001bxm.1 - 52 8402 c.8225C>T c.(8224-8226)cCt>cTt p.P2742L CSMD2_uc001bxn.1_Missense_Mutation_p.P2719L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2719 Sushi 18. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AATGGGCTCAGGAGTCCCACA 0.532000 30 9 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101156521 101156521 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:101156521C>T uc004ays.3 - 8 1774 c.1314G>A c.(1312-1314)aaG>aaA p.K438K NM_005458 NP_005449 O75899 GABR2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA. 438 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) ACTCTCCCACCTTCACCTCCC 0.572000 79 21 0 0 1 0 0 KRT86 3892 broad.mit.edu 37 12 52695783 52695783 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:52695783C>T uc010snq.2 + 1 216 c.83C>T c.(82-84)aCc>aTc p.T28I KRT86_uc009zmg.3_Missense_Mutation_p.T28I|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.T28I NM_002284 NP_002275 O43790 KRT86_HUMAN Homo sapiens keratin 86 (KRT86), mRNA. 28 Head. cytoskeleton organization keratin filament structural molecule activity breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(357;0.189) TGCTGCATCACCGCCGCCCCC 0.697000 39 4 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857458 9857458 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:9857458C>T uc010uym.2 - 13 4253 c.3943G>A c.(3943-3945)Gac>Aac p.D1315N GRIN2A_uc002czo.4_Missense_Mutation_p.D1315N|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1315 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CGTTCCCTGTCCTTGAGGCTT 0.512000 108 8 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114136197 114136197 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:114136197C>T uc001kzu.3 + 0 242 c.130C>T c.(130-132)Ccc>Tcc p.P44S ACSL5_uc001kzs.3_Intron|ACSL5_uc001kzt.3_Intron NM_016234 NP_976314 Q9ULC5 ACSL5_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA. 0 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) AGATGCGGCCCCCTCGCAGGG 0.607000 90 5 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152522759 152522759 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:152522759G>A uc021vrb.1 - 38 4905 c.4876C>T c.(4876-4878)Cac>Tac p.H1626Y NEB_uc002txu.3_Missense_Mutation_p.H1626Y|NEB_uc021vrc.1_Missense_Mutation_p.H1626Y|NEB_uc010fnx.3_Missense_Mutation_p.H1626Y|NEB_uc021vrd.1_Missense_Mutation_p.H1626Y NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 1626 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AGAGGTGTGTGGTACTTGGTC 0.473000 200 14 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171256768 171256768 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:171256768C>T uc002ufy.3 + 16 2005 c.1862C>T c.(1861-1863)tCc>tTc p.S621F MYO3B_uc002ufv.3_Missense_Mutation_p.S608F|MYO3B_uc010fqb.1_Missense_Mutation_p.S621F|MYO3B_uc002ufz.3_Missense_Mutation_p.S621F|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA. 621 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex ATP binding|actin binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GCAGCTATTTCCTCTCAACAT 0.403000 133 13 0 0 1 0 0 P2RX1 5023 broad.mit.edu 37 17 3801117 3801117 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:3801117C>T uc002fww.3 - 11 1632 c.1191G>A c.(1189-1191)agG>agA p.R397R NM_002558 NP_002549 P51575 P2RX1_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA. 397 platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 13 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) ATCAGGATGTCCTCATGTTCT 0.652000 63 6 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50315833 50315833 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:50315833C>T uc001jhf.2 - 1 292 c.263G>A c.(262-264)gGg>gAg p.G88E VSTM4_uc001jhh.2_Missense_Mutation_p.G88E NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA. 88 Ig-like. integral to membrane|plasma membrane p.G88W(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 GCTGAAATTCCCATAGTACTG 0.627000 64 7 0 0 1 0 0 CDX4 1046 broad.mit.edu 37 X 72673412 72673412 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:72673412C>T uc011mqk.2 + 1 562 c.562C>T c.(562-564)Ctg>Ttg p.L188L NM_005193 NP_005184 O14627 CDX4_HUMAN Homo sapiens caudal type homeobox 4 (CDX4), mRNA. 188 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) AAGATTGGAGCTGGAAAAGGA 0.403000 10 4 0 0 1 0 0 GFRAL 389400 broad.mit.edu 37 6 55198719 55198719 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:55198719G>A uc003pcm.1 + 2 379 c.293G>A c.(292-294)gGa>gAa p.G98E NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA. 98 integral to membrane receptor activity p.L97I(1) NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AAACTGCTTGGAAAAAAATGT 0.294000 118 8 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74005881 74005881 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:74005881G>A uc010wss.1 - 21 3699 c.3471C>T c.(3469-3471)atC>atT p.I1157I EVPL_uc002jqi.2_Silent_p.I1135I|EVPL_uc010wst.1_Silent_p.I605I NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1135 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CCTCCTTCACGATGACCTTGG 0.642000 44 6 0 0 1 0 0 IFT46 56912 broad.mit.edu 37 11 118425749 118425749 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:118425749G>A uc001pto.2 - 6 882 c.463C>T c.(463-465)Cct>Tct p.P155S IFT46_uc001ptp.2_Missense_Mutation_p.P104S NM_020153 NP_064538 Q9NQC8 IFT46_HUMAN Homo sapiens intraflagellar transport 46 homolog (Chlamydomonas) (IFT46), transcript variant 1, mRNA. 104 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 ATAAAATCAGGAATGAAAGGC 0.423000 109 8 0 0 1 0 0 SLC14A1 6563 broad.mit.edu 37 18 43316484 43316484 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:43316484C>T uc010dnk.3 + 6 924 c.702C>T c.(700-702)ctC>ctT p.L234L SLC14A1_uc002lbi.4_Silent_p.L46L|SLC14A1_uc010xcn.2_Silent_p.L178L|SLC14A1_uc002lbf.4_Silent_p.L178L|SLC14A1_uc002lbg.4_Intron|SLC14A1_uc010xco.2_Silent_p.L73L|SLC14A1_uc002lbh.4_Silent_p.L70L|SLC14A1_uc002lbj.4_Silent_p.L234L|SLC14A1_uc002lbk.4_Silent_p.L178L|SLC14A1_uc021ujg.1_Silent_p.L178L NM_001128588 NP_056949 Q13336 UT1_HUMAN Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA. 178 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 TCTTCACCCTCCCTTTCAACA 0.433000 130 8 0 0 1 0 0 DAAM2 23500 broad.mit.edu 37 6 39864652 39864652 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:39864652C>T uc003oow.3 + 19 2545 c.2406C>T c.(2404-2406)atC>atT p.I802I DAAM2_uc003oox.3_Silent_p.I802I NM_001201427 NP_001188356 Q86T65 DAAM2_HUMAN Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA. 802 FH2. actin cytoskeleton organization Rho GTPase binding|actin binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) TAGAGGTCATCCTAGCCATAG 0.612000 30 6 0 0 1 0 0 PLA2G12B 84647 broad.mit.edu 37 10 74695435 74695435 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:74695435G>A uc001jtf.1 - 3 595 c.528C>T c.(526-528)ccC>ccT p.P176P PLA2G12B_uc009xqt.1_Silent_p.P86P|PLA2G12B_uc010qjz.1_Silent_p.P175P NM_032562 NP_115951 Q9BX93 PG12B_HUMAN Homo sapiens phospholipase A2, group XIIB (PLA2G12B), mRNA. 176 lipid catabolic process extracellular region calcium ion binding|phospholipase A2 activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 9 Prostate(51;0.0198) TATTCATAAAGGGGCGGCAGC 0.502000 91 7 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51172972 51172972 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:51172972C>T uc021tif.1 - 1 3192 c.2870G>A c.(2869-2871)cGa>cAa p.R957Q SALL1_uc021tid.1_Missense_Mutation_p.R957Q|SALL1_uc021tie.1_Missense_Mutation_p.R1054Q|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 1054 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R1054Q(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGGCAGATCTCGCATCTGATG 0.473000 48 3 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53185177 53185177 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:53185177C>T uc001say.3 - 6 1414 c.1348G>A c.(1348-1350)Gag>Aag p.E450K NM_057088 NP_476429 P12035 K2C3_HUMAN Homo sapiens keratin 3 (KRT3), mRNA. 450 Coil 2.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity p.A449A(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 CCATGCTGCTCGGCCTCGGCA 0.612000 99 8 0 0 1 0 0 ZNF454 285676 broad.mit.edu 37 5 178391919 178391919 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:178391919C>T uc003mjo.2 + 4 815 c.514C>T c.(514-516)Caa>Taa p.Q172* ZNF454_uc010jkz.2_Nonsense_Mutation_p.Q172*|ZNF454_uc021yjc.1_Nonsense_Mutation_p.Q172* NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA. 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) TCAGGGATTTCAACCTAGCAA 0.413000 57 12 0 0 1 0 0 FAM5B 57795 broad.mit.edu 37 1 177249596 177249596 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:177249596G>A uc001glf.3 + 7 1596 c.1284G>A c.(1282-1284)ggG>ggA p.G428G FAM5B_uc001glg.3_Silent_p.G323G NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 428 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TCTACTGTGGGGAAAGCACCT 0.542000 100 8 0 0 1 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49791161 49791161 + Missense_Mutation SNP C G G rs137922552 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:49791161C>G uc001jgu.3 - 1 368 c.71G>C c.(70-72)cGg>cCg p.R24P ARHGAP22_uc001jgt.3_Missense_Mutation_p.R24P|ARHGAP22_uc010qgl.2_Missense_Mutation_p.R24P|ARHGAP22_uc010qgm.2_Missense_Mutation_p.R30P|ARHGAP22_uc001jgv.3_5'UTR NM_021226 NP_067049 Q7Z5H3 RHG22_HUMAN Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA. 24 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCCAGGGCTCCGGCTCTGCTC 0.637000 244 24 0 0 1 0 0 KRT15 3866 broad.mit.edu 37 17 39672454 39672454 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:39672454C>T uc002hwy.3 - 3 993 c.802G>A c.(802-804)Ggt>Agt p.G268S KRT15_uc002hwz.3_Missense_Mutation_p.G170S|KRT15_uc002hxa.3_Missense_Mutation_p.G103S|KRT15_uc002hxb.1_Missense_Mutation_p.G103S NM_002275 NP_002266 P19012 K1C15_HUMAN Homo sapiens keratin 15 (KRT15), mRNA. 268 Linker 12.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) AGGTCCACACCCGGTGCTGCG 0.622000 502 40 0 0 1 0 0 OAS3 4940 broad.mit.edu 37 12 113382387 113382387 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:113382387G>A uc001tug.3 + 2 654 c.567G>A c.(565-567)agG>agA p.R189R OAS3_uc001tuf.3_Silent_p.R189R NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA. 189 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|RNA binding|nucleotidyltransferase activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 AGCTGCGGAGGAACTTTGTGA 0.567000 81 8 0 0 1 0 0 ALPPL2 251 broad.mit.edu 37 2 233274432 233274432 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:233274432C>T uc002vss.4 + 10 1502 c.1449C>T c.(1447-1449)ttC>ttT p.F483F NM_031313 NP_112603 P10696 PPBN_HUMAN Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA. 483 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) TCATGGCCTTCGCCGCCTGCC 0.751000 21 3 0 0 1 0 0 LOC649330 649330 broad.mit.edu 37 1 12907865 12907865 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:12907865C>T uc010obf.2 - 1 504 c.278G>A c.(277-279)gGa>gAa p.G93E LOC649330_uc009vno.2_Missense_Mutation_p.G93E NM_001013631 NP_001013653 B7ZW38 B7ZW38_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA. 93 nucleic acid binding|nucleotide binding ACCTGCGTTTCCTCGGTTCAC 0.483000 169 6 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350306 100350306 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:100350306C>T uc003uwj.3 + 13 2743 c.2578C>T c.(2578-2580)Ccc>Tcc p.P860S ZAN_uc003uwk.3_Missense_Mutation_p.P860S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 860 66 X heptapeptide repeats (approximate) (mucin-like domain). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane 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) ACCCACCATCCCCACAGAAAA 0.488000 131 6 0 0 1 0 0 WBP2NL 164684 broad.mit.edu 37 22 42422880 42422880 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:42422880G>A uc003bbt.3 + 5 719 c.625G>A c.(625-627)Gga>Aga p.G209R WBP2NL_uc011apk.2_Missense_Mutation_p.G81R|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_Non-coding_Transcript NM_152613 NP_689826 Q6ICG8 WBP2L_HUMAN Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA. 209 10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich. egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding p.V208A(1) breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 CCCGCCTGTGGGATACAGAGC 0.622000 219 66 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481048 140481049 + Missense_Mutation DNP GA AG AG TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140481048_140481049GA>AG uc003lio.3 + 0 815_816 c.815_816GA>AG c.(814-816)gga>gAG p.G272E BC016751_uc003lin.3_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 272 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTAGATACAGGAAGTTTTGGGA 0.406000 108 10 0 0 1 0 0 CTIF 9811 broad.mit.edu 37 18 46383995 46383995 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:46383995C>T uc002ldd.3 + 11 1929 c.1570C>T c.(1570-1572)Ctt>Ttt p.L524F CTIF_uc002ldc.3_Missense_Mutation_p.L522F|CTIF_uc002lde.4_Missense_Mutation_p.L151F NM_001142397 NP_001135869 O43310 CTIF_HUMAN Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA. 522 MIF4G. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 AGATGCTGTCCTTTGCTGCTC 0.547000 128 14 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761187 92761187 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:92761187G>A uc003umh.1 - 4 5314 c.4098C>T c.(4096-4098)ttC>ttT p.F1366F SAMD9L_uc003umj.1_Silent_p.F1366F|SAMD9L_uc003umi.1_Silent_p.F1366F|SAMD9L_uc010lfb.1_Silent_p.F1366F|SAMD9L_uc003umk.1_Silent_p.F1366F|SAMD9L_uc010lfc.1_Silent_p.F1366F|SAMD9L_uc010lfd.1_Silent_p.F1366F|SAMD9L_uc022ahh.1_Silent_p.F1366F NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 1366 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GCTGCAGTAGGAAGGCATATT 0.383000 106 11 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37626154 37626154 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:37626154G>A uc003onu.1 - 2 1428 c.249C>T c.(247-249)ttC>ttT p.F83F NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA. 83 Ig-like 1. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 ATGTCTCCTGGAACTTGTCCG 0.657000 104 15 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60744152 60744152 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:60744152C>T uc002jad.3 + 4 1296 c.894C>T c.(892-894)atC>atT p.I298I NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN Homo sapiens mannose receptor, C type 2 (MRC2), mRNA. 298 C-type lectin 1. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CCCTGTGGATCGGCTTGAATG 0.642000 50 9 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136699707 136699707 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:136699707C>T uc003vtf.1 + 3 718 c.95C>T c.(94-96)tCc>tTc p.S32F CHRM2_uc003vtg.1_Missense_Mutation_p.S32F|CHRM2_uc003vti.1_Missense_Mutation_p.S32F|CHRM2_uc003vtm.1_Missense_Mutation_p.S32F|CHRM2_uc003vtj.1_Missense_Mutation_p.S32F|CHRM2_uc003vtk.1_Missense_Mutation_p.S32F|CHRM2_uc003vtl.1_Missense_Mutation_p.S32F|CHRM2_uc003vtn.1_Missense_Mutation_p.S32F|CHRM2_uc003vto.1_Missense_Mutation_p.S32F|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.S32F NM_001006630 NP_001006633 P08172 ACM2_HUMAN Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA. 32 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GTGGCTGGATCCCTCAGTTTG 0.423000 68 7 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120582780 120582780 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:120582780A>G uc001txo.3 - 39 5115 c.5102T>C c.(5101-5103)aTg>aCg p.M1701T NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 1701 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGTGTCTCCATCAGCCACGG 0.607000 77 6 0 0 1 0 0 TRAK1 22906 broad.mit.edu 37 3 42264536 42264536 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:42264536C>T uc003cky.3 + 15 2385 c.2169C>T c.(2167-2169)tcC>tcT p.S723S TRAK1_uc011azi.2_Silent_p.S702S NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA. 723 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 TGGCTGAGTCCTTCACTAACA 0.607000 93 9 0 0 1 0 0 ITGA1 3672 broad.mit.edu 37 5 52240815 52240815 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:52240815C>T uc003jou.3 + 26 3742 c.3328C>T c.(3328-3330)Cgg>Tgg p.R1110W ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.R641W NM_181501 NP_852478 P56199 ITA1_HUMAN Homo sapiens integrin, alpha 1 (ITGA1), mRNA. 1110 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GGGAGAACTTCGGAGTGAAAA 0.323000 199 8 0 0 1 0 0 B3GNT1 11041 broad.mit.edu 37 11 66114102 66114102 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:66114102G>A uc001ohr.3 - 0 1060 c.915C>T c.(913-915)gtC>gtT p.V305V BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank|TRNA_Ser_uc021qlw.1_5'Flank NM_006876 NP_006867 O43505 B3GN1_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1), mRNA. 305 poly-N-acetyllactosamine biosynthetic process integral to Golgi membrane N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 12 CCGGCAGGTTGACCCAGCGGG 0.627000 86 8 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55980371 55980371 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:55980371T>A uc003has.3 - 5 1022 c.720A>T c.(718-720)gaA>gaT p.E240D KDR_uc003hat.1_Missense_Mutation_p.E240D|KDR_uc011bzx.2_Missense_Mutation_p.E240D NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 240 Ig-like C2-type 3. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AGACAAGCTTTTCTCCAACAG 0.393000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 60 4 0 0 1 0 0 MMRN2 79812 broad.mit.edu 37 10 88696643 88696643 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:88696643C>T uc001kea.3 - 6 2834 c.2707G>A c.(2707-2709)Ggg>Agg p.G903R MMRN2_uc010qmn.2_Missense_Mutation_p.G546R NM_024756 NP_079032 Q9H8L6 MMRN2_HUMAN Homo sapiens multimerin 2 (MMRN2), mRNA. 903 C1q. extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 CTTCCACTCCCCTGCCCAGTG 0.557000 310 29 0 0 1 0 0 SFXN5 94097 broad.mit.edu 37 2 73188340 73188340 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:73188340G>A uc002siq.3 - 12 996 c.865C>T c.