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 PRAMEF2 65122 broad.mit.edu 37 1 12919080 12919080 + Silent SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr1:12919080G>A uc001aum.1 + 1 303 c.216G>A c.(214-216)acG>acA p.T72T NM_023014 NP_075390 O60811 PRAM2_HUMAN Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. 72 T -> R (in dbSNP:rs9659529). 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) TGATGAAGACGCTTCATCTGG 0.552 SPEN 23013 broad.mit.edu 37 1 16199442 16199442 + Missense_Mutation SNP G G C TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr1:16199442G>C uc001axk.1 + 1 419 c.215G>C c.(214-216)aGa>aCa p.R72T SPEN_uc010obp.1_5'Flank NM_015001 NP_055816 Q96T58 MINT_HUMAN Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA. 72 RRM 1. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA 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) ATGGGTGACAGAGACCTACGC 0.493 TCEA3 6920 broad.mit.edu 37 1 23720438 23720438 + Silent SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr1:23720438G>A uc021oig.1 - 7 888 c.753C>T c.(751-753)ccC>ccT p.P251P TCEA3_uc009vqm.2_Silent_p.P20P NM_003196 NP_003187 O75764 TCEA3_HUMAN Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA. 251 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) GCCGCAGGCCGGGGTTCCTGG 0.597 MPL 4352 broad.mit.edu 37 1 43817970 43817970 + Missense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr1:43817970G>A uc001ciw.3 + 10 1694 c.1649G>A c.(1648-1650)aGc>aAc p.S550N MPL_uc009vwr.3_Missense_Mutation_p.S543N NM_005373 NP_005364 P40238 TPOR_HUMAN Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA. 550 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) GCAGCCCTGAGCCCGGTGAGT 0.607 Mis MPD MPD congenital amegakaryocytic thrombocytopenia DAB1 1600 broad.mit.edu 37 1 57480758 57480758 + Silent SNP C C T rs147876561 byFrequency TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr1:57480758C>T uc009vzx.1 - 11 1562 c.1242G>A c.(1240-1242)acG>acA p.T414T DAB1_uc001cyt.1_Silent_p.T412T|DAB1_uc001cyq.1_Silent_p.T412T|DAB1_uc001cyr.1_Silent_p.T328T|DAB1_uc009vzw.1_Silent_p.T396T|DAB1_uc001cys.1_Silent_p.T414T NM_021080 NP_066566 O75553 DAB1_HUMAN Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA. 447 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 AATCCTTAAACGTTTCTTTGC 0.602 DCLRE1B 64858 broad.mit.edu 37 1 114454524 114454524 + Missense_Mutation SNP C C G TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr1:114454524C>G uc001eeg.3 + 3 1604 c.1310C>G c.(1309-1311)tCt>tGt p.S437C DCLRE1B_uc001eeh.3_Intron|DCLRE1B_uc001eei.3_Missense_Mutation_p.S311C NM_022836 NP_073747 Q9H816 DCR1B_HUMAN Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA. 437 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) 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) CACTTAAGGTCTACAGATGAG 0.473 Other identified genes with known or suspected DNA repair function CD1D 912 broad.mit.edu 37 1 158151257 158151257 + Frame_Shift_Del DEL T T - TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr1:158151257delT uc001frr.3 + 2 573 c.74delT c.(73-75)cttfs p.L25fs CD1D_uc009wsr.1_Frame_Shift_Del_p.L25fs|CD1D_uc009wss.3_Frame_Shift_Del_p.L25fs|CD1D_uc009wst.1_Intron NM_001766 NP_001757 P15813 CD1D_HUMAN Homo sapiens CD1d molecule (CD1D), mRNA. 25 antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) CCGCAAAGGCTTTTCCCCCTC 0.592 CRB1 23418 broad.mit.edu 37 1 197313558 197313558 + Missense_Mutation SNP C C A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr1:197313558C>A uc001gtz.3 + 2 1009 c.800C>A c.(799-801)gCc>gAc p.A267D CRB1_uc010poz.2_Missense_Mutation_p.A198D|CRB1_uc001gty.2_Missense_Mutation_p.A267D|CRB1_uc009wza.3_Intron|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.A267D|CRB1_uc010ppc.1_Non-coding_Transcript NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 267 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 p.C266C(2) 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 GATGAGTGTGCCAGTCAACCT 0.512 IGFN1 91156 broad.mit.edu 37 1 201190709 201190709 + Missense_Mutation SNP C C T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr1:201190709C>T uc001gwc.3 + 18 10166 c.10036C>T c.(10036-10038)Ctc>Ttc p.L3346F IGFN1_uc001gwb.3_Non-coding_Transcript NM_001164586 NP_001158058 Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA. autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CTCAGACAGTCTCCAGTGGCT 0.632 TLR5 7100 broad.mit.edu 37 1 223285038 223285038 + Missense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr1:223285038G>A uc021pjl.1 - 0 1336 c.1336C>T c.(1336-1338)Cgg>Tgg p.R446W TLR5_uc001hnv.2_Missense_Mutation_p.R446W|TLR5_uc001hnw.2_Missense_Mutation_p.R446W NM_003268 NP_003259 O60602 TLR5_HUMAN Homo sapiens toll-like receptor 5 (TLR5), mRNA. 446 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) TGAGGTACCCGTAGGAGAAAG 0.403 C1orf150 148823 broad.mit.edu 37 1 247712504 247712504 + Missense_Mutation SNP A A T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr1:247712504A>T uc001idf.3 + 0 158 c.11A>T c.(10-12)tAt>tTt p.Y4F C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron NM_145278 NP_660321 Q5JQS6 CA150_HUMAN Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA. 4 p.N3K(1) breast(1)|large_intestine(2)|lung(10)|skin(2) 15 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;0.0241) ATGGGAAATTATCTCCTGCGA 0.473 CDH23 64072 broad.mit.edu 37 10 73567464 73567464 + Missense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr10:73567464G>A uc001jrx.4 + 56 8881 c.8491G>A c.(8491-8493)Gtt>Att p.V2831I CDH23_uc001jsg.4_Missense_Mutation_p.V594I|CDH23_uc001jsh.4_Missense_Mutation_p.V594I|CDH23_uc001jsi.4_Missense_Mutation_p.V594I NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 2834 Cadherin 26. 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 GGAGGTGCGCGTTGTGCTAGA 0.632 MYOF 26509 broad.mit.edu 37 10 95119651 95119651 + Missense_Mutation SNP C C T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr10:95119651C>T uc001kin.3 - 28 3182 c.3059G>A c.(3058-3060)cGg>cAg p.R1020Q MYOF_uc001kio.3_Missense_Mutation_p.R1007Q|MYOF_uc009xue.3_Non-coding_Transcript NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA. 1020 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CAGCCTTCGCCGTCTATGAGT 0.502 OR51V1 283111 broad.mit.edu 37 11 5221570 5221570 + Missense_Mutation SNP A A T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr11:5221570A>T uc010qyz.2 - 0 361 c.361T>A c.(361-363)Tcc>Acc p.S121T NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA. 121 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) AGGACAGAGGACTCCATGAAG 0.473 OR10A3 26496 broad.mit.edu 37 11 7960995 7960995 + Missense_Mutation SNP C C T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr11:7960995C>T uc010rbi.2 - 0 73 c.73G>A c.(73-75)Gtg>Atg p.V25M NM_001003745 NP_001003745 P58181 O10A3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA. 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAGAGCTGCACCTGGAGCTCA 0.413 INSC 387755 broad.mit.edu 37 11 15198673 15198673 + Missense_Mutation SNP T T C TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr11:15198673T>C uc001mlz.3 + 3 530 c.419T>C c.(418-420)aTg>aCg p.M140T INSC_uc001mly.3_Missense_Mutation_p.M187T|INSC_uc001mma.3_Missense_Mutation_p.M140T|INSC_uc010rcs.2_Missense_Mutation_p.M140T|INSC_uc001mmb.3_Missense_Mutation_p.M140T|INSC_uc001mmc.3_Missense_Mutation_p.M140T NM_001042536 NP_001036001 Q1MX18 INSC_HUMAN Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA. 187 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 AAGCTGCTAATGGAGAAATGC 0.493 OR1S1 219959 broad.mit.edu 37 11 57982888 57982888 + Silent SNP T T C TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr11:57982888T>C uc010rkc.2 + 0 672 c.672T>C c.(670-672)ttT>ttC p.F224F NM_001004458 NP_001004458 Q8NH92 OR1S1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA. 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) TCTTCCCCTTTACACTCAGCT 0.453 MMP27 64066 broad.mit.edu 37 11 102575419 102575419 + Missense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr11:102575419G>A uc001phd.1 - 1 213 c.190C>T c.(190-192)Cgg>Tgg p.R64W NM_022122 NP_071405 Q9H306 MMP27_HUMAN Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA. 64 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.R64W(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) TGCATTTCCCGAATTTTGTCA 0.428 KDELC2 143888 broad.mit.edu 37 11 108345675 108345675 + Missense_Mutation SNP T T A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr11:108345675T>A uc001pkj.2 - 7 1469 c.1403A>T c.(1402-1404)tAt>tTt p.Y468F KDELC2_uc001pki.2_Missense_Mutation_p.Y412F NM_153705 NP_714916 Q7Z4H8 KDEL2_HUMAN Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA. 468 endoplasmic reticulum lumen breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) GCGCTCGGCATATTTCTGAAA 0.507 CLEC7A 64581 broad.mit.edu 37 12 10277922 10277922 + Missense_Mutation SNP G G C TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr12:10277922G>C uc001qxg.2 - 3 653 c.466C>G c.(466-468)Cta>Gta p.L156V CLEC7A_uc001qxe.3_Non-coding_Transcript|CLEC7A_uc001qxf.2_Missense_Mutation_p.L110V|CLEC7A_uc001qxh.2_Missense_Mutation_p.L110V|CLEC7A_uc001qxi.2_Missense_Mutation_p.L156V|CLEC7A_uc001qxj.2_Missense_Mutation_p.L77V|CLEC7A_uc001qxk.1_Non-coding_Transcript|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc021quz.1_Missense_Mutation_p.L110V|CLEC7A_uc021qva.1_Missense_Mutation_p.L110V NM_197947 NP_922938 Q9BXN2 CLC7A_HUMAN Homo sapiens C-type lectin domain family 7, member A (CLEC7A), transcript variant 1, mRNA. 156 C-type lectin. carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation cytoplasm|integral to membrane metal ion binding|MHC protein binding|sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 7 TCTATCTTTAGGAGATTAGAG 0.383 KLRC2 3823 broad.mit.edu 37 12 10587963 10587963 + Silent SNP G G T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr12:10587963G>T uc001qyh.3 - 1 241 c.234C>A c.