(865-867)Cct>Tct p.P289S SFXN5_uc002sip.3_Intron|SFXN5_uc002sio.3_Missense_Mutation_p.P181S|SFXN5_uc010yrc.2_Missense_Mutation_p.P138S|SFXN5_uc010fet.3_Silent_p.S221S|SFXN5_uc010fer.3_Intron|SFXN5_uc010feq.3_Missense_Mutation_p.P71S|SFXN5_uc010fes.3_Missense_Mutation_p.P71S NM_144579 NP_653180 Q8TD22 SFXN5_HUMAN Homo sapiens sideroflexin 5 (SFXN5), nuclear gene encoding mitochondrial protein, mRNA. 289 iron ion homeostasis integral to membrane cation transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 CTTTGCACAGGGAGGAGCAGC 0.682000 37 5 0 0 1 0 0 DCDC5 100506627 broad.mit.edu 37 11 30926546 30926546 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:30926546G>A uc009yjk.1 - 18 2683 c.2614C>T c.(2614-2616)Cgt>Tgt p.R872C DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.R531C|DCDC5_uc009yjj.2_Non-coding_Transcript NM_020869 NP_065920 Q6ZRR9 DCDC5_HUMAN Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA. 503 intracellular signal transduction NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1) 31 TTCCCATTACGATACCCATCC 0.458000 69 8 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12576152 12576152 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:12576152G>A uc002mtv.4 - 3 745 c.584C>T c.(583-585)cCt>cTt p.P195L ZNF709_uc002mtw.4_Missense_Mutation_p.P163L|ZNF709_uc002mtx.4_Missense_Mutation_p.P195L NM_152601 NP_689814 Q8N972 ZN709_HUMAN Homo sapiens zinc finger protein 709 (ZNF709), mRNA. 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 ACATTCATAAGGTTTCTCTCC 0.408000 90 8 0 0 1 0 0 FAM58A 92002 broad.mit.edu 37 X 152860004 152860004 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:152860004C>T uc011myr.2 - 4 528 c.417_splice c.e4+1 p.K139_splice FAM58A_uc011mys.2_Splice_Site_p.K139_splice NM_152274 NP_689487 Q8N1B3 FA58A_HUMAN Homo sapiens family with sequence similarity 58, member A (FAM58A), transcript variant 1, mRNA. 143 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCAGTATGTACCTTGTGTGGA 0.542000 66 18 0 0 1 0 0 MEOX2 4223 broad.mit.edu 37 7 15652141 15652141 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:15652141C>T uc003stc.3 - 2 1067 c.786G>A c.(784-786)gtG>gtA p.V262V NM_005924 NP_005915 P50222 MEOX2_HUMAN Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA. 262 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.V262M(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) TTCCCTTTTTCACATTCACCA 0.517000 126 15 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92844913 92844913 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:92844913C>T uc011khy.2 - 3 608 c.585G>A c.(583-585)gtG>gtA p.V195V HEPACAM2_uc003uml.3_Silent_p.V160V|HEPACAM2_uc010lff.3_Silent_p.V160V|HEPACAM2_uc003umm.3_Silent_p.V172V NM_198151 NP_937794 A8MVW5 HECA2_HUMAN Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA. 172 Ig-like C2-type 1. integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 TGCCCCCTTCCACATGGCATG 0.507000 52 5 0 0 1 0 0 LRRC31 79782 broad.mit.edu 37 3 169558057 169558057 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:169558057C>T uc003fgc.1 - 8 1437 c.1372G>A c.(1372-1374)Gac>Aac p.D458N LRRC31_uc010hwp.1_Missense_Mutation_p.D402N NM_024727 NP_079003 Q6UY01 LRC31_HUMAN Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA. 458 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) TAGCTCAGGTCCAGCTTTTGC 0.483000 49 3 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141812805 141812805 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:141812805C>T uc002tvj.1 - 9 2404 c.1432G>A c.(1432-1434)Gat>Aat p.D478N LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 478 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.D478N(2) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCATATGGATCGACTTCACAT 0.428000 TSP Lung(27;0.18) 41 3 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144874996 144874996 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:144874996G>A uc003yzp.1 - 29 4066 c.4059C>T c.(4057-4059)tcC>tcT p.S1353S SCRIB_uc003yzn.1_Silent_p.S62S|SCRIB_uc003yzo.1_Silent_p.S1353S NM_015356 NP_056171 Q14160 SCRIB_HUMAN Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA. 1353 activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction Scrib-APC-beta-catenin complex|cell-cell adherens junction protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GCTCCCGGAAGGACAGCTGCT 0.706000 34 6 0 0 1 0 0 SERPINB8 5271 broad.mit.edu 37 18 61654189 61654189 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:61654189C>T uc002ljv.3 + 6 971 c.802C>T c.(802-804)Ctt>Ttt p.L268F SERPINB8_uc002lju.3_Missense_Mutation_p.L268F|SERPINB8_uc010xex.2_Missense_Mutation_p.L86F NM_198833 NP_942130 P50452 SPB8_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA. 268 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) TCAAGTTTTCCTTCCCAGATT 0.398000 88 8 0 0 1 0 0 TRBV4-1 28617 broad.mit.edu 37 7 142013074 142013074 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142013074C>T uc003vxg.3 + 0 68 c.39C>T c.(37-39)ctC>ctT p.L13L TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; TTCTCTGTCTCCTGGGAGCAG 0.582000 81 12 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346903 48346903 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:48346903C>T uc010rhv.2 + 0 411 c.411C>T c.(409-411)atC>atT p.I137I NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA. 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 GTGTTGAGATCATTCTGCTCA 0.478000 185 9 0 0 1 0 0 CHRNB1 1140 broad.mit.edu 37 17 7350371 7350371 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:7350371G>A uc002ghb.3 + 4 404 c.363G>A c.(361-363)ggG>ggA p.G121G CHRNB1_uc010vty.2_Silent_p.G49G|CHRNB1_uc010vtz.1_5'UTR NM_000747 NP_000738 P11230 ACHB_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA. 121 behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine binding|receptor activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3) 23 Prostate(122;0.157) GCAATGATGGGAATTTTGACG 0.667000 103 12 0 0 1 0 0 C1orf65 164127 broad.mit.edu 37 1 223568504 223568504 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:223568504G>A uc001hoa.2 + 0 1790 c.1687G>A c.(1687-1689)Gag>Aag p.E563K NM_152610 NP_689823 Q8N715 CA065_HUMAN Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA. 563 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) GGGCATCAAGGAGGCCATTAA 0.532000 58 7 0 0 1 0 0 C9orf84 158401 broad.mit.edu 37 9 114490225 114490225 + Nonsense_Mutation SNP C A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:114490225C>A uc004bfr.3 - 10 1465 c.1330G>T c.(1330-1332)Gaa>Taa p.E444* C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Nonsense_Mutation_p.E405*|C9orf84_uc010mug.3_Nonsense_Mutation_p.E390* NM_173521 NP_775792 Q5VXU9 CI084_HUMAN Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA. 444 p.N444N(1) breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCTGGTACTTCTTTTGCCAGA 0.333000 28 3 0.0215528 0.0216132 1 1 0 GRM8 2918 broad.mit.edu 37 7 126249424 126249424 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:126249424G>A uc003vlr.2 - 6 1797 c.1486C>T c.(1486-1488)Cat>Tat p.H496Y GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.H496Y|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 496 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GCTTTTAGATGAAGCTGATTG 0.363000 HNSCC(24;0.065) 186 16 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91714906 91714906 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:91714906C>T uc003ulg.3 + 35 9155 c.8930C>T c.(8929-8931)tCa>tTa p.S2977L AKAP9_uc003ulf.3_Missense_Mutation_p.S2969L|AKAP9_uc003uli.3_Missense_Mutation_p.S2600L|AKAP9_uc003ulj.3_Missense_Mutation_p.S747L|AKAP9_uc003ulk.3_Missense_Mutation_p.S252L NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 2981 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport Golgi apparatus|centrosome|cytosol receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CAGCAGGTTTCAGAACCTTGG 0.428000 T BRAF papillary thyroid 42 5 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24135197 24135197 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:24135197G>A uc002dmd.3 + 8 1157 c.960G>A c.(958-960)aaG>aaA p.K320K PRKCB_uc002dme.3_Silent_p.K320K NM_212535 NP_997700 P05771 KPCB_HUMAN Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA. 320 B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CGGAAGAAAAGACGACCAACA 0.478000 55 6 0 0 1 0 0 OR5B3 441608 broad.mit.edu 37 11 58170223 58170223 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:58170223A>T uc010rkf.2 - 0 660 c.660T>A c.(658-660)ttT>ttA p.F220L NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA. 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) GGATGGTGATAAAAATGAATG 0.393000 41 3 0 0 1 0 0 LRRC58 116064 broad.mit.edu 37 3 120053861 120053861 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:120053861A>G uc003edr.2 - 2 851 c.755T>C c.(754-756)gTt>gCt p.V252A NM_001099678 NP_001093148 Q96CX6 LRC58_HUMAN Homo sapiens leucine rich repeat containing 58 (LRRC58), mRNA. 252 large_intestine(2)|lung(5) 7 GBM - Glioblastoma multiforme(114;0.147) TAAATCTCTAACAAAACGAAC 0.398000 25 3 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37465319 37465319 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:37465319C>T uc003aqt.1 - 15 1969 c.1907G>A c.(1906-1908)gGa>gAa p.G636E TMPRSS6_uc003aqs.1_Missense_Mutation_p.G645E NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA. 645 Peptidase S1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 GGACACCTCTCCAGGCCAGCG 0.672000 35 14 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105969 168105969 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:168105969G>A uc002udx.3 + 8 8156 c.8067G>A c.(8065-8067)caG>caA p.Q2689Q XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.Q2514Q|XIRP2_uc010fpq.3_Silent_p.Q2467Q|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2514 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAACACAACAGAAGAAGTATT 0.363000 79 12 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141796195 141796195 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:141796195G>A uc003vwy.3 + 41 5038 c.4984G>A c.(4984-4986)Gtc>Atc p.V1662I NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1662 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGCCTTCCTGGTCAGCCCTGT 0.582000 69 25 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41374853 41374853 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:41374853G>A uc001rmm.1 + 15 2060 c.1947G>A c.(1945-1947)tgG>tgA p.W649* CNTN1_uc001rmn.1_Nonsense_Mutation_p.W638* NM_001843 NP_001834 Q12860 CNTN1_HUMAN Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA. 649 Fibronectin type-III 1. Notch signaling pathway|axon guidance|cell adhesion anchored to membrane|membrane fraction|plasma membrane p.W649fs*1(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CAGATGACTGGAAAGATGCAA 0.363000 74 5 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111785798 111785798 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:111785798C>T uc001tsa.2 + 21 4284 c.4130C>T c.(4129-4131)cCt>cTt p.P1377L NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 1377 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CACCCGGACCCTTTAAGTTTT 0.622000 139 7 0 0 1 0 0 DDN 23109 broad.mit.edu 37 12 49390996 49390996 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:49390996C>T uc001rsv.1 - 1 1681 c.1663G>A c.(1663-1665)Gaa>Aaa p.E555K NM_015086 NP_055901 O94850 DEND_HUMAN Homo sapiens dendrin (DDN), mRNA. 555 Interaction with CD2AP and NPHS1 (By similarity). dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 AGGTTTACTTCGGGGGCCGGG 0.731000 54 3 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6182822 6182822 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:6182822A>T uc002mef.1 + 8 1194 c.967A>T c.(967-969)Att>Ttt p.I323F ACSBG2_uc002mee.1_Missense_Mutation_p.I136F|ACSBG2_uc002meg.1_Missense_Mutation_p.I323F|ACSBG2_uc002meh.1_Missense_Mutation_p.I323F|ACSBG2_uc002mei.1_Missense_Mutation_p.I273F|ACSBG2_uc010xiz.1_Missense_Mutation_p.I323F NM_030924 NP_112186 Q5FVE4 ACBG2_HUMAN Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA. 323 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AGTGCCTCAAATTTGGGAGAA 0.463000 33 4 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75039077 75039077 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:75039077C>T uc001dgg.3 - 13 2536 c.2317G>A c.(2317-2319)Gaa>Aaa p.E773K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 773 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCCATTGCTTCTTTCTTCTCC 0.473000 63 4 0 0 1 0 0 ZNF251 90987 broad.mit.edu 37 8 145947980 145947980 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:145947980C>T uc003zdv.4 - 4 1321 c.1065G>A c.(1063-1065)ggG>ggA p.G355G NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN Homo sapiens zinc finger protein 251 (ZNF251), mRNA. 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) TGAAGGCCTTCCCACAGTGAC 0.493000 44 6 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187541875 187541876 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:187541875_187541876GG>AA uc003izf.3 - 9 6052_6053 c.5864_5865CC>TT c.(5863-5865)tcc>tTT p.S1955F NM_005245 NP_005236 Q14517 FAT1_HUMAN Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA. 1955 Cadherin 17. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ATCTGCCATCGGAAGCTCTAAC 0.450000 HNSCC(5;0.00058) 75 4 0 0 1 0 0 EFEMP1 2202 broad.mit.edu 37 2 56097945 56097945 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:56097945G>A uc002rzi.3 - 10 1731 c.1230C>T c.(1228-1230)atC>atT p.I410I EFEMP1_uc002rzj.3_Silent_p.I410I|EFEMP1_uc010ypc.2_Silent_p.I272I NM_001039348 NP_001034438 Q12805 FBLN3_HUMAN Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA. 410 Mediates interaction with TIMP3. negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GTATCTGGAAGATGTCTGATG 0.433000 87 6 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21793142 21793142 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:21793142G>A uc001wag.3 + 13 2128 c.2128G>A c.(2128-2130)Gaa>Aaa p.E710K RPGRIP1_uc001wah.3_Missense_Mutation_p.E352K|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.E175K|RPGRIP1_uc001wak.3_Missense_Mutation_p.E185K|RPGRIP1_uc010aim.3_Missense_Mutation_p.E93K|RPGRIP1_uc001wal.3_Missense_Mutation_p.E69K|RPGRIP1_uc001wam.3_Missense_Mutation_p.E27K NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA. 710 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CATGGCCAGTGAACACAGCAC 0.512000 146 11 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138442555 138442555 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:138442555G>A uc003ihe.4 - 3 3423 c.3036C>T c.(3034-3036)ttC>ttT p.F1012F PCDH18_uc003ihf.4_Silent_p.F1004F|PCDH18_uc011cgz.2_Silent_p.F223F|PCDH18_uc003ihg.4_Silent_p.F791F|PCDH18_uc011cha.2_Silent_p.F192F NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 1012 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AGAGACGCTGGAACACACTGC 0.532000 48 7 0 0 1 0 0 RACGAP1 29127 broad.mit.edu 37 12 50392941 50392941 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:50392941C>T uc001rvt.2 - 10 1172 c.862G>A c.(862-864)Gac>Aac p.D288N RACGAP1_uc009zlm.1_Missense_Mutation_p.D288N|RACGAP1_uc001rvs.2_Missense_Mutation_p.D288N|RACGAP1_uc001rvu.2_Missense_Mutation_p.D288N NM_013277 NP_037409 Q9H0H5 RGAP1_HUMAN Homo sapiens Rac GTPase activating protein 1 (RACGAP1), transcript variant 1, mRNA. 288 blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle GTPase activator activity|alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|metal ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6) 14 GAAACAAAGTCATGCAGGCGC 0.413000 59 11 0 0 1 0 0 SRBD1 55133 broad.mit.edu 37 2 45778355 45778355 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:45778355G>A uc002rus.3 - 11 1660 c.1584C>T c.(1582-1584)ctC>ctT p.L528L SRBD1_uc010yoc.2_Silent_p.L47L NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA. 528 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process RNA binding|hydrolase activity, acting on ester bonds NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) TTGTTAAAAGGAGCTGACGAA 0.388000 46 4 0 0 1 0 0 OR2C3 81472 broad.mit.edu 37 1 247694920 247694920 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:247694920C>T uc021pmb.1 - 0 894 c.894G>A c.(892-894)gtG>gtA p.V298V C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.V298V NM_198074 NP_932340 Q8N628 OR2C3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA. 298 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) GGGCGCTCTTCACCTCCGTGT 0.532000 75 7 0 0 1 0 0 ATP5J2-PTCD1 100526740 broad.mit.edu 37 7 99022469 99022469 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:99022469G>A uc011kiw.2 - 6 1893 c.1833C>T c.(1831-1833)gcC>gcT p.A611A ATP5J2-PTCD1_uc003uqh.3_Silent_p.A562A NM_001198879 NP_001185808 B4DJ38 B4DJ38_HUMAN Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA. 611 GGCACCCGATGGCCAGGTTGC 0.627000 77 12 0 0 1 0 0 MCM3 4172 broad.mit.edu 37 6 52144205 52144205 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:52144205G>A uc003pan.1 - 4 834 c.724C>T c.(724-726)Cgt>Tgt p.R242C MCM3_uc011dwu.1_Missense_Mutation_p.R196C NM_002388 NP_002379 P25205 MCM3_HUMAN Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA. 242 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) GGAAGGCAACGGTAGGTTCCC 0.552000 59 7 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72055841 72055841 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:72055841C>T uc001xms.3 + 1 1613 c.1252C>T c.(1252-1254)Cgg>Tgg p.R418W SIPA1L1_uc001xmt.3_Missense_Mutation_p.R418W|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R418W|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R418W NM_015556 NP_056371 O43166 SI1L1_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA. 418 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TCCATATTTTCGGAATGAGAT 0.463000 44 5 0 0 1 0 0 DBC1 1620 broad.mit.edu 37 9 121929509 121929509 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:121929509C>T uc004bkc.2 - 7 2595 c.2139G>A c.