(232-234)atC>atA p.I78I KLRC2_uc010she.1_Silent_p.I78I|KLRC2_uc001qyk.2_Silent_p.I78I NM_002261 NP_002252 P26717 NKG2C_HUMAN Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA. 78 cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 CAATGCAAATGATTCCTAGGA 0.428 HDAC7 51564 broad.mit.edu 37 12 48181754 48181754 + Translation_Start_Site SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr12:48181754G>A uc010slo.2 - HDAC7_uc001rqe.3_Intron|HDAC7_uc001rqj.4_Intron|HDAC7_uc001rqk.4_Intron|HDAC7_uc010slp.2_5'UTR NM_015401 NP_056216 Q8WUI4 HDAC7_HUMAN Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA. negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) cacacagctcgtcatgacaga 0.572 METTL1 4234 broad.mit.edu 37 12 58162873 58162873 + Missense_Mutation SNP C C T rs140194153 byFrequency TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr12:58162873C>T uc010ssd.2 - 5 785 c.737G>A c.(736-738)cGt>cAt p.R246H CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.3_3'UTR NM_005371 NP_005362 Q9UBP6 TRMB_HUMAN Homo sapiens methyltransferase like 1 (METTL1), transcript variant 1, mRNA. 246 cytoplasm|nucleus protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.211) CCCTCCATTACGTAGAACTTT 0.532 LRRIQ1 84125 broad.mit.edu 37 12 85459186 85459186 + Silent SNP T T C TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr12:85459186T>C uc001tac.3 + 8 2649 c.2538T>C c.(2536-2538)gaT>gaC p.D846D LRRIQ1_uc021rbo.1_Silent_p.D724D NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA. 846 p.D846N(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) AGTACATTGATGCACAGGTAT 0.333 KIAA1033 23325 broad.mit.edu 37 12 105519878 105519878 + Missense_Mutation SNP A A G TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr12:105519878A>G uc010swr.2 + 10 970 c.883A>G c.(883-885)Att>Gtt p.I295V KIAA1033_uc001tld.3_Missense_Mutation_p.I295V|KIAA1033_uc010sws.2_Missense_Mutation_p.I107V NM_015275 NP_056090 Q2M389 WAHS7_HUMAN Homo sapiens KIAA1033 (KIAA1033), mRNA. 295 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 TATTCGGTCAATTTTTGCAAA 0.308 DYNC1H1 1778 broad.mit.edu 37 14 102514280 102514280 + Missense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr14:102514280G>A uc001yks.2 + 72 13297 c.13133G>A c.(13132-13134)cGg>cAg p.R4378Q NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 4378 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GCCTGGATGCGGACACTGCAC 0.612 NRG4 145957 broad.mit.edu 37 15 76301577 76301577 + Missense_Mutation SNP C C A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr15:76301577C>A uc002bbo.3 - 2 250 c.68G>T c.(67-69)tGt>tTt p.C23F NRG4_uc010bkm.1_Non-coding_Transcript|NRG4_uc002bbp.2_Non-coding_Transcript NM_138573 NP_612640 Q8WWG1 NRG4_HUMAN Homo sapiens neuregulin 4 (NRG4), mRNA. 23 EGF-like. extracellular region|integral to membrane|plasma membrane growth factor activity large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 5 TATCACATAACAAAGCCCCCC 0.388 SRRM2 23524 broad.mit.edu 37 16 2812703 2812703 + Missense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr16:2812703G>A uc002crk.3 + 10 2723 c.2174G>A c.(2173-2175)gGc>gAc p.G725D SRRM2_uc002crj.1_Missense_Mutation_p.G629D|SRRM2_uc002crl.1_Missense_Mutation_p.G725D|SRRM2_uc010bsu.1_Missense_Mutation_p.G629D NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 725 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding p.S724fs*27(1) 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 GGCAGATCTGGCTCATCTTCA 0.463 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + Missense_Mutation SNP T T G TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr16:32890622T>G uc002edh.1 - 4 440 c.264A>C c.(262-264)aaA>aaC p.K88N SLC6A10P_uc002edi.1_Non-coding_Transcript Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA. CGTTGGTGTTTTTGTAGACCA 0.617 CHD9 80205 broad.mit.edu 37 16 53276816 53276816 + Missense_Mutation SNP G G T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr16:53276816G>T uc002ehb.3 + 11 3106 c.2942G>T c.(2941-2943)gGa>gTa p.G981V CHD9_uc002egy.3_Missense_Mutation_p.G981V|CHD9_uc002ehc.3_Missense_Mutation_p.G981V|CHD9_uc002ehf.3_Missense_Mutation_p.G95V|CHD9_uc002ehg.2_Missense_Mutation_p.G95V|CHD9_uc002ehd.2_Missense_Mutation_p.G507V|CHD9_uc002ehe.1_Missense_Mutation_p.G95V NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA. 981 Helicase ATP-binding. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) ATGATTCTTGGAGGCTGTGGA 0.363 CDYL2 124359 broad.mit.edu 37 16 80718602 80718602 + Missense_Mutation SNP T T C TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr16:80718602T>C uc002ffs.3 - 1 554 c.449A>G c.(448-450)aAa>aGa p.K150R NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA. 150 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 CTGAGACTTTTTCAGGGGCAT 0.512 MAP2K3 5606 broad.mit.edu 37 17 21205510 21205510 + Missense_Mutation SNP G G A rs148304866 TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr17:21205510G>A uc002gys.3 + 5 720 c.455G>A c.(454-456)cGg>cAg p.R152Q MAP2K3_uc002gyt.3_Missense_Mutation_p.R123Q|MAP2K3_uc021tsq.1_Missense_Mutation_p.R123Q|MAP2K3_uc021tsr.1_Missense_Mutation_p.R123Q NM_145109 NP_002747 P46734 MP2K3_HUMAN Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA. 152 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) AAGTTCTACCGGAAGGTGCTG 0.592 NOS2 4843 broad.mit.edu 37 17 26094858 26094858 + Silent SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr17:26094858G>A uc002gzu.3 - 17 2304 c.2040C>T c.(2038-2040)gcC>gcT p.A680A NOS2_uc010wab.1_Silent_p.A645A NM_000625 NP_000616 P35228 NOS2_HUMAN Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA. 680 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding p.A679S(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) ACGTCTCACAGGCTGCCTGGA 0.572 EVI2B 2124 broad.mit.edu 37 17 29632208 29632208 + Missense_Mutation SNP C C A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr17:29632208C>A uc010csq.2 - 2 648 c.465G>T c.(463-465)aaG>aaT p.K155N NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.K140N|EVI2B_uc021tuk.1_Missense_Mutation_p.K140N NM_006495 NP_006486 P34910 EVI2B_HUMAN Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA. 140 cytoplasm|integral to plasma membrane p.0?(8)|p.?(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) AGACAAATGACTTTGGTGGTT 0.438 EVI2B 2124 broad.mit.edu 37 17 29632210 29632210 + Missense_Mutation SNP T T G TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr17:29632210T>G uc010csq.2 - 2 646 c.463A>C c.(463-465)Aag>Cag p.K155Q NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.K140Q|EVI2B_uc021tuk.1_Missense_Mutation_p.K140Q NM_006495 NP_006486 P34910 EVI2B_HUMAN Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA. 140 cytoplasm|integral to plasma membrane p.0?(8)|p.?(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) ACAAATGACTTTGGTGGTTGT 0.438 PEX12 5193 broad.mit.edu 37 17 33904178 33904178 + Nonsense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr17:33904178G>A uc002hjp.3 - 1 1175 c.559C>T c.(559-561)Cag>Tag p.Q187* NM_000286 NP_000277 O00623 PEX12_HUMAN Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA. 187 protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding p.Q187Q(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8) 18 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GAGTGATGCTGAGCTTTTCCT 0.493 TEX14 56155 broad.mit.edu 37 17 56699012 56699012 + Nonsense_Mutation SNP C C A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr17:56699012C>A uc010dcz.2 - 5 672 c.554_splice c.e5+1 p.G185_splice TEX14_uc002iwr.2_Splice_Site_p.G185_splice|TEX14_uc002iws.2_Splice_Site_p.G185_splice|TEX14_uc010dda.2_Splice_Site NM_001201457 NP_001188386 Q8IWB6 TEX14_HUMAN Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA. 185 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGTACTCACCCCTGCACGAGG 0.612 TIMM44 10469 broad.mit.edu 37 19 7998999 7998999 + Missense_Mutation SNP G G T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr19:7998999G>T uc002miz.3 - 4 690 c.518C>A c.(517-519)aCa>aAa p.T173K TIMM44_uc010dvx.2_Non-coding_Transcript NM_006351 NP_006342 O43615 TIM44_HUMAN Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA. 173 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 GAAGGCCGCTGTCCTGCCCAG 0.677 SLC44A2 57153 broad.mit.edu 37 19 10748353 10748353 + Missense_Mutation SNP C C T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr19:10748353C>T uc002mpf.3 + 16 1764 c.1625C>T c.(1624-1626)aCc>aTc p.T542I SLC44A2_uc002mpe.4_Missense_Mutation_p.T540I|SLC44A2_uc002mpg.1_Missense_Mutation_p.T262I|SLC44A2_uc002mph.3_Missense_Mutation_p.T91I|SLC44A2_uc002mpi.3_5'Flank NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA. 542 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) TGCCTCATGACCTGTCTCAAA 0.527 ZNF709 163051 broad.mit.edu 37 19 12575471 12575471 + Missense_Mutation SNP C C T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr19:12575471C>T uc002mtv.4 - 3 1426 c.1265G>A c.(1264-1266)tGt>tAt p.C422Y ZNF709_uc002mtw.4_Missense_Mutation_p.C390Y|ZNF709_uc002mtx.4_Missense_Mutation_p.C422Y NM_152601 NP_689814 Q8N972 ZN709_HUMAN Homo sapiens zinc finger protein 709 (ZNF709), mRNA. 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 ACATTGTTTACATTCATGGGG 0.408 ZNF570 148268 broad.mit.edu 37 19 37975633 37975633 + Missense_Mutation SNP G G A rs146360083 TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr19:37975633G>A uc010efl.1 + 5 1396 c.1277G>A c.