(2137-2139)ggG>ggA p.G713G NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 713 cell cycle arrest|cell death cytoplasm protein binding p.P712L(1)|p.P712T(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GCTGGGGTTTCCCCGGGGCCA 0.552000 95 21 0 0 1 0 0 CDC45 8318 broad.mit.edu 37 22 19495026 19495026 + Silent SNP C T T rs138627266 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:19495026C>T uc011aha.2 + 11 1116 c.1038C>T c.(1036-1038)ttC>ttT p.F346F CDC45_uc021wlg.1_Non-coding_Transcript|CDC45_uc011agz.1_Silent_p.F309F|CDC45_uc002zpr.3_Silent_p.F314F|CDC45_uc002zpt.3_Silent_p.F268F NM_001178010 NP_001171481 O75419 CDC45_HUMAN Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA. 314 E -> Q (in Ref. 1; AAC67521). DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 TCCAGGAGTTCCTTGCAGACA 0.587000 90 9 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20055886 20055886 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:20055886C>T uc002wru.3 + 4 539 c.425C>T c.(424-426)tCc>tTc p.S142F C20orf26_uc010gcw.2_Missense_Mutation_p.S96F|C20orf26_uc010zse.2_Missense_Mutation_p.S142F|C20orf26_uc010zsf.1_Missense_Mutation_p.S142F NM_015585 NP_056400 Q8NHU2 CT026_HUMAN Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA. 142 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) ATCGTGCCATCCTACATGAGC 0.498000 88 6 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178408800 178408800 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:178408800G>A uc003mjr.3 - 9 2671 c.2492C>T c.(2491-2493)tCc>tTc p.S831F GRM6_uc003mjq.3_Missense_Mutation_p.S234F NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 831 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|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;0.245) CATGCCGAGGGACACCGAGGC 0.577000 218 9 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141526904 141526904 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:141526904G>A uc002tvj.1 - 34 6608 c.5636C>T c.(5635-5637)tCa>tTa p.S1879L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 1879 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATAAGAAATGATTCTATACC 0.363000 TSP Lung(27;0.18) 50 5 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106477677 106477677 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:106477677C>T uc001tlj.1 - 3 1924 c.544G>A c.(544-546)Gaa>Aaa p.E182K NM_014840 NP_055655 O60285 NUAK1_HUMAN Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA. 182 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 AGTATATTTTCCAGCTTCAAG 0.498000 80 6 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61623070 61623070 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:61623070C>T uc002jay.3 + 13 2872 c.2792C>T c.(2791-2793)cCa>cTa p.P931L KCNH6_uc010wpl.2_Missense_Mutation_p.P772L|KCNH6_uc010wpm.2_Missense_Mutation_p.P895L|KCNH6_uc002jaz.1_Missense_Mutation_p.P842L NM_030779 NP_110406 Q9H252 KCNH6_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA. 931 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) ACTCTGGCACCATCCTCAGAA 0.572000 135 15 0 0 1 0 0 RNF217 154214 broad.mit.edu 37 6 125397950 125397950 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:125397950C>T uc003pzr.3 + 3 1258 c.724C>T c.(724-726)Cgc>Tgc p.R242C RNF217_uc003pzs.3_Missense_Mutation_p.R185C|RNF217_uc003pzt.3_Non-coding_Transcript Q8TC41 RN217_HUMAN Homo sapiens ring finger protein 217 (RNF217), mRNA. 185 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) ATGCAAATATCGCTACCTCCC 0.438000 112 10 0 0 1 0 0 MS4A5 64232 broad.mit.edu 37 11 60201273 60201273 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:60201273C>T uc001npo.3 + 3 461 c.375C>T c.(373-375)gcC>gcT p.A125A NM_023945 NP_076434 Q9H3V2 MS4A5_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 5 (MS4A5), mRNA. 125 integral to membrane receptor activity large_intestine(7)|lung(7)|ovary(1)|skin(1) 16 TTCTTAGTGCCCTGGGAGCAA 0.373000 149 11 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55175228 55175228 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:55175228C>T uc002qgp.3 + 2 449 c.87C>T c.(85-87)ccC>ccT p.P29P LILRB4_uc002qgo.1_Silent_p.P70P|LILRB4_uc002qgq.3_Silent_p.P29P|LILRB4_uc010ers.1_Intron|LILRB4_uc010ert.3_Silent_p.P70P|LILRB4_uc010eru.3_Silent_p.P58P NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 29 Ig-like C2-type 1. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) TCCCCAAACCCACCCTCTGGG 0.622000 94 10 0 0 1 0 0 GLP1R 2740 broad.mit.edu 37 6 39025308 39025308 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:39025308C>T uc003ooj.4 + 2 296 c.236C>T c.(235-237)tCg>tTg p.S79L GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript NM_002062 NP_002053 P43220 GLP1R_HUMAN Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA. 79 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) GAGCCAGGCTCGTTCGTGAAT 0.622000 39 6 0 0 1 0 0 AV4S1 0 broad.mit.edu 37 14 22671208 22671208 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:22671208C>T uc021rpv.1 + 1 263 c.228C>T c.(226-228)atC>atT p.I76I TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc010ajm.2_Non-coding_Transcript Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 320. GTACCTTGATCCTGCACCGTG 0.522000 23 5 0 0 1 0 0 SLC16A13 201232 broad.mit.edu 37 17 6942021 6942021 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:6942021C>T uc002geh.3 + 2 1202 c.894C>T c.(892-894)ttC>ttT p.F298F NM_201566 NP_963860 Q7RTY0 MOT13_HUMAN Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA. 298 integral to membrane|plasma membrane symporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 TAGCCCTGTTCCCTGTAGCTC 0.642000 64 9 0 0 1 0 0 PDZD4 57595 broad.mit.edu 37 X 153069133 153069133 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:153069133G>A uc004fja.1 - 7 2253 c.2003C>T c.(2002-2004)aCc>aTc p.T668I PDZD4_uc004fiy.1_Missense_Mutation_p.T587I|PDZD4_uc004fiz.1_Missense_Mutation_p.T662I|PDZD4_uc004fix.2_Missense_Mutation_p.T566I|PDZD4_uc011mze.1_Missense_Mutation_p.T553I|PDZD4_uc022chy.1_Missense_Mutation_p.T41I NM_032512 NP_115901 Q76G19 PDZD4_HUMAN Homo sapiens PDZ domain containing 4 (PDZD4), mRNA. 662 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTCGTCGTCGGTCGTCATACC 0.682000 47 14 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79628925 79628925 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:79628925G>A uc001jzk.3 - 1 405 c.335C>T c.(334-336)cCc>cTc p.P112L DLG5_uc009xru.1_Non-coding_Transcript|AK125684_uc001jzm.1_3'UTR NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA. 112 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TGAGTCTGAGGGCATGGTGGA 0.597000 97 6 0 0 1 0 0 DSTYK 25778 broad.mit.edu 37 1 205138587 205138587 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:205138587A>G uc001hbw.3 - 2 1092 c.1028T>C c.(1027-1029)tTg>tCg p.L343S DSTYK_uc001hbx.3_Missense_Mutation_p.L343S|DSTYK_uc001hby.1_Intron NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA. 343 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 AAATGTGCTCAAGTGTCTCAG 0.527000 92 6 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79324450 79324450 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:79324450C>T uc010mpk.3 - 7 2864 c.2740G>A c.(2740-2742)Gaa>Aaa p.E914K PRUNE2_uc022bih.1_Missense_Mutation_p.E736K NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 914 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCTACCTTTTCATATACCTTG 0.398000 143 16 0 0 1 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39357683 39357683 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:39357683G>A uc003awn.2 + 2 636 c.466G>A c.(466-468)Gat>Aat p.D156N APOBEC3B_uc011aob.1_Missense_Mutation_p.D138N|APOBEC3B_uc011aoc.1_Missense_Mutation_p.D156N NM_145699 NP_663745 Q9UH17 ABC3B_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (APOBEC3A), transcript variant 1, mRNA. 339 negative regulation of transposition RNA binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 13 Melanoma(58;0.04) CATGACCTACGATGGTAAGAA 0.562000 80 8 0 0 1 0 0 CYP8B1 1582 broad.mit.edu 37 3 42916897 42916897 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:42916897C>T uc003cmh.3 - 0 737 c.412G>A c.(412-414)Gat>Aat p.D138N CCBP2_uc003cmg.3_Intron NM_004391 NP_004382 Q9UNU6 CP8B1_HUMAN Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA. 138 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) TCATTAAGATCCTTCAAGCCA 0.517000 121 16 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140724001 140724001 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140724001C>T uc003ljm.2 + 0 401 c.401C>T c.(400-402)cCa>cTa p.P134L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.P134L NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 134 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTAATTTCCCAACAGAGGAA 0.333000 29 4 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7720015 7720015 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:7720015T>C uc002giu.1 + 62 9870 c.9856T>C c.(9856-9858)Ttg>Ctg p.L3286L DNAH2_uc010cnm.1_Silent_p.L224L NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 3286 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CGTGTCGGGGTTGGCTGGCGA 0.562000 98 9 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9060189 9060189 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9060189G>A uc002mkp.3 - 2 27461 c.27257C>T c.(27256-27258)cCt>cTt p.P9086L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9088 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTAGCCCCAGGAGAACCTGT 0.468000 111 8 0 0 1 0 0 LECT1 11061 broad.mit.edu 37 13 53307360 53307360 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:53307360G>A uc001vhf.2 - 2 459 c.348C>T c.(346-348)ttC>ttT p.F116F LECT1_uc001vhg.2_Silent_p.F116F|LECT1_uc001vhh.2_Silent_p.F143F NM_007015 NP_008946 O75829 LECT1_HUMAN Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA. 116 BRICHOS. F -> L (in dbSNP:rs3742298). cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) TTACATTCTGGAAATCATTAA 0.408000 142 11 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29654799 29654799 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:29654799C>T uc002hgg.3 + 37 5934 c.5551C>T c.(5551-5553)Cct>Tct p.P1851S NF1_uc002hgh.3_Missense_Mutation_p.P1830S|NF1_uc002hgi.1_Missense_Mutation_p.P863S|NF1_uc010cso.3_Missense_Mutation_p.P39S NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 1851 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AAAAGATGTCCCTGGGACACT 0.458000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 103 15 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43469811 43469811 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:43469811G>A uc002lbm.3 - 27 5004 c.4904C>T c.(4903-4905)cCa>cTa p.P1635L EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.P189L|EPG5_uc002lbn.2_Missense_Mutation_p.P510L NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA. 1635 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 ATTAAGTGATGGTGGTTTAGC 0.378000 101 10 0 0 1 0 0 GOLGA8IP 283796 broad.mit.edu 37 15 23261109 23261109 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:23261109G>A uc001yvh.1 + 8 1083 c.541G>A c.(541-543)Gag>Aag p.E181K DQ582939_uc021sfm.1_5'Flank|DQ578838_uc021sfn.1_5'Flank|DQ588973_uc001yvl.3_5'Flank Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA. endometrium(1)|lung(2)|prostate(1) 4 AATGTCGCAGGAGGTGAGATC 0.478000 134 19 0 0 1 0 0 SCAF11 9169 broad.mit.edu 37 12 46320978 46320978 + Nonsense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:46320978T>A uc001rox.3 - 10 2793 c.2506A>T c.(2506-2508)Aag>Tag p.K836* SCAF11_uc001row.3_Nonsense_Mutation_p.K521*|SCAF11_uc001roy.1_Nonsense_Mutation_p.K910* NM_004719 NP_004710 Q99590 SCAFB_HUMAN Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA. 836 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 GACTCATTCTTAGGAGATGGT 0.478000 90 8 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28728487 28728487 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:28728487A>T uc002kwn.3 - 5 1008 c.746T>A c.(745-747)tTt>tAt p.F249Y DSC1_uc002kwm.3_Missense_Mutation_p.F249Y NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 249 Cadherin 2. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) AGGCACAGTAAAGATAGTCAC 0.353000 160 18 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24789026 24789026 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:24789026G>A uc001wow.3 - 20 3074 c.2655C>T c.(2653-2655)ttC>ttT p.F885F ADCY4_uc010toh.2_Silent_p.F571F|ADCY4_uc001wox.3_Silent_p.F885F|ADCY4_uc001woy.3_Silent_p.F885F NM_001198568 NP_001185497 Q8NFM4 ADCY4_HUMAN Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA. 885 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane ATP binding|adenylate cyclase activity|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) ATTCAGAGTAGAACTCCTTGA 0.488000 88 5 0 0 1 0 0 RASL12 51285 broad.mit.edu 37 15 65351727 65351728 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:65351727_65351728CC>TT uc002aoi.1 - 2 404_405 c.189_190GG>AA c.(187-192)gtggac>gtAAac p.D64N RASL12_uc002aoj.1_Missense_Mutation_p.D45N|RASL12_uc010uir.1_Missense_Mutation_p.D53N NM_016563 NP_057647 Q9NYN1 RASLC_HUMAN Homo sapiens RAS-like, family 12 (RASL12), mRNA. 64 small GTPase mediated signal transduction membrane GTP binding|GTPase activity lung(1)|ovary(1)|skin(1)|urinary_tract(1) 4 GGCTGGTGGTCCACAGTCTCCT 0.525000 66 5 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681026 100681027 + Missense_Mutation DNP GC TG TG TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:100681026_100681027GC>TG uc003uxp.1 + 2 6382_6383 c.6329_6330GC>TG c.(6328-6330)agc>aTG p.S2110M MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2110 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ATACCTCTCAGCACCACGCCGG 0.490000 421 21 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55260515 55260515 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:55260515G>A uc003tqk.3 + 21 2928 c.2682G>A c.(2680-2682)caG>caA p.Q894Q EGFR_uc022adm.1_Silent_p.Q894Q|EGFR_uc010kzg.2_Silent_p.Q849Q|EGFR_uc022adn.1_Silent_p.Q849Q|EGFR_uc011kco.2_Silent_p.Q841Q NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 894 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ATACCCACCAGAGTGATGTCT 0.413000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 114 16 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43439598 43439598 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:43439598C>T uc002ovl.4 - 2 487 c.385G>A c.(385-387)Ggg>Agg p.G129R PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron NM_002783 NP_002774 Q13046 PSG7_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA. 130 Ig-like V-type. female pregnancy extracellular region Prostate(69;0.00682) CCTCCAGTCCCATCACCTCGC 0.488000 330 63 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94129654 94129654 + Missense_Mutation SNP C G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:94129654C>G uc001pet.2 - 1 596 c.424G>C c.(424-426)Ggc>Cgc p.G142R NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA. 142 integral to membrane|plasma membrane neuropeptide Y receptor activity p.K141N(1) NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TGGCACATGCCCTTCCCAAAT 0.552000 85 7 0 0 1 0 0 ZNF14 7561 broad.mit.edu 37 19 19822875 19822875 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:19822875G>A uc002nnk.1 - 3 1369 c.1215C>T c.(1213-1215)tcC>tcT p.S405S NM_021030 NP_066358 P17017 ZNF14_HUMAN Homo sapiens zinc finger protein 14 (ZNF14), mRNA. 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) GTTCTCGAAGGGAACTTGAAA 0.378000 77 5 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41040210 41040210 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:41040210G>A uc002ony.3 + 19 4405 c.4319G>A c.(4318-4320)gGa>gAa p.G1440E SPTBN4_uc002onx.3_Missense_Mutation_p.G1440E|SPTBN4_uc002onz.3_Missense_Mutation_p.G1440E|SPTBN4_uc010egx.3_Missense_Mutation_p.G183E|SPTBN4_uc010egy.1_Missense_Mutation_p.G116E|SPTBN4_uc002ooa.3_Missense_Mutation_p.G116E|SPTBN4_uc010egz.1_Missense_Mutation_p.G116E NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 1440 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GACCCTGGAGGAGACCTGGCC 0.587000 61 4 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 11001473 11001473 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:11001473C>T uc002daj.4 + 10 2260 c.2127C>T c.(2125-2127)ttC>ttT p.F709F CIITA_uc002dai.4_Silent_p.F708F|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Silent_p.F708F|CIITA_uc002dah.2_Silent_p.F660F|CIITA_uc010bup.1_Intron NM_000246 NP_000237 P33076 C2TA_HUMAN Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA. 708 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 AGCTGGCCTTCCCCAGCTTCC 0.622000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 91 11 0 0 1 0 0 LMNB2 84823 broad.mit.edu 37 19 2433865 2433865 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:2433865G>A uc002lvy.3 - 7 1468 c.1381C>T c.(1381-1383)Ctg>Ttg p.L461L NM_032737 NP_116126 Q03252 LMNB2_HUMAN Homo sapiens lamin B2 (LMNB2), mRNA. 461 Tail. nuclear inner membrane structural molecule activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 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) TTGCCCTCCAGGTCGATCTCC 0.662000 123 7 0 0 1 0 0 CDS1 1040 broad.mit.edu 37 4 85555012 85555012 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:85555012C>T uc011ccv.2 + 6 1140 c.642C>T c.(640-642)ttC>ttT p.F214F CDS1_uc010ike.1_Silent_p.F18F NM_001263 NP_001254 Q92903 CDS1_HUMAN Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA. 214 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity p.F214F(2) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) ATTAACAGTTCGCATGGACTC 0.393000 69 7 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113988098 113988098 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:113988098C>T uc003ynu.3 - 6 1469 c.1310G>A c.(1309-1311)aGa>aAa p.R437K CSMD3_uc003ynt.3_Missense_Mutation_p.R397K|CSMD3_uc011lhx.2_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 437 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTCTTTAGTTCTTTCTATCTG 0.423000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 96 8 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553802 140553802 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140553802G>A uc003lit.3 + 0 1560 c.1386G>A c.