(1276-1278)cGt>cAt p.R426H ZNF570_uc002ogk.1_Missense_Mutation_p.R370H|ZNF570_uc010xtr.1_Missense_Mutation_p.R167H NM_144694 NP_653295 Q96NI8 ZN570_HUMAN Homo sapiens zinc finger protein 570 (ZNF570), mRNA. 370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTAGCCTTCGTGCATACCTT 0.423 ARHGAP35 2909 broad.mit.edu 37 19 47422855 47422855 + Missense_Mutation SNP A A G TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr19:47422855A>G uc010ekv.3 + 0 923 c.923A>G c.(922-924)tAt>tGt p.Y308C NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA. 308 FF 1. 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 TACCAGGACTATGTCTACCTG 0.502 LILRA5 353514 broad.mit.edu 37 19 54823844 54823844 + Silent SNP G G A rs143927346 byFrequency TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr19:54823844G>A uc002qfe.3 - 1 171 c.51C>T c.(49-51)gaC>gaT p.D17D LILRA5_uc002qff.3_Silent_p.D17D|LILRA5_uc010yev.2_Silent_p.D17D|LILRA5_uc010yew.2_Silent_p.D17D|LILRA5_uc002qfg.1_Silent_p.D17D|LILRA5_uc002qfh.1_Silent_p.D17D NM_021250 NP_067073 A6NI73 LIRA5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA. 17 innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGCTCACGGCGTCTCCTCCCA 0.632 EPAS1 2034 broad.mit.edu 37 2 46609718 46609718 + Silent SNP G G A rs4953362 byFrequency TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr2:46609718G>A uc002ruv.3 + 14 2952 c.2442G>A c.(2440-2442)tcG>tcA p.S814S EPAS1_uc002ruw.3_Silent_p.S280S NM_001430 NP_001421 Q99814 EPAS1_HUMAN Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA. 814 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) ACAGCCTGTCGTCAGCCCACA 0.607 ANKRD36 375248 broad.mit.edu 37 2 97869931 97869931 + Missense_Mutation SNP A A T rs76309140 TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr2:97869931A>T uc010yva.2 + 49 3236 c.2992A>T c.(2992-2994)Aca>Tca p.T998S ANKRD36_uc002sxp.3_Non-coding_Transcript NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA. 998 p.T998S(13) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CATTCAGGCTACAAGTGATGA 0.289 DARS 1615 broad.mit.edu 37 2 136682064 136682074 + Splice_Site DEL GATGTCTAGAA GATGTCTAGAA - TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr2:136682064_136682074delGATGTCTAGAA uc002tux.1 - 8 749 c.565_splice c.e8-1 p.T189_splice DARS_uc010fnj.1_Splice_Site_p.T89_splice NM_001349 NP_001340 P14868 SYDC_HUMAN Homo sapiens aspartyl-tRNA synthetase (DARS), mRNA. 189 aspartyl-tRNA aminoacylation|protein complex assembly cytosol|nuclear membrane|plasma membrane|soluble fraction aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2) 15 BRCA - Breast invasive adenocarcinoma(221;0.168) L-Aspartic Acid(DB00128) CTGACTAGTTGATGTCTAGAAGACAGTAATA 0.374 THSD7B 80731 broad.mit.edu 37 2 138373761 138373761 + Missense_Mutation SNP C C T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr2:138373761C>T uc002tva.1 + 16 3350 c.3350C>T c.(3349-3351)aCa>aTa p.T1117I THSD7B_uc010zbj.1_Intron 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) GATCCCCACACAATGCAGAGA 0.418 FAP 2191 broad.mit.edu 37 2 163074520 163074520 + Missense_Mutation SNP T T A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr2:163074520T>A uc002ucd.3 - 8 946 c.738A>T c.(736-738)agA>agT p.R246S FAP_uc010zct.2_Missense_Mutation_p.R221S|FAP_uc010fpe.1_Missense_Mutation_p.R213S NM_004460 NP_004451 Q12884 SEPR_HUMAN Homo sapiens fibroblast activation protein, alpha (FAP), mRNA. 246 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity p.P245L(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 TATTTATTGTTCTAGGATATT 0.353 DHRS9 10170 broad.mit.edu 37 2 169939876 169939876 + Silent SNP C C T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr2:169939876C>T uc010zdc.2 + 2 643 c.531C>T c.(529-531)ggC>ggT p.G177G DHRS9_uc002uep.3_Silent_p.G117G|DHRS9_uc002ueq.3_Silent_p.G117G|DHRS9_uc010zdd.2_Silent_p.G117G|DHRS9_uc010zde.2_Silent_p.G117G NM_199204 NP_954674 Q9BPW9 DHRS9_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA. 117 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 GTGTTCCCGGCGTGCTGGCTC 0.468 TTN 7273 broad.mit.edu 37 2 179599471 179599471 + Silent SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr2:179599471G>A uc021vsy.1 - 47 11673 c.11448C>T c.(11446-11448)gtC>gtT p.V3816V TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V477V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4743 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V3816V(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) TATCACTGCCGACGTCATTCA 0.363 DGKD 8527 broad.mit.edu 37 2 234363420 234363420 + Missense_Mutation SNP C C G TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr2:234363420C>G uc002vui.1 + 18 2288 c.2276C>G c.