(1384-1386)gaG>gaA p.E462E NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 462 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGTCCGTGAGAACAACAGCC 0.612000 245 12 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82453651 82453651 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:82453651C>T uc003uhx.2 - 18 14786 c.14497G>A c.(14497-14499)Gat>Aat p.D4833N PCLO_uc003uhv.2_Missense_Mutation_p.D4833N|PCLO_uc003uht.1_Missense_Mutation_p.D275N|PCLO_uc003uhu.1_Missense_Mutation_p.D254N NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4695 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGCCATGATCAATGCTTTCA 0.438000 61 4 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63953993 63953993 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:63953993G>A uc002amp.3 - 44 9277 c.9129C>T c.(9127-9129)taC>taT p.Y3043Y NM_003922 NP_003913 Q15751 HERC1_HUMAN Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA. 3043 protein modification process|transport Golgi apparatus|cytosol|membrane ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity p.Y3043*(3) 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 TCATGGCTAAGTACTTCTCCC 0.453000 95 7 0 0 1 0 0 CRHR1 1394 broad.mit.edu 37 17 43911182 43911182 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:43911182C>T uc010dap.3 + 11 1384 c.1119C>T c.(1117-1119)ttC>ttT p.F373F CRHR1_uc010wjx.2_Silent_p.F169F|CRHR1_uc002ijp.3_Intron|CRHR1_uc002ijm.3_Silent_p.F344F|CRHR1_uc002ijn.3_Silent_p.F304F|CRHR1_uc010dar.3_Silent_p.F344F|CRHR1_uc010dao.3_Silent_p.F243F|CRHR1_uc010daq.3_Silent_p.F169F|CRHR1_uc021tyu.1_Silent_p.F169F NM_001145146 NP_001138618 P34998 CRFR1_HUMAN Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA. 373 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) GGGTCGTCTTCATCTACTTCA 0.587000 146 14 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906683 13906683 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:13906683C>T uc001rbt.2 - 2 757 c.578G>A c.(577-579)aGc>aAc p.S193N NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 193 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCCCACAAAGCTATTCTCAAT 0.473000 71 5 0 0 1 0 0 LYPD3 27076 broad.mit.edu 37 19 43965868 43965868 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:43965868G>A uc002owl.1 - 4 784 c.676C>T c.(676-678)Cgc>Tgc p.R226C LYPD3_uc002owm.3_3'UTR NM_014400 NP_055215 O95274 LYPD3_HUMAN Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA. 226 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) GTCTTGTTGCGGAGGTCAGAG 0.597000 172 7 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22012526 22012526 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:22012526G>A uc001rfh.3 - 19 2519 c.2499C>T c.(2497-2499)gtC>gtT p.V833V ABCC9_uc001rfi.1_Silent_p.V833V NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 833 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.I832V(1) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTACCAAAAAGACAATGTTGG 0.428000 115 9 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74007750 74007750 + Splice_Site SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:74007750C>T uc010wss.1 - 21 2863 c.2635_splice c.e21-1 p.E879_splice EVPL_uc002jqi.2_Splice_Site_p.E857_splice|EVPL_uc010wst.1_Splice_Site_p.E327_splice NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 857 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GGTTCTTCTCCTGGAGAAGGC 0.567000 32 4 0 0 1 0 0 GPR156 165829 broad.mit.edu 37 3 119900153 119900153 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:119900153G>A uc011bjf.2 - 6 1132 c.752C>T c.(751-753)tCc>tTc p.S251F GPR156_uc011bjg.2_Missense_Mutation_p.S247F NM_153002 NP_694547 Q8NFN8 GP156_HUMAN Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA. 251 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) CACAGGAGGGGAGCTGACATG 0.562000 81 5 0 0 1 0 0 RFTN2 130132 broad.mit.edu 37 2 198460726 198460726 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:198460726G>A uc002uuo.4 - 7 1624 c.1222C>T c.(1222-1224)Caa>Taa p.Q408* NM_144629 NP_653230 Q52LD8 RFTN2_HUMAN Homo sapiens raftlin family member 2 (RFTN2), mRNA. 408 plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3) 30 TCTGGTGTTTGAGCAGCTGAA 0.338000 79 5 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156136174 156136174 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:156136174G>A uc003ioq.3 + 1 1572 c.1083G>A c.(1081-1083)aaG>aaA p.K361K NPY2R_uc003ior.3_Silent_p.K361K|NPY2R_uc021xtm.1_Silent_p.K361K NM_000910 NP_000901 P49146 NPY2R_HUMAN Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA. 361 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity p.K361T(1)|p.K361R(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) AGGCTAAAAAGAACCTGGAGG 0.483000 78 4 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160793296 160793296 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:160793296G>A uc001fwu.3 + 7 1590 c.1540G>A c.(1540-1542)Gga>Aga p.G514R LY9_uc001fwv.3_Splice_Site_p.G500_splice|LY9_uc001fww.3_Missense_Mutation_p.G424R|LY9_uc001fwy.1_Splice_Site_p.G312_splice|LY9_uc001fwz.3_Splice_Site_p.G152_splice NM_002348 NP_002339 Q9HBG7 LY9_HUMAN Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA. 514 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GCTCTCCCAAGGATATGAGAA 0.542000 39 3 0 0 1 0 0 SLC15A3 51296 broad.mit.edu 37 11 60709553 60709553 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:60709553G>A uc001nqn.2 - 3 1295 c.1061C>T c.(1060-1062)cCg>cTg p.P354L SLC15A3_uc001nqo.2_Missense_Mutation_p.P354L NM_016582 NP_057666 Q8IY34 S15A3_HUMAN Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA. 354 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2) 17 GATGTTGGCCGGGTTGGCTGG 0.572000 234 23 0 0 1 0 0 TEX30 93081 broad.mit.edu 37 13 103421788 103421788 + Missense_Mutation SNP C G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:103421788C>G uc001vpo.3 - 2 297 c.119G>C c.(118-120)gGa>gCa p.G40A TEX30_uc001vpn.3_5'UTR NM_138779 NP_620134 Q5JUR7 CM027_HUMAN Homo sapiens chromosome 13 open reading frame 27 (C13orf27), mRNA. 40 lung(1)|urinary_tract(1) 2 ATTCATATCTCCTGATGCTCC 0.348000 66 4 0 0 1 0 0 SLC38A3 10991 broad.mit.edu 37 3 50255384 50255384 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:50255384C>T uc003cyn.4 + 10 1029 c.888C>T c.(886-888)ttC>ttT p.F296F SLC38A3_uc011bdl.2_Silent_p.F272F|SLC38A3_uc011bdm.2_Silent_p.F228F NM_006841 NP_006832 Q99624 S38A3_HUMAN Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA. 297 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) CCTTCGCCTTCGTCTGCCACC 0.617000 70 4 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247751844 247751844 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:247751844G>A uc010pyy.2 + 0 183 c.183G>A c.(181-183)ccG>ccA p.P61P NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA. 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.017) TTCATATGCCGATGTATTTCT 0.433000 108 4 0 0 1 0 0 EPC1 80314 broad.mit.edu 37 10 32594746 32594746 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:32594746T>C uc001iwg.1 - 1 537 c.267A>G c.(265-267)atA>atG p.I89M EPC1_uc001iwi.3_Missense_Mutation_p.I39M|EPC1_uc009xlt.2_Missense_Mutation_p.I39M|EPC1_uc001iwh.1_Missense_Mutation_p.I89M NM_025209 NP_079485 Q9H2F5 EPC1_HUMAN Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA. 89 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nuclear membrane breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) CCCCAGGATATATAGACTCAT 0.378000 64 5 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6085342 6085342 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:6085342C>T uc001qnn.1 - 42 7622 c.7372G>A c.(7372-7374)Gat>Aat p.D2458N VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 2458 VWFC 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) ATCACGGCATCCTCCATGTCG 0.627000 108 11 0 0 1 0 0 LAG3 3902 broad.mit.edu 37 12 6883975 6883975 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:6883975C>T uc001qqt.4 + 3 1075 c.726C>T c.(724-726)atC>atT p.I242I LAG3_uc001qqs.3_Silent_p.I242I|LAG3_uc001qqu.3_Silent_p.I72I NM_002286 NP_002277 P18627 LAG3_HUMAN Homo sapiens lymphocyte-activation gene 3 (LAG3), mRNA. 242 Ig-like C2-type 1. integral to membrane MHC class II protein binding|antigen binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GGGGCTGCATCCTCACCTACA 0.572000 107 15 0 0 1 0 0 IWS1 55677 broad.mit.edu 37 2 128261059 128261059 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:128261059G>A uc002ton.2 - 3 1616 c.1313C>T c.(1312-1314)tCt>tTt p.S438F IWS1_uc010yzl.1_Non-coding_Transcript|BC022892_uc002too.1_5'Flank NM_017969 NP_060439 Q96ST2 IWS1_HUMAN Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA. 438 Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) CTCACTGTCAGATGCTATGGT 0.433000 97 10 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39923647 39923647 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:39923647C>T uc002hxq.2 - 4 1170 c.893G>A c.(892-894)gGc>gAc p.G298D JUP_uc010wfs.2_Missense_Mutation_p.G298D|JUP_uc002hxr.2_Missense_Mutation_p.G298D|JUP_uc002hxs.2_Missense_Mutation_p.G298D NM_021991 NP_068831 P14923 PLAK_HUMAN Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA. 298 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity p.Y297Y(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) CTCCTGGTTGCCGTAGGCCAG 0.647000 74 5 0 0 1 0 0 CASP14 23581 broad.mit.edu 37 19 15164636 15164636 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:15164636G>A uc010dzv.2 + 3 482 c.270G>A c.(268-270)ggG>ggA p.G90G NM_012114 NP_036246 P31944 CASPE_HUMAN Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA. 90 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 TGGCTCACGGGAGGGAAGGCT 0.557000 87 7 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126242291 126242291 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:126242291C>T uc003ifj.4 + 0 4725 c.4725C>T c.(4723-4725)ttC>ttT p.F1575F NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 1575 Cadherin 15. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAGACACCTTCATTGTTGATC 0.458000 154 7 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 214012511 214012511 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:214012511C>T uc002vem.3 - 2 229 c.60G>A c.(58-60)agG>agA p.R20R IKZF2_uc010fuu.3_Silent_p.R20R|IKZF2_uc002vej.3_5'UTR|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Silent_p.R20R|IKZF2_uc002vel.3_5'UTR|IKZF2_uc010fuw.3_5'UTR|IKZF2_uc010fux.3_5'UTR|IKZF2_uc010fuy.3_Silent_p.R20R|IKZF2_uc002ven.3_Silent_p.R20R NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA. 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TGGAGTGCTCCCTTTCGGGTG 0.388000 218 21 0 0 1 0 0 LLGL1 3996 broad.mit.edu 37 17 18138547 18138547 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:18138547C>T uc002gsp.3 + 9 1266 c.1205C>T c.(1204-1206)gCc>gTc p.A402V NM_004140 NP_004131 Q15334 L2GL1_HUMAN Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA. 402 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) GCCCACGTGGCCAGTGTCCCC 0.682000 35 4 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128862045 128862045 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:128862045C>T uc003kvb.1 + 3 964 c.964C>T c.(964-966)Cct>Tct p.P322S ADAMTS19_uc003kvc.1_Non-coding_Transcript NM_133638 NP_598377 Q8TE59 ATS19_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA. 322 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.P322H(1) NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ATACAAATTACCTCAAGAATA 0.393000 40 3 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298818 107298818 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:107298818G>A uc004bcb.1 - 0 277 c.277C>T c.(277-279)Ctg>Ttg p.L93L NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 AGGTTGCCCAGGAAGAAGTAC 0.398000 44 6 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14755604 14755604 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:14755604C>T uc003byy.3 + 7 1703 c.1251C>T c.(1249-1251)ttC>ttT p.F417F C3orf20_uc003byz.3_Silent_p.F295F|C3orf20_uc003bza.3_Silent_p.F295F|C3orf20_uc003bzb.1_5'UTR NM_032137 NP_001171887 Q8ND61 CC020_HUMAN Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA. 417 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 TACCTGGATTCTCCTTGCTGG 0.498000 74 7 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363921 22363921 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:22363921C>T uc002nqs.1 - 2 916 c.598G>A c.(598-600)Gaa>Aaa p.E200K NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 200 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CCACATTCTTCACATTTGTAG 0.363000 76 5 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117307940 117307940 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:117307940C>T uc001prh.1 - 25 4800 c.4798G>A c.(4798-4800)Gaa>Aaa p.E1600K NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 1540 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TCTCGCAGTTCCGTCAGAAAC 0.652000 156 6 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72067053 72067053 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:72067053C>T uc004ahh.2 - 8 2229 c.1953G>A c.(1951-1953)tcG>tcA p.S651S NM_001163 NP_001154 Q02410 APBA1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA. 651 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TACAGTTTTCCGACTTGGAGA 0.532000 183 18 0 0 1 0 0 MRPL2 51069 broad.mit.edu 37 6 43023883 43023883 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:43023883G>A uc003ots.1 - 3 579 c.456C>T c.(454-456)atC>atT p.I152I CUL7_uc003otq.3_5'Flank|CUL7_uc011dvb.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.2_Silent_p.I152I NM_015950 NP_057034 Q5T653 RM02_HUMAN Homo sapiens mitochondrial ribosomal protein L2 (MRPL2), nuclear gene encoding mitochondrial protein, mRNA. 152 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2) 9 Ovarian(999;0.0014) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442) BRCA - Breast invasive adenocarcinoma(397;0.0026) TTTCTGTGGCGATGATCCAGC 0.552000 161 12 0 0 1 0 0 KRT5 3852 broad.mit.edu 37 12 52910459 52910459 + Silent SNP G A A rs60062350 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:52910459G>A uc001san.3 - 6 1564 c.1401C>T c.(1399-1401)atC>atT p.I467I KRT5_uc009zmh.3_Silent_p.I467I NM_000424 NP_000415 P13647 K2C5_HUMAN Homo sapiens keratin 5 (KRT5), mRNA. 467 Coil 2.|Rod. I -> T (in DM-EBS). epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) GGTAAGTGGCGATCTCCACGT 0.587000 271 21 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43411107 43411107 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:43411107C>T uc002ovj.1 - 4 1306 c.1207G>A c.(1207-1209)Gaa>Aaa p.E403K PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.E243K|PSG4_uc002ovg.1_Missense_Mutation_p.E403K NM_002782 NP_002773 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA. 404 Ig-like C2-type 3. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) TTGGAGATTTCCTTGCCAGTG 0.448000 256 40 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39085890 39085890 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:39085890C>T uc002rrf.3 - 5 1599 c.1500G>A c.(1498-1500)aaG>aaA p.K500K DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Silent_p.K500K NM_198963 NP_945314 Q6P158 DHX57_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA. 500 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) AAATCTTTTTCTTAAGGTTCA 0.403000 95 5 0 0 1 0 0 ANKRD46 157567 broad.mit.edu 37 8 101540168 101540168 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:101540168G>A uc003yjo.1 - 4 684 c.375C>T c.(373-375)atC>atT p.I125I ANKRD46_uc003yjm.3_Silent_p.I125I|ANKRD46_uc003yjn.1_Silent_p.I125I|ANKRD46_uc003yjp.1_Silent_p.I125I NM_198401 NP_940683 Q86W74 ANR46_HUMAN Homo sapiens ankyrin repeat domain 46 (ANKRD46), mRNA. 125 integral to membrane kidney(1)|large_intestine(2)|lung(4) 7 all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998) Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957) CCAGCAATCGGATGACATCTT 0.378000 107 12 0 0 1 0 0 NFE2L1 4779 broad.mit.edu 37 17 46136124 46136124 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:46136124C>T uc002imz.4 + 5 2091 c.1440C>T c.(1438-1440)tcC>tcT p.S480S NFE2L1_uc002ina.4_Silent_p.S450S|NFE2L1_uc002inb.4_Silent_p.S450S|NFE2L1_uc010wle.2_Silent_p.S292S|NFE2L1_uc010wlf.2_Silent_p.S324S NM_003204 NP_003195 Q14494 NF2L1_HUMAN Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA. 480 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CAGGCCTTTCCTTAGACTCGA 0.522000 128 10 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120976071 120976071 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:120976071C>T uc003eec.4 + 16 1863 c.1723C>T c.(1723-1725)Cct>Tct p.P575S STXBP5L_uc011bji.2_Missense_Mutation_p.P575S NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 575 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AGAAACAAGTCCTCCGTTTCC 0.388000 115 12 0 0 1 0 0 TNNI2 7136 broad.mit.edu 37 11 1862075 1862075 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:1862075G>A uc021qbv.1 + 4 235 c.213G>A c.(211-213)aaG>aaA p.K71K TNNI2_uc021qbt.1_Silent_p.K50K|TNNI2_uc021qbu.1_Silent_p.K50K|TNNI2_uc010qxe.1_Silent_p.K71K NM_003282 NP_003273 P48788 TNNI2_HUMAN Homo sapiens troponin I type 2 (skeletal, fast) (TNNI2), transcript variant 1, mRNA. 71 muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction cytosol|nucleus|troponin complex actin binding|troponin T binding lung(8)|prostate(1)|urinary_tract(1) 10 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) TGCACGCCAAGATCGATGCGG 0.672000 65 5 0 0 1 0 0 NUP54 53371 broad.mit.edu 37 4 77057348 77057348 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:77057348G>A uc003hjs.3 - 3 641 c.513C>T c.(511-513)tgC>tgT p.C171C NUP54_uc010ije.3_Intron|NUP54_uc011cbs.2_Intron|NUP54_uc011cbt.2_Silent_p.C123C|NUP54_uc003hjt.3_Intron NM_017426 NP_059122 Q7Z3B4 NUP54_HUMAN Homo sapiens nucleoporin 54kDa (NUP54), mRNA. 171 9 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleoplasm cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 CCTTAAATCGGCAAAAGGGAT 0.318000 109 8 0 0 1 0 0 GRAP2 9402 broad.mit.edu 37 22 40367082 40367082 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:40367082C>T uc003ayh.2 + 7 1250 c.987C>T c.