(2275-2277)aCg>aGg p.T759R DGKD_uc002vuj.1_Missense_Mutation_p.T715R|DGKD_uc010fyh.1_Missense_Mutation_p.T626R|DGKD_uc010fyi.1_Non-coding_Transcript NM_152879 NP_690618 Q16760 DGKD_HUMAN Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA. 759 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GAGTATTACACGGAGAAATGT 0.453 PCSK2 5126 broad.mit.edu 37 20 17446060 17446060 + Missense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr20:17446060G>A uc002wpm.3 + 10 1646 c.1292G>A c.(1291-1293)cGc>cAc p.R431H PCSK2_uc002wpl.3_Missense_Mutation_p.R412H|PCSK2_uc010zrm.2_Missense_Mutation_p.R396H|PCSK2_uc002wpn.3_Missense_Mutation_p.R85H NM_002594 NP_001188457 P16519 NEC2_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA. 431 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity p.R431C(1)|p.R430Q(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGTGGCGGCGCAATGGGGTC 0.567 SYCP2 10388 broad.mit.edu 37 20 58444912 58444912 + Missense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr20:58444912G>A uc002yaz.3 - 34 3821 c.3682C>T c.(3682-3684)Cgg>Tgg p.R1228W NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA. 1228 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) TCCATAAACCGTTCTTCTGAA 0.294 KRTAP10-7 386675 broad.mit.edu 37 21 46021295 46021295 + Silent SNP A A C TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr21:46021295A>C uc002zfn.4 + 1 784 c.759A>C c.(757-759)ccA>ccC p.P253P TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198689 NP_941962 P60409 KR107_HUMAN Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA. 258 30 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 GCTGCCAGCCAGCTTGCTGCA 0.632 LZTR1 8216 broad.mit.edu 37 22 21342314 21342314 + Missense_Mutation SNP A A C TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr22:21342314A>C uc002zto.3 + 4 519 c.416A>C c.(415-417)gAc>gCc p.D139A LZTR1_uc002ztn.3_Missense_Mutation_p.D98A|LZTR1_uc011ahy.2_Missense_Mutation_p.D120A|LZTR1_uc010gsr.1_Missense_Mutation_p.D10A NM_006767 NP_006758 Q8N653 LZTR1_HUMAN Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA. 139 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TACACTGGGGACATTTATTCC 0.453 MYO18B 84700 broad.mit.edu 37 22 26348345 26348345 + Missense_Mutation SNP G G C TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr22:26348345G>C uc003abz.1 + 37 6176 c.5926G>C c.(5926-5928)Gag>Cag p.E1976Q MYO18B_uc003aca.1_Missense_Mutation_p.E1857Q|MYO18B_uc010guy.1_Missense_Mutation_p.E1858Q|MYO18B_uc010guz.1_Missense_Mutation_p.E1856Q|MYO18B_uc011aka.1_Missense_Mutation_p.E1130Q|MYO18B_uc011akb.1_Missense_Mutation_p.E1489Q|MYO18B_uc010gva.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 1976 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CTGTGACCTAGAGAACAAGAC 0.517 SMC1B 27127 broad.mit.edu 37 22 45750854 45750854 + Missense_Mutation SNP G G C TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr22:45750854G>C uc003bgc.3 - 19 3155 c.3103C>G c.(3103-3105)Caa>Gaa p.Q1035E SMC1B_uc003bgd.3_Missense_Mutation_p.Q1035E NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA. 1035 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GTGGACTCTTGAAACTTGTCT 0.408 KCNH8 131096 broad.mit.edu 37 3 19574969 19574969 + Missense_Mutation SNP C C T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr3:19574969C>T uc003cbk.1 + 15 2897 c.2702C>T c.(2701-2703)cCt>cTt p.P901L KCNH8_uc010hex.1_Missense_Mutation_p.P362L NM_144633 NP_653234 Q96L42 KCNH8_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA. 901 integral to membrane two-component sensor activity p.S900T(1) 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 GTTCTGTCACCTCAGCAGCCA 0.493 NBEAL2 23218 broad.mit.edu 37 3 47041686 47041686 + Missense_Mutation SNP G G T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr3:47041686G>T uc003cqp.3 + 26 4276 c.4097G>T c.(4096-4098)gGa>gTa p.G1366V NBEAL2_uc010hjm.2_Splice_Site_p.G743_splice|NBEAL2_uc010hjn.2_5'Flank NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA. 1366 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) TCTAGTGTAGGATCAGGCAAC 0.637 CELSR3 1951 broad.mit.edu 37 3 48685382 48685382 + Missense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr3:48685382G>A uc003cuf.1 - 21 7231 c.7231C>T c.(7231-7233)Cgt>Tgt p.R2411C CELSR3_uc010hkg.3_Missense_Mutation_p.R324C|CELSR3_uc003cul.3_Missense_Mutation_p.R2341C NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 2341 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding p.L2411F(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGGTAGCGACGGGCCCCCCGG 0.632 DNAJC13 23317 broad.mit.edu 37 3 132217972 132217972 + Missense_Mutation SNP T T A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr3:132217972T>A uc003eor.3 + 36 4224 c.4159T>A c.