(985-987)acC>acT p.T329T GRAP2_uc011aom.2_Silent_p.T303T|GRAP2_uc011aon.2_Silent_p.T263T|GRAP2_uc010gya.2_Silent_p.T329T|GRAP2_uc011aoo.2_Silent_p.T257T|GRAP2_uc011aop.2_Silent_p.T289T|GRAP2_uc011aoq.2_Silent_p.T216T|GRAP2_uc003ayj.2_Silent_p.T329T NM_004810 NP_004801 O75791 GRAP2_HUMAN Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA. 329 SH3 2. Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway|cell-cell signaling cytosol SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 CACCCATGACCCGATAAACTC 0.537000 114 6 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55133531 55133531 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:55133531G>A uc003han.4 + 5 1166 c.835G>A c.(835-837)Gag>Aag p.E279K PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E173K|PDGFRA_uc003ham.2_Non-coding_Transcript NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 279 Ig-like C2-type 3. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.P278P(1) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GACGGTCCCCGAGGCCACGGT 0.483000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 74 4 0 0 1 0 0 DNALI1 7802 broad.mit.edu 37 1 38027303 38027303 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:38027303G>A uc001cbj.3 + 3 619 c.609G>A c.(607-609)caG>caA p.Q203Q DNALI1_uc010oie.2_Non-coding_Transcript NM_003462 NP_003453 O14645 IDLC_HUMAN Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA. 181 cellular component movement|single fertilization axonemal dynein complex microtubule motor activity breast(1)|kidney(1)|large_intestine(2)|ovary(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGGCACTGCAGGCTGAGCAGG 0.577000 OREG0013380 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 5 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120293501 120293501 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:120293501C>T uc001eid.3 - 8 1539 c.1451G>A c.(1450-1452)aGc>aAc p.S484N HMGCS2_uc010oxj.2_Missense_Mutation_p.S442N|HMGCS2_uc021osw.1_Missense_Mutation_p.S250N NM_005518 NP_005509 P54868 HMCS2_HUMAN Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 484 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) TGGGAAAAGGCTGTTTGTGTC 0.488000 40 4 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9085544 9085544 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9085544G>A uc002mkp.3 - 0 6475 c.6271C>T c.(6271-6273)Cca>Tca p.P2091S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2091 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAAAAGAGTGGAAATTCAGTC 0.473000 174 12 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47422257 47422257 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:47422257C>T uc010ekv.3 + 0 325 c.325C>T c.(325-327)Cga>Tga p.R109* NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA. 109 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity TCAACCTCATCGAAGCACGGC 0.498000 134 11 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122047607 122047607 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:122047607G>A uc022akp.1 - 18 3155 c.2733C>T c.(2731-2733)ttC>ttT p.F911F CADPS2_uc003vkg.4_Silent_p.F605F|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Silent_p.F905F|CADPS2_uc022akr.1_Silent_p.F911F NM_001167940 NP_001161412 Q86UW7 CAPS2_HUMAN Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA. 911 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding p.R910*(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 CATTTCGGAGGAAATTATTAA 0.418000 23 3 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55377861 55377861 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:55377861G>A uc002qhl.4 + 7 1205 c.1142G>A c.(1141-1143)aGa>aAa p.R381K KIR3DL2_uc002qho.4_Missense_Mutation_p.R381K|KIR3DL2_uc010esh.3_Missense_Mutation_p.R364K P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA. 381 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) GCGGGGGACAGAACAGTGAAT 0.542000 136 18 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1046244 1046244 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:1046244C>T uc002lqw.4 + 12 1692 c.1461C>T c.(1459-1461)ggC>ggT p.G487G ABCA7_uc010dsb.1_Silent_p.G349G NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA. 487 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) GGGACCCTGGCCCAGCCGCGG 0.657000 202 8 0 0 1 0 0 FBXW11 23291 broad.mit.edu 37 5 171295697 171295697 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:171295697G>A uc003mbm.1 - 11 1942 c.1571C>T c.(1570-1572)cCc>cTc p.P524L FBXW11_uc011dey.1_Missense_Mutation_p.P492L|FBXW11_uc003mbl.1_Missense_Mutation_p.P511L|FBXW11_uc003mbn.1_Missense_Mutation_p.P490L NM_012300 NP_036432 Q9UKB1 FBW1B_HUMAN Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA. 524 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway|cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process SCF ubiquitin ligase complex|centrosome|cytosol|nucleus protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 21 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTGGGCACTGGGAGGCACATT 0.458000 92 6 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 107712800 107712800 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:107712800C>T uc001tmk.1 + 0 604 c.83C>T c.(82-84)tCg>tTg p.S28L BTBD11_uc009zut.1_Missense_Mutation_p.S28L|BTBD11_uc001tmj.3_Missense_Mutation_p.S28L NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA. 28 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GCGGCGGACTCGGTGCGCTCC 0.642000 31 3 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38998062 38998062 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:38998062C>T uc021yzh.1 + 92 14127 c.14018C>T c.(14017-14019)cCc>cTc p.P4673L DNAH8_uc003ooe.2_Missense_Mutation_p.P4456L NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TACAAGAAACCCAGGCGAACT 0.493000 95 10 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58287303 58287303 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:58287303G>A uc002aex.3 - 4 801 c.528C>T c.(526-528)ccC>ccT p.P176P ALDH1A2_uc010ugv.2_Silent_p.P155P|ALDH1A2_uc002aey.3_Silent_p.P176P|ALDH1A2_uc010ugw.2_Silent_p.P147P|ALDH1A2_uc002aew.3_Silent_p.P80P NM_003888 NP_733798 O94788 AL1A2_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA. 176 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) ACACTCCAATGGGTTCATGTC 0.383000 124 6 0 0 1 0 0 KDM2A 22992 broad.mit.edu 37 11 67020265 67020265 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:67020265C>T uc001ojw.3 + 17 3733 c.2869C>T c.(2869-2871)Ctt>Ttt p.L957F KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Missense_Mutation_p.L651F|KDM2A_uc010rpn.2_Missense_Mutation_p.L518F|KDM2A_uc001ojz.1_Missense_Mutation_p.L415F|KDM2A_uc001oka.3_Missense_Mutation_p.L81F|KDM2A_uc021qme.1_5'Flank NM_012308 NP_036440 Q9Y2K7 KDM2A_HUMAN Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA. 957 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm 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|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 GCCAGTCAGCCTTGACCTCAG 0.537000 OREG0021121 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 5 0 0 1 0 0 FAM75E1 286234 broad.mit.edu 37 9 90502271 90502271 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:90502271G>A uc004app.4 + 3 2904 c.2869G>A c.(2869-2871)Ggg>Agg p.G957R NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA. 957 integral to membrane CAAGGGCAGGGGGTGTTCTCA 0.617000 78 8 0 0 1 0 0 TTI1 9675 broad.mit.edu 37 20 36641227 36641227 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:36641227G>A uc002xhl.3 - 2 1201 c.992C>T c.(991-993)cCc>cTc p.P331L TTI1_uc002xhm.3_Missense_Mutation_p.P331L NM_014657 NP_055472 O43156 TTI1_HUMAN Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA. 331 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 CTTCAGAAGGGGACCAGCACA 0.453000 105 7 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36093627 36093627 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:36093627C>T uc003gsq.2 - 27 4639 c.4301G>A c.(4300-4302)gGa>gAa p.G1434E NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA. 1434 PH 5. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TTTGATGCTTCCCAGTGTACT 0.328000 91 7 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79465512 79465512 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:79465512C>T uc010mpk.3 - 2 335 c.211G>A c.(211-213)Gag>Aag p.E71K PRUNE2_uc022bih.1_Intron|PRUNE2_uc004akn.3_Missense_Mutation_p.E71K NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 71 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AACCTCGTCTCGGTGAAGTAG 0.393000 164 11 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152084023 152084023 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:152084023C>T uc009wne.1 - 2 1942 c.1670G>A c.(1669-1671)aGg>aAg p.R557K TCHH_uc001ezp.2_Missense_Mutation_p.R557K NM_007113 NP_009044 Q07283 TRHY_HUMAN Homo sapiens trichohyalin (TCHH), mRNA. 557 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding p.R557S(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCTCGAGCCTCTTCTCCTC 0.662000 137 8 0 0 1 0 0 SPINK7 84651 broad.mit.edu 37 5 147695212 147695212 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:147695212G>A uc003lpd.3 + 3 280 c.223G>A c.(223-225)Gga>Aga p.G75R AK054753_uc003lpb.1_Intron NM_032566 NP_115955 P58062 ISK7_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 7 (putative) (SPINK7), mRNA. 75 Kazal-like. extracellular region protein binding|serine-type endopeptidase inhibitor activity large_intestine(2)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAAAGTAATGGAAGAGTTCA 0.373000 44 6 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103718593 103718593 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:103718593C>T uc001vpy.4 - 0 604 c.7G>A c.(7-9)Gat>Aat p.D3N NM_000452 NP_000443 Q12908 NTCP2_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA. 3 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CTGTTCGGATCATTCATTGCT 0.507000 97 9 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140210016 140210016 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:140210016T>C uc003lho.2 + 0 2367 c.2340T>C c.(2338-2340)ccT>ccC p.P780P PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.P780P NM_018909 NP_061732 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA. 755 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCTTGTCCTATTATGATGG 0.448000 118 14 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37507968 37507968 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:37507968G>A uc021ppc.1 + 33 3259 c.3160G>A c.(3160-3162)Gaa>Aaa p.E1054K ANKRD30A_uc001iza.1_Missense_Mutation_p.E1054K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 1110 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GTTGAAAAAGGAAATTGCCAT 0.289000 19 3 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42476578 42476578 + Missense_Mutation SNP G A A rs142791383 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:42476578G>A uc002igw.2 - 7 3086 c.2867C>T c.(2866-2868)tCc>tTc p.S956F GPATCH8_uc002igv.2_Missense_Mutation_p.S878F|GPATCH8_uc010wiz.2_Missense_Mutation_p.S878F NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA. 956 Ser-rich. intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GCGGCCCCGGGATCTTGAGCG 0.567000 95 11 0 0 1 0 0 GNGT2 2793 broad.mit.edu 37 17 47284190 47284190 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:47284190C>T uc002ioo.2 - 3 446 c.139G>A c.(139-141)Gat>Aat p.D47N GNGT2_uc021tzo.1_Missense_Mutation_p.D47N|GNGT2_uc021tzp.1_Missense_Mutation_p.D47N|GNGT2_uc021tzq.1_Missense_Mutation_p.D47N NM_031498 NP_113686 O14610 GBGT2_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 (GNGT2), transcript variant 1, mRNA. 47 G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission extracellular region|heterotrimeric G-protein complex GTPase activity|signal transducer activity endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) AGAAAAGGATCGTTTCCTGCT 0.488000 96 13 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81741536 81741536 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:81741536C>T uc001szo.2 - 17 2169 c.2008G>A c.(2008-2010)Gaa>Aaa p.E670K PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E596K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E571K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E670K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E670K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E652K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E670K|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.E237K|PPFIA2_uc021rbf.1_5'UTR NM_003625 NP_003616 B7Z663 B7Z663_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA. 596 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 GATTCTTTTTCTTCCTGAATT 0.383000 41 5 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114326879 114326879 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:114326879G>A uc003ynu.3 - 1 481 c.322C>T c.(322-324)Cag>Tag p.Q108* CSMD3_uc003ynt.3_Nonsense_Mutation_p.Q68*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.Q108*|CSMD3_uc010mcx.1_Nonsense_Mutation_p.Q108*|CSMD3_uc003ynx.4_Nonsense_Mutation_p.Q108* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 108 CUB 1. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GCAAATGACTGAAAAACAATT 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 71 9 0 0 1 0 0 OR8G2 26492 broad.mit.edu 37 11 124095447 124095447 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:124095447G>A uc010saf.2 + 0 50 c.50G>A c.(49-51)gGa>gAa p.G17E NM_001007249 NP_001007250 Q8N0Y1 Q8N0Y1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA. 17 integral to membrane olfactory receptor activity Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) ATGTCAGCAGGAAACCATTCC 0.478000 40 3 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70071047 70071047 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:70071047G>A uc010kak.3 + 27 4158 c.3882G>A c.(3880-3882)atG>atA p.M1294I BAI3_uc003pev.4_Missense_Mutation_p.M1294I|BAI3_uc011dxx.2_Missense_Mutation_p.M500I NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 1294 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.D1293G(1) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GGGCTGACATGGACATAGTCC 0.373000 41 5 0 0 1 0 0 SLC7A3 84889 broad.mit.edu 37 X 70147388 70147388 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:70147388G>A uc004dyn.3 - 6 1303 c.1129C>T c.(1129-1131)Cac>Tac p.H377Y SLC7A3_uc004dyo.3_Missense_Mutation_p.H377Y NM_032803 NP_116192 Q8WY07 CTR3_HUMAN Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA. 377 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GTGCCGGTGTGGATCCGAGCA 0.567000 14 4 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73046120 73046120 + RNA SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:73046120C>T uc004ebn.2 + 0 c.34081C>T XIST_uc004ebm.1_Non-coding_Transcript Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA. TCTTCTCAGTCTAGGGCTTCT 0.413000 19 11 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891299 18891299 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:18891299G>A uc001rdy.3 + 0 255 c.97G>A c.(97-99)Gat>Aat p.D33N PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA. 33 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) TGCCTTTGATGATCTCTGTCT 0.458000 43 3 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87242492 87242492 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:87242492C>T uc003ydq.1 - 0 113 c.15G>A c.(13-15)gaG>gaA p.E5E SLC7A13_uc003ydr.1_Silent_p.E5E NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA. 5 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 GCTGTATTTTCTCCCCTCTAT 0.358000 58 5 0 0 1 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12943108 12943108 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:12943108T>C uc001aun.2 - 1 179 c.108A>G c.(106-108)gaA>gaG p.E36E NM_001009611 NP_001009611 O60810 PRAM4_HUMAN Homo sapiens PRAME family member 4 (PRAMEF4), mRNA. 36 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGGGGAAAAGTTCTGTGGGCA 0.627000 141 18 0 0 1 0 0 PRTG 283659 broad.mit.edu 37 15 55931947 55931947 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:55931947G>A uc002adg.3 - 12 2265 c.2217C>T c.(2215-2217)ttC>ttT p.F739F NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN Homo sapiens protogenin (PRTG), mRNA. 739 Fibronectin type-III 4. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TCCAGTGCAGGAAGATGGAAG 0.498000 160 14 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140839 143140840 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:143140839_143140840CC>TT uc011ktg.2 + 0 294_295 c.294_295CC>TT c.(292-297)ttccag>ttTTag p.Q99* LOC285965_uc003wda.3_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA. 99 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TTCTAGCTTTCCAGTGGGACTT 0.480000 108 8 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17692161 17692161 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:17692161G>A uc002rcl.1 - 2 3414 c.3390C>T c.(3388-3390)atC>atT p.I1130I RAD51AP2_uc010exn.1_Silent_p.I1121I NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA. 1130 Interaction with RAD51. endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCAATCCTGATTGGCCTAC 0.318000 27 3 0 0 1 0 0 OR51F1 256892 broad.mit.edu 37 11 4790321 4790321 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:4790321G>A uc010qyl.2 - 0 827 c.827C>T c.(826-828)tCa>tTa p.S276L NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA. 276 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) AGCCATCACTGAATGGACTAC 0.498000 92 9 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138414689 138414689 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:138414689G>A uc002tva.1 + 22 4244 c.4244G>A c.(4243-4245)cGa>cAa p.R1415Q THSD7B_uc010zbj.1_Non-coding_Transcript NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AATAACGAACGAACTGTATGG 0.413000 42 6 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106208432 106208432 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:106208432G>A uc001yse.3 - 3 512 c.66C>T c.(64-66)gtC>gtT p.V22V abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron RecName: Full=Ig gamma-1 chain C region; AGTTGAACTTGACCTCAGGGT 0.587000 216 31 0 0 1 0 0 GAS2 2620 broad.mit.edu 37 11 22747966 22747966 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:22747966A>G uc009yie.3 + 3 702 c.396A>G c.