(4159-4161)Tta>Ata p.L1387I NM_015268 NP_056083 O75165 DJC13_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA. 1387 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TATTTCAGATTTACAGCCTTA 0.328 NPHP3 84129 broad.mit.edu 37 3 132361623 132361623 + Missense_Mutation SNP C C A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr3:132361623C>A uc003eov.4 - 2 653 c.273G>T c.(271-273)caG>caT p.Q91H NM_032169 NP_115545 Q7Z494 NPHP3_HUMAN Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA. 511 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACAAGGCTTTCTGGACTTTAA 0.323 ATP11B 23200 broad.mit.edu 37 3 182559871 182559871 + Missense_Mutation SNP G G T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr3:182559871G>T uc003flb.3 + 7 922 c.665G>T c.(664-666)gGa>gTa p.G222V NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA. 222 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) AGATTCATGGGACGAATGATC 0.299 DNAH5 1767 broad.mit.edu 37 5 13717485 13717485 + Missense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr5:13717485G>A uc003jfd.2 - 72 12686 c.12644C>T c.(12643-12645)gCg>gTg p.A4215V DNAH5_uc003jfc.2_Missense_Mutation_p.A383V NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4215 AAA 6 (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) ATTAAAGTCCGCTTGGTTAAA 0.532 Kartagener syndrome C5orf42 65250 broad.mit.edu 37 5 37183582 37183582 + Silent SNP A A C TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr5:37183582A>C uc011cpa.1 - 25 4932 c.4701T>G c.(4699-4701)ccT>ccG p.P1567P C5orf42_uc011coy.1_Silent_p.P68P|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.P642P|C5orf42_uc011cpb.1_Silent_p.P448P NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 1567 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) CCCTGGAATAAGGTAGGTCTC 0.323 IRF1 3659 broad.mit.edu 37 5 131821402 131821402 + Missense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr5:131821402G>A uc003kxa.2 - 7 908 c.674C>T c.(673-675)aCa>aTa p.T225I C5orf56_uc010jds.2_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.T225I|IRF1_uc010jdt.2_Missense_Mutation_p.T225I NM_002198 NP_002189 P10914 IRF1_HUMAN Homo sapiens interferon regulatory factor 1 (IRF1), mRNA. 225 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) ATCCTCATCTGTTGTAGCTGT 0.542 DSP 1832 broad.mit.edu 37 6 7576571 7576571 + Missense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr6:7576571G>A uc003mxp.1 + 18 2954 c.2675G>A c.(2674-2676)cGt>cAt p.R892H DSP_uc003mxq.1_Missense_Mutation_p.R892H|DSP_uc021yle.1_Missense_Mutation_p.R892H NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 892 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) AGGAATTATCGTGATAACTAT 0.388 OR10C1 442194 broad.mit.edu 37 6 29408603 29408603 + Missense_Mutation SNP C C A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr6:29408603C>A uc011dlp.2 + 0 888 c.811C>A c.(811-813)Cct>Act p.P271T OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA. 271 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 GGCCACTGACCCTCTGGTGTC 0.552 ZNF318 24149 broad.mit.edu 37 6 43308071 43308072 + Frame_Shift_Del DEL TC TC - TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr6:43308071_43308072delTC uc003oux.3 - 9 3742_3743 c.3664_3665delGA c.(3664-3666)gaafs p.E1222fs ZNF318_uc003ouw.3_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN Homo sapiens zinc finger protein 318 (ZNF318), mRNA. 1222 Lys-rich. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTCCTTTACTTCTTTCACAGCC 0.450 FILIP1 27145 broad.mit.edu 37 6 76023523 76023523 + Missense_Mutation SNP G G C TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr6:76023523G>C uc010kbe.3 - 5 2564 c.2034C>G c.(2032-2034)aaC>aaG p.N678K FILIP1_uc003phy.1_Missense_Mutation_p.N675K|FILIP1_uc003phz.3_Missense_Mutation_p.N576K|FILIP1_uc003pia.3_Missense_Mutation_p.N675K|FILIP1_uc003pib.1_Missense_Mutation_p.N427K NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 675 p.S678S(1) 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 GAGAGAGGAAGTTAGCCTTAT 0.438 SDK1 221935 broad.mit.edu 37 7 4050626 4050626 + Silent SNP C C T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr7:4050626C>T uc003smx.3 + 14 2299 c.2160C>T c.(2158-2160)aaC>aaT p.N720N SDK1_uc010kso.3_5'UTR NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 720 Fibronectin type-III 1. 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) ATCTGTCAAACGTTGGCCCTG 0.512 PCLO 27445 broad.mit.edu 37 7 82579889 82579889 + Missense_Mutation SNP C C A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr7:82579889C>A uc003uhx.2 - 5 10304 c.10015G>T c.(10015-10017)Ggt>Tgt p.G3339C PCLO_uc003uhv.2_Missense_Mutation_p.G3339C|PCLO_uc010lec.3_Missense_Mutation_p.G304C NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3270 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 GCATACTGACCTTCCAAAATT 0.478 PCLO 27445 broad.mit.edu 37 7 82784328 82784328 + Silent SNP C C T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr7:82784328C>T uc003uhx.2 - 1 1918 c.1629G>A c.