(394-396)gaA>gaG p.E132E GAS2_uc001mqm.3_Silent_p.E132E|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Silent_p.E132E NM_001143830 NP_808221 O43903 GAS2_HUMAN Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA. 132 CH. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 GTCTATTTGAATCGGAAGGTT 0.378000 61 5 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142574314 142574314 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:142574314G>A uc003wbx.2 - 5 838 c.609C>T c.(607-609)ctC>ctT p.L203L TRPV6_uc003wbw.1_5'UTR|TRPV6_uc010lou.1_Silent_p.L74L NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA. 203 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GCTGGAGGATGAGGATGTGTA 0.572000 182 21 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57828183 57828183 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:57828183G>A uc002yan.3 + 3 4178 c.4178G>A c.(4177-4179)cGa>cAa p.R1393Q NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1393 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) ATGGACAAACGAACTGTGAAG 0.468000 112 5 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136594272 136594272 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:136594272G>A uc003qgx.1 - 6 2159 c.1906C>T c.(1906-1908)Cag>Tag p.Q636* BCLAF1_uc003qgy.1_Nonsense_Mutation_p.Q634*|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Nonsense_Mutation_p.Q634*|BCLAF1_uc003qgw.1_Nonsense_Mutation_p.Q463* NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 636 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GTGGCTTTCTGATACGAAGTG 0.388000 220 12 0 0 1 0 0 MYL1 4632 broad.mit.edu 37 2 211163209 211163209 + Missense_Mutation SNP C T T rs141590730 byFrequency TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:211163209C>T uc002vec.3 - 2 368 c.239G>A c.(238-240)cGa>cAa p.R80Q MYL1_uc002veb.3_Missense_Mutation_p.R36Q NM_079420 NP_524144 P05976 MYL1_HUMAN Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA. 80 EF-hand 1. muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) GCCCAGAGCTCGAAGGACATC 0.458000 54 3 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971017 21971017 + Missense_Mutation SNP G A A rs121913386 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:21971017G>A uc003zpk.3 - 1 647 c.341C>T c.(340-342)cCc>cTc p.P114L MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.P114L|CDKN2A_uc003zpl.3_Silent_p.A128A NM_000077 NP_000068 P42771 CD2A1_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA. 114 P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding). G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence cytosol|nucleus NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding p.0?(1315)|p.P114L(59)|p.?(44)|p.P114H(6)|p.H83fs*2(2)|p.P114S(2)|p.L113M(1)|p.V115fs*11(1)|p.0(1)|p.L113L(1)|p.A68fs*3(1)|p.L113P(1)|p.A169A(1)|p.P114P(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGGTCCACGGGCAGACGGCC 0.731000 P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 39 4 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166246141 166246141 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:166246141G>A uc002udc.3 + 26 6115 c.5825G>A c.(5824-5826)gGa>gAa p.G1942E SCN2A_uc002udd.3_Missense_Mutation_p.G1942E|SCN2A_uc002ude.3_Missense_Mutation_p.G1942E|SCN2A_uc021vry.1_Missense_Mutation_p.G442E NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 1942 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GAATGTGATGGAACACCCATC 0.398000 34 8 0 0 1 0 0 EDARADD 128178 broad.mit.edu 37 1 236645648 236645648 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:236645648T>C uc001hxu.1 + 5 412 c.347T>C c.(346-348)cTc>cCc p.L116P EDARADD_uc001hxv.1_Missense_Mutation_p.L106P NM_145861 NP_665860 Q8WWZ3 EDAD_HUMAN Homo sapiens EDAR-associated death domain (EDARADD), transcript variant A, mRNA. 116 cell differentiation|signal transduction cytoplasm endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AGTGACTTGCTCAATGATCAG 0.483000 106 6 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124358978 124358978 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:124358978G>A uc003yqh.4 - 16 2333 c.2225C>T c.(2224-2226)cCt>cTt p.P742L ATAD2_uc011lii.2_Missense_Mutation_p.P533L|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.P742L NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA. 742 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TTCTAGCAGAGGACAAGAAAT 0.323000 147 15 0 0 1 0 0 TUBB1 81027 broad.mit.edu 37 20 57597906 57597906 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:57597906G>A uc002yak.3 + 1 333 c.64G>A c.(64-66)Gag>Aag p.E22K NM_030773 NP_110400 Q9H4B7 TBB1_HUMAN Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA. 22 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) TCAGTTCTGGGAGATGATTGG 0.547000 49 6 0 0 1 0 0 NR5A1 2516 broad.mit.edu 37 9 127262837 127262837 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:127262837G>A uc004boo.1 - 3 589 c.402C>T c.(400-402)ccC>ccT p.P134P NR5A1_uc022bnh.1_Silent_p.P134P NM_004959 NP_004950 Q13285 STF1_HUMAN Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA. 134 cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding lung(1)|upper_aerodigestive_tract(1) 2 AGTCCGGTGCGGGAGGGGGCG 0.711000 48 17 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20551999 20551999 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:20551999C>T uc002dhj.4 - 13 1816 c.1606G>A c.(1606-1608)Gcc>Acc p.A536T ACSM2B_uc002dhk.4_Missense_Mutation_p.A536T NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 536 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TTGTATGGGGCTGTCACTGAC 0.478000 79 10 0 0 1 0 0 TBX1 6899 broad.mit.edu 37 22 19770515 19770515 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:19770515C>T uc002zqc.3 + 8 1218 c.1089C>T c.(1087-1089)tcC>tcT p.S363S NM_005992 NP_005983 O43435 TBX1_HUMAN Homo sapiens T-box 1 (TBX1), transcript variant B, mRNA. 0 embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development nucleus protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|lung(3)|ovary(2) 8 Colorectal(54;0.0993) all_lung(157;3.05e-06) agtctgagtccctgagaccac 0.592000 127 9 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121650586 121650586 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:121650586C>T uc003vjy.3 + 11 1881 c.1486C>T c.(1486-1488)Ccc>Tcc p.P496S PTPRZ1_uc011knt.2_Missense_Mutation_p.P496S|PTPRZ1_uc003vjz.3_Missense_Mutation_p.P496S NM_002851 NP_002842 P23471 PTPRZ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA. 496 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity p.V495I(1) NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GGGTGATGTTCCCAATACATC 0.423000 51 10 0 0 1 0 0 NOMO2 283820 broad.mit.edu 37 16 18540843 18540843 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:18540843G>A uc002dfe.3 - 14 1858 c.1786C>T c.(1786-1788)Ctg>Ttg p.L596L NOMO2_uc002dff.3_Silent_p.L596L|NOMO2_uc010bvx.3_Silent_p.L429L NM_001004060 NP_001004060 Q5JPE7 NOMO2_HUMAN Homo sapiens NODAL modulator 2 (NOMO2), transcript variant 1, mRNA. 596 endoplasmic reticulum membrane|integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1) 20 GCGTGAGACAGGGAACATCTC 0.507000 63 6 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140938287 140938287 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:140938287G>A uc004cog.3 + 20 3493 c.3348G>A c.(3346-3348)gtG>gtA p.V1116V CACNA1B_uc022bqn.1_Silent_p.V1116V|CACNA1B_uc011mfd.2_Silent_p.V717V|CACNA1B_uc004coi.3_Silent_p.V326V NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 1116 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CGGATGACGTGATGAGGAGCG 0.602000 199 55 0 0 1 0 0 ARL3 403 broad.mit.edu 37 10 104459131 104459131 + Splice_Site SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:104459131A>G uc001kwa.3 - 3 422 c.264_splice c.e3+1 p.L88_splice NM_004311 NP_004302 P36405 ARL3_HUMAN Homo sapiens ADP-ribosylation factor-like 3 (ARL3), mRNA. 88 cell cycle|cytokinesis|small GTPase mediated signal transduction Golgi membrane|centrosome|cytoplasmic microtubule|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule GDP binding|GTP binding|metal ion binding|microtubule binding large_intestine(2) 2 Colorectal(252;0.122) Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22) AGTACTTACAAGAATATCGGT 0.363000 54 3 0 0 1 0 0 BPIFA2 140683 broad.mit.edu 37 20 31757083 31757083 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:31757083T>C uc002wyo.1 + 1 203 c.132T>C c.(130-132)ctT>ctC p.L44L NM_080574 NP_542141 Q96DR5 SPLC2_HUMAN Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA. 44 extracellular region lipid binding ACGAGGGACTTGAGACAGTTG 0.468000 125 11 0 0 1 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981983 61981983 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:61981983G>A uc002yes.2 - 4 958 c.780C>T c.(778-780)ctC>ctT p.L260L CHRNA4_uc002yet.1_Silent_p.L84L|CHRNA4_uc010gke.1_Silent_p.L189L|CHRNA4_uc002yev.1_Silent_p.L84L|CHRNA4_uc010gkf.1_Silent_p.L84L NM_000744 NP_000735 P43681 ACHA4_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA. 260 B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) CCAGCACGGTGAGGCAGGAGA 0.602000 95 7 0 0 1 0 0 PDK4 5166 broad.mit.edu 37 7 95224385 95224385 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:95224385G>A uc003uoa.3 - 1 542 c.222C>T c.(220-222)atC>atT p.I74I PDK4_uc003unz.3_5'Flank NM_002612 NP_002603 Q16654 PDK4_HUMAN Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA. 74 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity p.D73D(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) GGGTCGGGAGGATATCAATTT 0.388000 186 13 0 0 1 0 0 OR6C2 341416 broad.mit.edu 37 12 55846399 55846399 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:55846399G>A uc001sgz.1 + 0 402 c.402G>A c.(400-402)atG>atA p.M134I NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA. 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 TGGTCATCATGAACAACAGGG 0.453000 75 8 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23702165 23702165 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:23702165G>A uc002dma.4 - 21 3081 c.2912C>T c.(2911-2913)gCc>gTc p.A971V ERN2_uc010bxp.3_Missense_Mutation_p.A919V NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA. 923 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CCTCCCTGTGGCCCCAGGGCA 0.647000 27 3 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37296034 37296034 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:37296034A>G uc002rpp.1 - 7 1063 c.967T>C c.(967-969)Ttg>Ctg p.L323L NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA. 323 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) CTGCGCTCCAACCACTGACCA 0.463000 32 3 0 0 1 0 0 P4HTM 54681 broad.mit.edu 37 3 49044310 49044310 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:49044310G>A uc003cvh.3 + 8 2011 c.1662G>A c.(1660-1662)cgG>cgA p.R554R P4HTM_uc003cvg.3_Silent_p.R493R|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank NM_177938 NP_808807 Q9NXG6 P4HTM_HUMAN Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA. 493 endoplasmic reticulum membrane|integral to membrane L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 Vitamin C(DB00126) CTCTGGACCGGGCCTACCGCG 0.687000 35 3 0 0 1 0 0 RGS6 9628 broad.mit.edu 37 14 72921268 72921268 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:72921268C>T uc001xna.4 + 3 740 c.217C>T c.(217-219)Ctt>Ttt p.L73F RGS6_uc021rvv.1_Missense_Mutation_p.L38F|RGS6_uc010ttn.2_Missense_Mutation_p.L73F|RGS6_uc021rvw.1_Missense_Mutation_p.L73F|RGS6_uc021rvx.1_Missense_Mutation_p.L73F|RGS6_uc021rvy.1_Missense_Mutation_p.L73F|RGS6_uc021rvz.1_Missense_Mutation_p.L73F|RGS6_uc001xmy.4_Missense_Mutation_p.L73F|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.L73F|RGS6_uc021rwa.1_Missense_Mutation_p.L73F|RGS6_uc021rwb.1_Missense_Mutation_p.L73F|RGS6_uc010ttp.1_Missense_Mutation_p.L4F|RGS6_uc010arg.3_Non-coding_Transcript NM_001204423 NP_001191352 P49758 RGS6_HUMAN Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA. 73 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) TATGAAGAACCTTTCCATTGA 0.463000 141 16 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25338387 25338387 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:25338387C>T uc001upr.3 + 0 87 c.46C>T c.(46-48)Cag>Tag p.Q16* RNF17_uc010tdd.1_5'UTR|RNF17_uc010tde.2_Nonsense_Mutation_p.Q16*|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_5'UTR|RNF17_uc001upq.1_Nonsense_Mutation_p.Q16* NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 16 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GTCTTCCTACCAGCGAATGGG 0.622000 47 8 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20981309 20981309 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:20981309C>T uc010vbe.2 - 51 8263 c.8263G>A c.(8263-8265)Gaa>Aaa p.E2755K DNAH3_uc010vbd.2_Missense_Mutation_p.E190K NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2755 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCCTCACATTCGTTCTGTGGG 0.597000 90 13 0 0 1 0 0 C18orf34 374864 broad.mit.edu 37 18 30926343 30926343 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:30926343C>T uc010xbr.1 - 7 632 c.490G>A c.(490-492)Gaa>Aaa p.E164K C18orf34_uc002kxn.2_Missense_Mutation_p.E164K|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.E164K|C18orf34_uc002kxp.3_Missense_Mutation_p.E164K NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA. 164 NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2) 65 AGCAATGTTTCCATTTCCTGC 0.368000 80 6 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35333169 35333169 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:35333169G>A uc001byc.3 - 7 2545 c.2545C>T c.(2545-2547)Cag>Tag p.Q849* NM_001080418 NP_001073887 O95886 DLGP3_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA. 849 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) AAGAACTGCTGAACCTTCTGG 0.517000 352 39 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14497966 14497966 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:14497966C>T uc003jff.3 + 50 8036 c.8030C>T c.(8029-8031)cCc>cTc p.P2677L TRIO_uc003jfg.3_Non-coding_Transcript NM_007118 NP_009049 O75962 TRIO_HUMAN Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA. 2677 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CTTCTCAATCCCAACTACATT 0.403000 327 19 0 0 1 0 0 FBXO24 26261 broad.mit.edu 37 7 100189429 100189429 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:100189429C>T uc011kjz.1 + 3 644 c.576C>T c.(574-576)acC>acT p.T192T FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Silent_p.T140T|FBXO24_uc003uvm.1_Silent_p.T154T|FBXO24_uc003uvn.1_5'UTR|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Silent_p.T142T NM_012172 NP_036304 O75426 FBX24_HUMAN Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA. 154 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) ACGTGGGGACCCTCTTCTTCC 0.587000 137 9 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2321117 2321117 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:2321117C>T uc002wfx.4 + 12 2069 c.1972C>T c.(1972-1974)Cgt>Tgt p.R658C NM_003245 NP_003236 Q08188 TGM3_HUMAN Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA. 658 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) GTCCCGGGTCCGTTTTGATAT 0.602000 133 17 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237617733 237617733 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:237617733C>T uc001hyl.1 + 14 1455 c.1335C>T c.(1333-1335)gtC>gtT p.V445V NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 445 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.V443V(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTTCCACAGTCGATTTGCCTA 0.423000 33 3 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9027575 9027575 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr3:9027575C>T uc003brf.1 - 21 3604 c.2928G>A c.(2926-2928)cgG>cgA p.R976R SRGAP3_uc003brg.1_Silent_p.R952R NM_014850 NP_055665 O43295 SRGP2_HUMAN Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA. 976 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TCTCGAGTTCCCGCAACTCGT 0.642000 T RAF1 pilocytic astrocytoma 72 5 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87966238 87966238 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:87966238C>T uc001kdl.1 - 2 504 c.403G>A c.(403-405)Gat>Aat p.D135N GRID1_uc009xsu.1_Non-coding_Transcript NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA. 135 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GCCTCACCATCGGGGCTGGGG 0.627000 Multiple Myeloma(13;0.14) 92 10 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16126992 16126992 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:16126992C>T uc010bvi.3 + 5 817 c.642C>T c.(640-642)tcC>tcT p.S214S ABCC1_uc010bvj.3_Silent_p.S214S|ABCC1_uc010bvk.3_Silent_p.S214S|ABCC1_uc010bvl.3_Silent_p.S214S|ABCC1_uc010bvm.3_Silent_p.S214S|ABCC1_uc002del.4_Silent_p.S98S|ABCC1_uc010bvn.3_Silent_p.S77S NM_004996 NP_004987 P33527 MRP1_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA. 214 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CCAGCGCTTCCTTCCTGTCGA 0.522000 89 7 0 0 1 0 0 C1orf110 339512 broad.mit.edu 37 1 162824896 162824896 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:162824896C>T uc001gck.2 - 3 743 c.568G>A c.(568-570)Gaa>Aaa p.E190K C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.E189K NM_178550 NP_848645 Q86UF4 CA110_HUMAN Homo sapiens chromosome 1 open reading frame 110 (C1orf110), mRNA. 190 endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 GGACCTTGTTCTATGGTGTTG 0.478000 141 8 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67323518 67323518 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:67323518C>T uc002esu.2 - 15 2786 c.2735G>A c.(2734-2736)aGg>aAg p.R912K KCTD19_uc002est.2_Missense_Mutation_p.R684K|KCTD19_uc010vjj.1_Missense_Mutation_p.R655K NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA. 912 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) AGAGACAGACCTAGACAGGCC 0.537000 121 11 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163361035 163361035 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:163361035G>A uc002uch.2 - 5 1275 c.1046C>T c.(1045-1047)tCa>tTa p.S349L KCNH7_uc002uci.3_Missense_Mutation_p.S342L NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 349 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AGGAGGTGATGAATTCTTTTT 0.388000 87 8 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35072785 35072785 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:35072785G>A uc003jjm.3 - 5 994 c.435C>T c.(433-435)ccC>ccT p.P145P PRLR_uc003jjk.1_Silent_p.P74P|PRLR_uc003jjg.2_Silent_p.P145P|PRLR_uc003jjh.2_Silent_p.P145P|PRLR_uc003jji.2_Silent_p.P74P|PRLR_uc003jjj.2_Silent_p.P145P|PRLR_uc003jjl.4_Silent_p.P44P|PRLR_uc021xxl.1_Silent_p.P145P|PRLR_uc010iuw.1_Silent_p.P74P NM_000949 NP_000940 P16471 PRLR_HUMAN Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA. 145 Fibronectin type-III 2. T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TCCACAGGTAGGGTTTTCTGT 0.458000 73 9 0 0 1 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111576445 111576445 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:111576445C>T uc003kpv.1 - 9 1132 c.858G>A c.(856-858)aaG>aaA p.K286K NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA. 286 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) CCACACTGCACTTCCAGAGGT 0.308000 52 5 0 0 1 0 0 KRT9 3857 broad.mit.edu 37 17 39727707 39727707 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:39727707C>T uc002hxe.4 - 0 604 c.538G>A c.(538-540)Gac>Aac p.D180N JUP_uc010wfs.2_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN Homo sapiens keratin 9 (KRT9), mRNA. 180 Coil 1A.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) TTCTCCAGGTCGTTGTTGGCC 0.468000 107 10 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155099328 155099328 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:155099328C>T uc002tyt.4 + 3 700 c.596C>T c.(595-597)tCa>tTa p.S199L GALNT13_uc002tyr.4_Missense_Mutation_p.S199L|GALNT13_uc010foc.1_Missense_Mutation_p.S18L|GALNT13_uc010fod.3_5'Flank NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA. 199 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GCAGCTGCTTCAAAAGGGCAG 0.423000 45 4 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16248637 16248637 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:16248637G>A uc002den.4 - 28 4093 c.4056C>T c.(4054-4056)ttC>ttT p.F1352F ABCC6_uc010bvo.3_Non-coding_Transcript NM_001171 NP_001162 O95255 MRP6_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA. 1352 ABC transporter 2. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GAGAGCCAGGGAACAGGATGG 0.672000 20 3 0 0 1 0 0 DHRS7C 201140 broad.mit.edu 37 17 9680528 9680528 + Missense_Mutation SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:9680528T>C uc010vvb.2 - 3 569 c.556A>G c.(556-558)Atc>Gtc p.I186V DHRS7C_uc010cof.3_Missense_Mutation_p.I185V NM_001220493 NP_001207422 A6NNS2 DRS7C_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA. 186 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 CGGAACGGGATTCCAAACTTC 0.418000 48 3 0 0 1 0 0 TAAR1 134864 broad.mit.edu 37 6 132966495 132966495 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:132966495G>A uc003qdm.1 - 0 648 c.648C>T c.(646-648)atC>atT p.I216I NM_138327 NP_612200 Q96RJ0 TAAR1_HUMAN Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA. 216 plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11) 18 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) GTTCTTTAGCGATAAGATATA 0.333000 41 4 0 0 1 0 0 UGT3A2 167127 broad.mit.edu 37 5 36064363 36064363 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:36064363G>A uc003jjz.2 - 1 316 c.184C>T c.(184-186)Cct>Tct p.P62S UGT3A2_uc011cos.2_Intron|UGT3A2_uc011cot.2_5'UTR NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA. 62 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGCATAAAAGGACCTCTTTTG 0.393000 58 4 0 0 1 0 0 EMB 133418 broad.mit.edu 37 5 49699225 49699225 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:49699225G>A uc003jom.3 - 5 913 c.664C>T c.(664-666)Ctg>Ttg p.L222L EMB_uc010ivq.3_Silent_p.L16L|EMB_uc003jol.3_Silent_p.L153L|EMB_uc011cpy.2_Silent_p.L172L NM_198449 NP_940851 Q6PCB8 EMB_HUMAN Homo sapiens embigin (EMB), mRNA. 222 Ig-like V-type 2. integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) GTTATCTTCAGCTTTGTTTCG 0.388000 38 3 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58551861 58551861 + Silent SNP C T T rs147151087 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:58551861C>T uc002qrc.1 + 3 661 c.414C>T c.(412-414)ttC>ttT p.F138F NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA. 138 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) ACTGGAGTTTCGGTGAGGAGG 0.612000 230 14 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33312753 33312753 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:33312753C>T uc003tdn.1 + 7 1345 c.832C>T c.(832-834)Cga>Tga p.R278* BBS9_uc003tdo.1_Nonsense_Mutation_p.R278*|BBS9_uc003tdp.1_Nonsense_Mutation_p.R278*|BBS9_uc003tdq.1_Nonsense_Mutation_p.R278*|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc011kan.1_Nonsense_Mutation_p.R278*|BBS9_uc011kao.1_Nonsense_Mutation_p.R156* NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA. 278 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGGACAAATTCGATTCATGAA 0.378000 Bardet-Biedl syndrome 84 7 0 0 1 0 0 SMEK2 57223 broad.mit.edu 37 2 55808737 55808737 + Missense_Mutation SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:55808737A>T uc002rzc.3 - 7 2023 c.1331T>A c.(1330-1332)cTa>cAa p.L444Q SMEK2_uc002rzb.3_Missense_Mutation_p.L444Q|SMEK2_uc002rzd.3_Missense_Mutation_p.L444Q|SMEK2_uc002rza.3_Missense_Mutation_p.L320Q NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA. 444 microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TGGATCAATTAGAGTACGAAG 0.368000 120 12 0 0 1 0 0 DNAJC7 7266 broad.mit.edu 37 17 40133998 40133998 + Missense_Mutation SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:40133998A>G uc002hyo.3 - 11 1540 c.1259T>C c.(1258-1260)gTt>gCt p.V420A DNAJC7_uc010wgb.2_Missense_Mutation_p.V364A|DNAJC7_uc002hyp.3_Missense_Mutation_p.V364A|DNAJC7_uc010wgc.2_Missense_Mutation_p.V278A NM_003315 NP_001138238 Q99615 DNJC7_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 7 (DNAJC7), transcript variant 1, mRNA. 420 J. chaperone cofactor-dependent protein refolding cytoplasm|cytoskeleton|nucleus heat shock protein binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1) 9 all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305) CTCCTTCTGAACCTCAGCACT 0.428000 63 8 0 0 1 0 0 ZNF470 388566 broad.mit.edu 37 19 57088404 57088404 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:57088404C>T uc002qnl.4 + 5 1283 c.607C>T c.(607-609)Cat>Tat p.H203Y ZNF470_uc010etn.3_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN Homo sapiens zinc finger protein 470 (ZNF470), mRNA. 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H203Y(2) endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) ATTTAATTTTCATACAGATAA 0.289000 32 6 0 0 1 0 0 TAF1C 9013 broad.mit.edu 37 16 84213270 84213270 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:84213270G>A uc002fhn.3 - 13 2129 c.1887C>T c.(1885-1887)acC>acT p.T629T TAF1C_uc010vnz.2_Silent_p.T297T|TAF1C_uc002fho.3_Silent_p.T152T|TAF1C_uc010voa.2_Silent_p.T297T|TAF1C_uc002fhm.3_Silent_p.T535T|TAF1C_uc010vnx.2_Silent_p.T603T|TAF1C_uc010vny.2_Silent_p.T220T NM_005679 NP_001230088 Q15572 TAF1C_HUMAN Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA. 629 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 TGTCCTGGGAGGTCCAGGAAG 0.667000 18 4 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157490932 157490932 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:157490932G>A uc009wsm.3 - 10 2548 c.2390C>T c.(2389-2391)tCg>tTg p.S797L FCRL5_uc001fqu.3_Missense_Mutation_p.S797L NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 797 Ig-like C2-type 8. integral to membrane|plasma membrane receptor activity p.S797L(2) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) AGAGGGGGACGACCTATTTCC 0.592000 115 14 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92087298 92087298 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:92087298G>A uc001pdj.4 + 0 2037 c.2020G>A c.(2020-2022)Ggg>Agg p.G674R NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 674 Cadherin 6. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGTCCTACATGGGAAAGTGTC 0.408000 TCGA Ovarian(4;0.039) 29 4 0 0 1 0 0 IL16 3603 broad.mit.edu 37 15 81565429 81565429 + Splice_Site SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:81565429A>G uc021ssh.1 + 5 777 c.676_splice c.e5-2 p.G226_splice IL16_uc002bgc.2_Splice_Site|IL16_uc010blq.1_Splice_Site_p.G226_splice|IL16_uc002bge.4_Splice_Site|IL16_uc010unp.2_Splice_Site_p.G268_splice|IL16_uc021ssg.1_Splice_Site_p.G226_splice|IL16_uc002bgg.3_Splice_Site_p.G226_splice NM_172217 NP_757366 Q14005 IL16_HUMAN Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA. 226 Interaction with GRIN2A.|PDZ 1. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 TTTTTTCCCCAGGGTCTGGGC 0.512000 50 4 0 0 1 0 0 RBM26 64062 broad.mit.edu 37 13 79911419 79911419 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr13:79911419G>A uc001vkz.2 - 18 2571 c.2557C>T c.(2557-2559)Ctt>Ttt p.L853F RBM26_uc001vky.2_Missense_Mutation_p.L824F|RBM26_uc001vla.2_Missense_Mutation_p.L827F|RBM26_uc001vkx.2_Missense_Mutation_p.L563F|RBM26_uc010tia.2_Missense_Mutation_p.L208F NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN Homo sapiens RNA binding motif protein 26 (RBM26), mRNA. 851 mRNA processing RNA binding|nucleotide binding|protein binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) CCAGATGAAAGAATCCCTCGT 0.517000 128 11 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131833327 131833327 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:131833327C>T uc003vra.4 - 25 4968 c.4739G>A c.(4738-4740)cGa>cAa p.R1580Q NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1580 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TGTGTTCAGTCGCTTCCAATC 0.522000 116 8 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160978564 160978564 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:160978564C>T uc003qtl.3 - 29 4791 c.4671G>A c.(4669-4671)ggG>ggA p.G1557G NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 4065 Kringle 14. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) AGGGTTGTTTCCCAGAATCTG 0.507000 85 10 0 0 1 0 0 GTPBP1 9567 broad.mit.edu 37 22 39122090 39122090 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr22:39122090C>T uc003awg.3 + 6 1307 c.1153C>T c.(1153-1155)Ccc>Tcc p.P385S NM_004286 NP_004277 O00178 GTPB1_HUMAN Homo sapiens GTP binding protein 1 (GTPBP1), mRNA. 385 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) CCTCCTCTCCCCCCGCACCAG 0.567000 180 23 0 0 1 0 0 CTDSPL2 51496 broad.mit.edu 37 15 44811453 44811453 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:44811453C>T uc001ztr.3 + 10 1615 c.1199C>T c.(1198-1200)aCt>aTt p.T400I CTDSPL2_uc001zts.3_Missense_Mutation_p.T400I|CTDSPL2_uc001ztt.3_Missense_Mutation_p.T400I|CTDSPL2_uc010bdv.3_Missense_Mutation_p.T328I NM_016396 NP_057480 Q05D32 CTSL2_HUMAN Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 (CTDSPL2), mRNA. 400 FCP1 homology. phosphoprotein phosphatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 13 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) CTTTCAAAAACTATAATAATT 0.333000 67 11 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508226 37508226 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:37508226G>A uc021ppc.1 + 33 3517 c.3418G>A c.(3418-3420)Gaa>Aaa p.E1140K ANKRD30A_uc001iza.1_Missense_Mutation_p.E1140K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 1196 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GGCAGAAATTGAATCACACCA 0.393000 39 3 0 0 1 0 0 F2RL3 9002 broad.mit.edu 37 19 17001280 17001280 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:17001280G>A uc002nfa.3 + 1 1181 c.1006G>A c.(1006-1008)Gat>Aat p.D336N NM_003950 NP_003941 Q96RI0 PAR4_HUMAN Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA. 336 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CAGCTGCGTGGATCCCTTCAT 0.657000 32 4 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121290694 121290694 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:121290694C>T uc003yox.3 + 27 3623 c.3358C>T c.(3358-3360)Cga>Tga p.R1120* COL14A1_uc003yoz.3_Nonsense_Mutation_p.R85* NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 1120 VWFA 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TAAGTATGTTCGAGATACCTT 0.398000 44 4 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155485632 155485632 + Silent SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:155485632G>A uc003qqb.3 + 9 3385 c.2112G>A c.(2110-2112)ggG>ggA p.G704G TIAM2_uc003qqe.3_Silent_p.G704G|TIAM2_uc010kjj.3_Silent_p.G237G|TIAM2_uc003qqf.3_Silent_p.G56G|TIAM2_uc011efl.1_Silent_p.G16G|TIAM2_uc003qqg.3_Silent_p.G16G NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA. 704 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TACAAGGTGGGGAGTTACCGA 0.537000 154 9 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63149694 63149694 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:63149694G>A uc001nww.3 + 5 1286 c.1018G>A c.(1018-1020)Gaa>Aaa p.E340K SLC22A9_uc001nwx.3_Non-coding_Transcript NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA. 340 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 TTCTCTGTGTGAAATGCTCCA 0.398000 72 6 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55798596 55798596 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:55798596C>T uc002qkf.3 + 4 421 c.294C>T c.(292-294)atC>atT p.I98I BRSK1_uc021vbs.1_Silent_p.I82I|BRSK1_uc002qkg.3_Silent_p.I82I NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA. 82 Protein kinase. G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) AGCGGGAGATCGCCATCCTGA 0.607000 205 11 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17083065 17083065 + Silent SNP T C C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:17083065T>C uc001ioo.3 - 26 4036 c.3984A>G c.(3982-3984)gaA>gaG p.E1328E NM_001081 NP_001072 O60494 CUBN_HUMAN Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA. 1328 CUB 8. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTATGTGATGTTCCAAGTCAA 0.388000 148 9 0 0 1 0 0 STYK1 55359 broad.mit.edu 37 12 10777287 10777287 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:10777287G>A uc001qys.2 - 7 1410 c.889C>T c.(889-891)Cgg>Tgg p.R297W NM_018423 NP_060893 Q6J9G0 STYK1_HUMAN Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA. 297 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity p.R297Q(1) breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 AGGAGAAGCCGTTCTGGGGCA 0.493000 HNSCC(73;0.22) 152 22 0 0 1 0 0 OR51I1 390063 broad.mit.edu 37 11 5461933 5461933 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:5461933G>A uc010qze.2 - 0 851 c.812C>T c.(811-813)cCa>cTa p.P271L HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA. 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AACAACAGGTGGAGCACTTTT 0.478000 70 7 0 0 1 0 0 HOMEZ 57594 broad.mit.edu 37 14 23746302 23746302 + Silent SNP A T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:23746302A>T uc001wja.2 - 1 283 c.135T>A c.(133-135)ccT>ccA p.P45P HOMEZ_uc001wjb.2_Silent_p.P47P NM_020834 NP_065885 Q8IX15 HOMEZ_HUMAN Homo sapiens homeobox and leucine zipper encoding (HOMEZ), mRNA. 45 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) CAGAGATTGGAGGGAGGCAGA 0.532000 40 3 0 0 1 0 0 ILDR2 387597 broad.mit.edu 37 1 166927045 166927045 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:166927045C>T uc001gdx.2 - 1 396 c.340G>A c.(340-342)Gga>Aga p.G114R NM_199351 NP_955383 Q71H61 ILDR2_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA. 114 Ig-like V-type. integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 TAGAAATCTCCCAGGGTGACA 0.473000 70 8 0 0 1 0 0 P2RY2 5029 broad.mit.edu 37 11 72945257 72945257 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr11:72945257G>A uc021qna.1 + 0 53 c.53G>A c.(52-54)gGg>gAg p.G18E P2RY2_uc001otk.3_Missense_Mutation_p.G18E|P2RY2_uc001otj.3_Missense_Mutation_p.G18E|P2RY2_uc001otl.3_Missense_Mutation_p.G18E NM_176072 NP_788086 P41231 P2RY2_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA. 18 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.G18W(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) ACCTGGGATGGGGATGAGCTG 0.637000 89 7 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153026564 153026564 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:153026564C>T uc011dcy.2 + 2 354 c.327C>T c.(325-327)tcC>tcT p.S109S GRIA1_uc003lva.4_Silent_p.S99S|GRIA1_uc003luy.4_Silent_p.S99S|GRIA1_uc003luz.4_Silent_p.S4S|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Silent_p.S30S|GRIA1_uc011dcz.2_Silent_p.S109S|GRIA1_uc010jia.1_Silent_p.S79S NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 99 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGCTGACCTCCTTTTGTGGGG 0.493000 80 5 0 0 1 0 0 ZNF599 148103 broad.mit.edu 37 19 35250983 35250983 + Silent SNP A G G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:35250983A>G uc010edn.1 - 3 1111 c.723T>C c.(721-723)gaT>gaC p.D241D ZNF599_uc010edm.2_Silent_p.D204D NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN Homo sapiens zinc finger protein 599 (ZNF599), mRNA. 241 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D241G(1) endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GTCGAATGACATCAGCCATAT 0.483000 101 11 0 0 1 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150439527 150439527 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:150439527C>T uc022apw.1 + 5 1052 c.912C>T c.(910-912)atC>atT p.I304I GIMAP1-GIMAP5_uc003whr.2_Silent_p.I100I NM_001199577 NP_001186506 Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA. ACAAGAACATCGGGGACTGCT 0.582000 106 9 0 0 1 0 0 FAM217A 222826 broad.mit.edu 37 6 4069785 4069785 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:4069785C>T uc003mvx.3 - 6 1078 c.672G>A c.(670-672)ctG>ctA p.L224L FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Silent_p.L161L NM_173563 NP_775834 Q8IXS0 CF146_HUMAN Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA. 224 GCTTCAAGTTCAGGTCCACCT 0.368000 124 7 0 0 1 0 0 DENND2D 79961 broad.mit.edu 37 1 111741286 111741286 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:111741286C>T uc001eak.1 - 2 522 c.322G>A c.