(1627-1629)caG>caA p.Q543Q PCLO_uc003uhv.2_Silent_p.Q543Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 489 Pro-rich. 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 CTGGGCTAGGCTGTTGAGCTG 0.547 ABCB4 5244 broad.mit.edu 37 7 87049323 87049323 + Missense_Mutation SNP C C T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr7:87049323C>T uc003uiv.1 - 18 2461 c.2385G>A c.(2383-2385)atG>atA p.M795I ABCB4_uc003uiw.1_Missense_Mutation_p.M795I|ABCB4_uc003uix.1_Missense_Mutation_p.M795I NM_018849 NP_061337 P21439 MDR3_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA. 795 ABC transmembrane type-1 2. cellular lipid metabolic process apical plasma membrane|Golgi 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) CCTGTCTTAGCATTGCTTTAA 0.428 PIK3CG 5294 broad.mit.edu 37 7 106523501 106523501 + Missense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr7:106523501G>A uc003vdv.4 + 7 2738 c.2653G>A c.(2653-2655)Gcc>Acc p.A885T PIK3CG_uc003vdu.3_Missense_Mutation_p.A885T|PIK3CG_uc003vdw.3_Missense_Mutation_p.A885T NM_002649 NP_002640 P48736 PK3CG_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA. 885 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 TGTGAAAGACGCCACGACAAT 0.478 ZNF282 8427 broad.mit.edu 37 7 148909483 148909483 + Missense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr7:148909483G>A uc003wfm.3 + 5 1091 c.986G>A c.(985-987)cGg>cAg p.R329Q ZNF282_uc011kun.1_Missense_Mutation_p.R329Q|ZNF282_uc003wfn.3_Missense_Mutation_p.R269Q|ZNF282_uc003wfo.3_Intron NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN Homo sapiens zinc finger protein 282 (ZNF282), mRNA. 329 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CTCTTGTCCCGGATTAAACAG 0.498 NCOA2 10499 broad.mit.edu 37 8 71057069 71057069 + Nonsense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr8:71057069G>A uc003xyn.1 - 12 2782 c.2620C>T c.(2620-2622)Cga>Tga p.R874* NCOA2_uc011lfb.1_Intron NM_006540 NP_006531 Q15596 NCOA2_HUMAN Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA. 874 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TGCCCTGGTCGTGGGTTATTA 0.388 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" PHF20L1 51105 broad.mit.edu 37 8 133806658 133806658 + Missense_Mutation SNP A A G TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr8:133806658A>G uc003ytt.3 + 2 411 c.86A>G c.(85-87)tAt>tGt p.Y29C PHF20L1_uc003ytr.3_Missense_Mutation_p.Y29C|PHF20L1_uc010mdv.3_Missense_Mutation_p.Y29C|PHF20L1_uc003yts.3_Missense_Mutation_p.Y29C|PHF20L1_uc011lja.2_Missense_Mutation_p.Y29C|PHF20L1_uc003ytu.1_Non-coding_Transcript NM_016018 NP_057102 A8MW92 P20L1_HUMAN Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA. 29 Tudor 1. nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) TTTTTGAGGTATCCATCACGA 0.338 SECISBP2 79048 broad.mit.edu 37 9 91973081 91973081 + Silent SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr9:91973081G>A uc004aqj.1 + 15 2516 c.2436G>A c.(2434-2436)ctG>ctA p.L812L SECISBP2_uc010mqo.1_Silent_p.L517L|SECISBP2_uc004aqk.1_Silent_p.L739L|SECISBP2_uc011ltk.1_Silent_p.L811L|SECISBP2_uc011ltl.1_Silent_p.L744L NM_024077 NP_076982 Q96T21 SEBP2_HUMAN Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA. 812 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 CCCCAGCCCTGAAAGAAAAAG 0.562 LAMC3 10319 broad.mit.edu 37 9 133927934 133927934 + Missense_Mutation SNP C C T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chr9:133927934C>T uc004caa.1 + 9 1785 c.1687C>T c.(1687-1689)Cgg>Tgg p.R563W NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN Homo sapiens laminin, gamma 3 (LAMC3), mRNA. 563 Laminin IV type A. cell adhesion basement membrane|membrane structural molecule activity p.F562S(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) ACTGACCTTCCGGGTGCCCCC 0.597 OREG0019556 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DCAF12L2 340578 broad.mit.edu 37 X 125299442 125299442 + Missense_Mutation SNP C C T TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chrX:125299442C>T uc004euk.2 - 0 639 c.466G>A c.(466-468)Gag>Aag p.E156K NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA. 156 p.E156K(2) 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 GGATTCAGCTCGATGGCATGG 0.682 PCDH11Y 83259 broad.mit.edu 37 Y 5605925 5605925 + Missense_Mutation SNP G G A TCGA-06-6697-01A-11D-1845-08 TCGA-06-6697-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d947ed1-1315-459e-b973-f3dd624d9e39 e9768b4f-626b-4f30-a864-af064338ed26 g.chrY:5605925G>A uc004fqo.3 + 4 4699 c.3965G>A c.(3964-3966)cGc>cAc p.R1322H PCDH11Y_uc022ciy.1_Non-coding_Transcript NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA. 1322 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TTCGCTCCACGCCAACAGGCC 0.408