(322-324)Ggg>Agg p.G108R DENND2D_uc001eal.1_Missense_Mutation_p.G105R NM_024901 NP_079177 Q9H6A0 DEN2D_HUMAN Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA. 108 UDENN. breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) CACTCATTCCCATCTGGGAAG 0.542000 146 16 0 0 1 0 0 CPN1 1369 broad.mit.edu 37 10 101829544 101829544 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:101829544G>A uc001kql.2 - 2 763 c.503C>T c.(502-504)aCc>aTc p.T168I NM_001308 NP_001299 P15169 CBPN_HUMAN Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA. 168 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) GTAGATATAGGTATTGAGATC 0.468000 89 13 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71532599 71532599 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr9:71532599C>T uc004agu.3 + 8 1212 c.907C>T c.(907-909)Ctc>Ttc p.L303F PIP5K1B_uc011lrq.2_Missense_Mutation_p.L303F|PIP5K1B_uc004agv.3_Non-coding_Transcript NM_003558 NP_003549 O14986 PI51B_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA. 303 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) GCAGAAGGTTCTCTACTCAAC 0.502000 88 12 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80476056 80476056 + Nonsense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr5:80476056C>T uc003kha.2 + 17 2799 c.2749C>T c.(2749-2751)Cga>Tga p.R917* RASGRF2_uc011ctn.2_Non-coding_Transcript NM_006909 NP_008840 O14827 RGRF2_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA. 917 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane Rho guanyl-nucleotide exchange factor activity|protein binding biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) GGCTACCAATCGAGTTCTGAA 0.398000 132 15 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20037364 20037364 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:20037364G>A uc002wru.3 + 1 181 c.67G>A c.(67-69)Gat>Aat p.D23N C20orf26_uc010gcw.2_Intron|C20orf26_uc010zse.2_Missense_Mutation_p.D23N|C20orf26_uc010zsf.1_Missense_Mutation_p.D23N|CRNKL1_uc002wrs.3_5'Flank|CRNKL1_uc002wrt.1_5'Flank NM_015585 NP_056400 Q8NHU2 CT026_HUMAN Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA. 23 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) AGAATCACAGGATGTTTATTG 0.353000 120 8 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16458322 16458322 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:16458322G>A uc001aya.2 - 13 2524 c.2369C>T c.(2368-2370)tCc>tTc p.S790F NM_004431 NP_004422 P29317 EPHA2_HUMAN Homo sapiens EPH receptor A2 (EPHA2), mRNA. 790 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) CTTCCGGTAGGAAATGGCCTC 0.632000 48 3 0 0 1 0 0 GNGT2 2793 broad.mit.edu 37 17 47284743 47284743 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr17:47284743C>T uc002ioo.2 - 2 349 c.42G>A c.(40-42)gaG>gaA p.E14E GNGT2_uc021tzo.1_Silent_p.E14E|GNGT2_uc021tzp.1_Silent_p.E14E|GNGT2_uc021tzq.1_Silent_p.E14E|ABI3_uc002ioq.1_5'Flank|ABI3_uc002iop.1_5'Flank NM_031498 NP_113686 O14610 GBGT2_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 (GNGT2), transcript variant 1, mRNA. 14 G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission extracellular region|heterotrimeric G-protein complex GTPase activity|signal transducer activity endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) GCTGCTCCACCTCCATCTTCA 0.537000 260 21 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160978488 160978488 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:160978488C>T uc003qtl.3 - 29 4867 c.4747G>A c.(4747-4749)Gaa>Aaa p.E1583K NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 4091 Kringle 14. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ACACCTGATTCTGTTTCTGAG 0.483000 125 13 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21775302 21775302 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:21775302C>T uc003svc.3 + 46 7537 c.7506C>T c.(7504-7506)ttC>ttT p.F2502F NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 2502 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTAGATATTTCATGGAGTTGT 0.443000 Kartagener syndrome 5 3 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990952 63990952 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:63990952C>T uc003peh.3 - 3 538 c.504G>A c.(502-504)gtG>gtA p.V168V LGSN_uc003pei.3_Silent_p.V168V NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA. 168 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TATCACATATCACTCTTGCAG 0.458000 77 7 0 0 1 0 0 CTAGE4 100128553 broad.mit.edu 37 7 143882692 143882692 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:143882692C>T uc010lpc.3 + 0 2145 c.2096C>T c.(2095-2097)gCt>gTt p.A699V NM_198495 NP_940897 Q8IX94 CTGE4_HUMAN Homo sapiens CTAGE family, member 4 (CTAGE4), mRNA. 699 Pro-rich. integral to membrane endometrium(1)|ovary(2) 3 CCACCTCTTGCTCCAATCAGC 0.498000 284 11 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158585181 158585181 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:158585181C>T uc001fst.1 - 47 6812 c.6613G>A c.(6613-6615)Gag>Aag p.E2205K NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 2205 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GCCTGGATCTCCTTCTGTTTT 0.458000 103 4 0 0 1 0 0 CCDC62 84660 broad.mit.edu 37 12 123276650 123276650 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:123276650G>A uc001udc.3 + 5 916 c.754G>A c.(754-756)Gat>Aat p.D252N CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Intron|CCDC62_uc021rfn.1_Missense_Mutation_p.D67N NM_201435 NP_958843 Q6P9F0 CCD62_HUMAN Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA. 252 cytoplasm|nucleus p.D252N(3) breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) TTGCCTGCACGATGAATTGCT 0.393000 62 5 0 0 1 0 0 SAMHD1 25939 broad.mit.edu 37 20 35547846 35547846 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:35547846C>T uc002xgh.2 - 6 973 c.773G>A c.(772-774)gGt>gAt p.G258D NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA. 258 HD. defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) AGGGATGAGACCATATTGTTC 0.353000 62 5 0 0 1 0 0 DNAJC16 23341 broad.mit.edu 37 1 15888703 15888703 + Silent SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:15888703C>T uc001aws.3 + 8 1341 c.1221C>T c.(1219-1221)tcC>tcT p.S407S DNAJC16_uc001awr.1_Silent_p.S407S|DNAJC16_uc001awt.3_Silent_p.S95S|DNAJC16_uc001awu.3_Non-coding_Transcript NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA. 407 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) CTTTCCTGTCCTTTGCCCTGG 0.458000 197 20 0 0 1 0 0 CCNL2 81669 broad.mit.edu 37 1 1322811 1322811 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:1322811G>A uc001afi.2 - 10 1395 c.1363C>T c.(1363-1365)Ccc>Tcc p.P455S CCNL2_uc010nym.1_Non-coding_Transcript|CCNL2_uc001aff.1_Missense_Mutation_p.P233S|CCNL2_uc001afg.1_Missense_Mutation_p.P233S|CCNL2_uc001afj.2_Missense_Mutation_p.P233S NM_030937 NP_112199 Q96S94 CCNL2_HUMAN Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA. 455 RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) GGCTTCTGGGGGTACTTGCAG 0.602000 85 9 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138584019 138584019 + Missense_Mutation SNP T A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:138584019T>A uc003qhu.3 + 11 1570 c.1399T>A c.(1399-1401)Tgg>Agg p.W467R NM_020340 NP_065073 Q5TH69 BIG3_HUMAN Homo sapiens KIAA1244 (KIAA1244), mRNA. 467 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TGGGGCTGAGTGGAGCCGAGA 0.617000 18 3 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9072091 9072091 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr19:9072091G>A uc002mkp.3 - 2 15559 c.15355C>T c.(15355-15357)Cct>Tct p.P5119S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5121 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTATAGAAGGAAAAATTTCC 0.453000 38 3 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103123354 103123354 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:103123354C>T uc022ajr.1 - 62 10406 c.10246G>A c.(10246-10248)Gat>Aat p.D3416N RELN_uc022ajq.1_Missense_Mutation_p.D3416N|RELN_uc010liz.3_Missense_Mutation_p.D3416N NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 3416 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCCCATTGATCATGACCTGTT 0.473000 113 13 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29295276 29295276 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr2:29295276C>T uc002rmt.2 - 0 1852 c.1852G>A c.(1852-1854)Gac>Aac p.D618N NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA. 618 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TGACTGAGGTCCCTCTGGACC 0.632000 31 6 0 0 1 0 0 MAP7D3 79649 broad.mit.edu 37 X 135309544 135309544 + Nonsense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chrX:135309544G>A uc004ezt.3 - 11 2154 c.1933C>T c.(1933-1935)Caa>Taa p.Q645* MAP7D3_uc004ezs.3_Nonsense_Mutation_p.Q610*|MAP7D3_uc011mwc.2_Nonsense_Mutation_p.Q627*|MAP7D3_uc010nsa.2_Nonsense_Mutation_p.Q603* NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA. 645 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) TCTTCTGCTTGGCCTCCAACT 0.403000 50 23 0 0 1 0 0 KLRD1 3824 broad.mit.edu 37 12 10464126 10464126 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:10464126C>T uc009zhi.3 + 3 487 c.227C>T c.(226-228)tCc>tTc p.S76F KLRD1_uc001qxw.4_Missense_Mutation_p.S76F|KLRD1_uc001qxx.4_Missense_Mutation_p.S76F|KLRD1_uc001qxy.4_Missense_Mutation_p.S45F|KLRD1_uc009zhh.3_Missense_Mutation_p.S55F|KLRD1_uc001qxz.4_Missense_Mutation_p.S76F Q13241 KLRD1_HUMAN Homo sapiens killer cell lectin-like receptor subfamily D, member 1 (KLRD1), transcript variant 1, mRNA. 76 C-type lectin. cell surface receptor linked signaling pathway|regulation of immune response integral to membrane|plasma membrane sugar binding|transmembrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 10 TACTTCATTTCCAGTGAACAG 0.448000 91 11 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23716367 23716367 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr16:23716367C>T uc002dma.4 - 7 1004 c.835G>A c.(835-837)Ggc>Agc p.G279S ERN2_uc010bxp.3_Missense_Mutation_p.G279S|ERN2_uc010bxq.1_Missense_Mutation_p.G87S NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA. 231 T -> A (in Ref. 1; BAB21297). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GTGTAGACGCCCATCACAGGC 0.677000 48 4 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43769304 43769304 + Missense_Mutation SNP G A A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:43769304G>A uc010skx.2 - 35 5324 c.5324C>T c.(5323-5325)cCa>cTa p.P1775L NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 1775 GON. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ACATTGATATGGATTTTTTAG 0.348000 117 12 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20846559 20846559 + Missense_Mutation SNP C T T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr14:20846559C>T uc001vxe.3 - 37 5528 c.5488G>A c.(5488-5490)Gat>Aat p.D1830N TEP1_uc010ahk.3_Missense_Mutation_p.D1173N|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.D1722N|TEP1_uc010tlh.1_Missense_Mutation_p.D168N NM_007110 NP_009041 Q99973 TEP1_HUMAN Homo sapiens telomerase-associated protein 1 (TEP1), mRNA. 1830 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TTGAGCCCATCCACCTGGAAG 0.582000 73 4 0 0 1 0 0 TCEA3 6920 broad.mit.edu 37 1 23724379 23724379 + Frame_Shift_Del DEL G - - TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr1:23724379delG uc021oig.1 - 5 648 c.513delC c.(511-513)gccfs p.A171fs TCEA3_uc021oih.1_Frame_Shift_Del_p.A150fs NM_003196 NP_003187 O75764 TCEA3_HUMAN Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA. 171 Ser-rich. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent nucleus DNA binding|translation elongation factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198) ACATGGAAGAGGCAAACGTGG 0.542 --- 88 --- --- 7 --- UGT2A3 79799 broad.mit.edu 37 4 69796888 69796888 + Frame_Shift_Del DEL G - - TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr4:69796888delG uc003hef.2 - 3 1100 c.1069delC c.(1069-1071)cagfs p.Q357fs UGT2A3_uc010ihp.1_Non-coding_Transcript NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA. 357 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AGATCATTCTGGGGTATCCAA 0.368 --- 75 --- --- 10 --- GABRR2 2570 broad.mit.edu 37 6 89975427 89975429 + In_Frame_Del DEL AAG - - TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr6:89975427_89975429delAAG uc003pnb.2 - 6 875_877 c.867_869delCTT c.(865-870)ttcttg>ttg p.F289del GABRR2_uc011dzx.1_In_Frame_Del_p.F165del NM_002043 NP_002034 P28476 GBRR2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA. 289 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) TGTTTGGAGCAAGAAGAAGAAGA 0.517 --- 139 --- --- 7 --- TRIM4 89122 broad.mit.edu 37 7 99506323 99506325 + In_Frame_Del DEL TCT - - TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:99506323_99506325delTCT uc003usd.3 - 3 877_879 c.678_680delAGA c.(676-681)gaagag>gag p.226_227EE>E TRIM4_uc003use.3_In_Frame_Del_p.200_201EE>E|TRIM4_uc011kjc.2_In_Frame_Del_p.56_57EE>E|TRIM4_uc003usf.3_In_Frame_Del_p.200_201EE>E NM_033017 NP_148977 Q9C037 TRIM4_HUMAN Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA. 226 protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) CTTCTTCGTCTCTTCTTCTTCTT 0.443 --- 92 --- --- 7 --- PILRB 29990 broad.mit.edu 37 7 99943553 99943553 + RNA DEL T - - TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:99943553delT uc022ail.1 + 3 c.346delT Q9UKJ0 PILRB_HUMAN Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 2, non-coding RNA. activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGTGAAGGGATTTTTTTTTTT 0.413 --- 5 --- --- 3 --- FOXP2 93986 broad.mit.edu 37 7 114271580 114271582 + Splice_Site DEL CAG - - TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:114271580_114271582delCAG uc003vhb.3 + 6 972 c.598_splice c.e6-1 p.Q200_splice FOXP2_uc003vgu.3_Splice_Site|FOXP2_uc003vgz.3_Splice_Site_p.Q225_splice|FOXP2_uc003vha.3_Splice_Site_p.Q108_splice|FOXP2_uc011kmv.2_Intron|FOXP2_uc011kmu.2_Splice_Site_p.Q217_splice|FOXP2_uc010ljz.2_Splice_Site_p.Q108_splice|FOXP2_uc003vgt.2_Splice_Site|FOXP2_uc003vgv.1_Splice_Site_p.Q200_splice|FOXP2_uc003vgx.2_Splice_Site_p.Q200_splice|FOXP2_uc003vhc.3_Splice_Site_p.Q225_splice|FOXP2_uc003vhd.3_Splice_Site_p.Q200_splice NM_014491 NP_055306 O15409 FOXP2_HUMAN Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA. 200 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding p.?(3) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 TTTCTGATACcagcagcagcagc 0.512 --- 4 --- --- 2 --- PRKAG2 51422 broad.mit.edu 37 7 151261265 151261266 + Frame_Shift_Del DEL TC - - TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr7:151261265_151261266delTC uc003wkk.3 - 13 2093_2094 c.1482_1483delGA c.(1480-1485)gtgaccfs p.V494fs PRKAG2_uc003wki.3_Frame_Shift_Del_p.V253fs|PRKAG2_uc011kvl.2_Frame_Shift_Del_p.V369fs|PRKAG2_uc003wkj.3_Frame_Shift_Del_p.V450fs|PRKAG2_uc003wkl.2_Frame_Shift_Del_p.V42fs NM_016203 NP_077747 Q9UGJ0 AAKG2_HUMAN Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA. 494 ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1) 26 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) AGGGCCTGGGTCACCGTGATAT 0.401 --- 231 --- --- 30 --- PRKDC 5591 broad.mit.edu 37 8 48866910 48866910 + Frame_Shift_Del DEL T - - TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr8:48866910delT uc003xqi.3 - 4 553 c.496delA c.(496-498)atafs p.I166fs PRKDC_uc003xqj.3_Frame_Shift_Del_p.I166fs NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 166 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GTATCTGGTATTTTTTTTTTC 0.264 Non-homologous end-joining --- 6 --- --- 3 --- TCERG1L 256536 broad.mit.edu 37 10 133109585 133109587 + In_Frame_Del DEL GCG - - TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr10:133109585_133109587delGCG uc001lkp.3 - 0 398_400 c.312_314delCGC c.(310-315)gccgcg>gcg p.104_105AA>A NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA. 104 Poly-Ala. cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) gaaggggtgcgcggcggcggcgg 0.818 --- 4 --- --- 2 --- KRT2 3849 broad.mit.edu 37 12 53045603 53045604 + In_Frame_Ins INS - AAGCCGCTGCCACCTCCA AAGCCGCTGCCACCTCCA rs35124031 TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA uc001sat.3 - 0 356_357 c.323_324insTGGAGGTGGCAGCGGCTT c.(322-324)ttc>ttTGGAGGTGGCAGCGGCTTc p.108_108F>FGGGSGF NM_000423 NP_000414 P35908 K22E_HUMAN Homo sapiens keratin 2 (KRT2), mRNA. 108 Head. F -> FGGGSGF (in Ref. 1; AAC83410 and 2; AAB81946). keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) caccaccactgaagccgctgcc 0.629 --- 5 --- --- 3 --- C15orf52 388115 broad.mit.edu 37 15 40631782 40631782 + Frame_Shift_Del DEL C - - TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr15:40631782delC uc001zlh.4 - 2 310 c.294delG c.(292-294)gggfs p.G98fs C15orf52_uc001zli.1_5'UTR|C15orf52_uc010ucn.2_5'Flank NM_207380 NP_997263 Q6ZUT6 CO052_HUMAN Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA. 98 p.M99fs*3(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) TCACAGCCATCCCCCCCTGCT 0.647 --- 244 --- --- 7 --- RTTN 25914 broad.mit.edu 37 18 67844040 67844040 + Frame_Shift_Del DEL G - - TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr18:67844040delG uc002lkp.2 - 10 1415 c.1347delC c.(1345-1347)accfs p.T449fs RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Frame_Shift_Del_p.T449fs NM_173630 NP_775901 Q86VV8 RTTN_HUMAN Homo sapiens rotatin (RTTN), mRNA. 449 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GGTAGCACATGGTTTCTCCAA 0.438 --- 198 --- --- 16 --- NCOA5 57727 broad.mit.edu 37 20 44691334 44691334 + Frame_Shift_Del DEL T - - TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdc436cf-a5db-4b03-8d89-4104d381fa07 1b1c73a4-cd06-4316-957c-e37b5fc39815 g.chr20:44691334delT uc002xrd.3 - 6 1873 c.1345delA c.(1345-1347)agcfs p.S449fs NCOA5_uc002xrc.3_3'UTR|NCOA5_uc002xre.3_Frame_Shift_Del_p.S449fs NM_020967 NP_066018 Q9HCD5 NCOA5_HUMAN Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA. 449 regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus ATP binding|aminoacyl-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) GATGCAGAGCTGCTATTGGCC 0.552 --- 353 --- --- 28 ---