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 B4GALT2 8704 broad.mit.edu 37 1 44450680 44450680 + Silent SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr1:44450680C>T uc001clg.2 + 4 1063 c.693C>T c.(691-693)GGC>GGT p.G231G B4GALT2_uc001clh.2_Silent_p.G165G|B4GALT2_uc010okl.1_Silent_p.G260G|B4GALT2_uc001cli.2_Silent_p.G231G NM_003780 NP_003771 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 231 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) ACCGCTGCGGCGACCAACCCC 0.612000 DMRTB1 63948 broad.mit.edu 37 1 53925206 53925206 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr1:53925206C>T uc001cvq.1 + 1 135 c.80C>T c.(79-81)GCG>GTG p.A27V NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 27 DM. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 AAGGGACACGCGGGCAAATGC 0.612000 ELTD1 64123 broad.mit.edu 37 1 79470902 79470902 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr1:79470902C>A uc001diq.3 - 2 181 c.25G>T c.(25-27)GTT>TTT p.V9F NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 9 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GTGGAAAAAACCACTAAATAA 0.318000 GJA8 2703 broad.mit.edu 37 1 147380211 147380211 + Silent SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr1:147380211C>T uc001epu.1 + 2 192 c.129C>T c.(127-129)TTC>TTT p.F43F NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 43 Helical; (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) CCGCAGAGTTCGTGTGGGGGG 0.592000 UBQLN4 56893 broad.mit.edu 37 1 156012626 156012626 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr1:156012626G>A uc001fna.2 - 7 1229 c.1205C>T c.(1204-1206)TCA>TTA p.S402L UBQLN4_uc010pgx.1_Missense_Mutation_p.S382L NM_020131 NP_064516 Q9NRR5 UBQL4_HUMAN ataxin-1 ubiquitin-like interacting protein 402 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding pancreas(1)|skin(1) 2 Hepatocellular(266;0.133)|all_neural(408;0.195) GTAGGGTGCTGAGATCACATT 0.522000 OR10J1 26476 broad.mit.edu 37 1 159409739 159409739 + Missense_Mutation SNP T T G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr1:159409739T>G uc010piv.1 + 1 191 c.191T>G c.(190-192)CTT>CGT p.L64R uc001fts.3_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, 64 Cytoplasmic (Potential). sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0429) CGAATGGATCTTCATCTTCAC 0.448000 FCRLB 127943 broad.mit.edu 37 1 161693378 161693378 + Missense_Mutation SNP G G A rs147870526 TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr1:161693378G>A uc001gbh.2 + 5 508 c.274G>A c.(274-276)GTC>ATC p.V92I FCRLB_uc009wus.2_Missense_Mutation_p.V92I|FCRLB_uc001gbj.2_Missense_Mutation_p.V92I|FCRLB_uc001gbk.2_Missense_Mutation_p.V92I|FCRLB_uc001gbl.2_Missense_Mutation_p.V85I|FCRLB_uc001gbm.2_Missense_Mutation_p.V85I|FCRLB_uc001gbi.2_Missense_Mutation_p.V92I|FCRLB_uc001gbn.3_5'Flank NM_001002901 NP_001002901 Q6BAA4 FCRLB_HUMAN Fc receptor-like B 92 Ig-like C2-type 1. endoplasmic reticulum 0 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) GGGAGCACCCGTCAGTGACCC 0.577000 KIAA1383 54627 broad.mit.edu 37 1 232943384 232943384 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr1:232943384C>T uc001hvh.2 + 1 2747 c.2615C>T c.(2614-2616)TCA>TTA p.S872L NM_019090 NP_061963 Q9P2G4 K1383_HUMAN hypothetical protein LOC54627 730 Ser-rich. ovary(1) 1 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) GATAGCAGTTCAAGGACAGAA 0.393000 KIF26B 55083 broad.mit.edu 37 1 245850350 245850350 + Silent SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr1:245850350C>A uc001ibf.1 + 12 4505 c.4065C>A c.(4063-4065)GCC>GCA p.A1355A KIF26B_uc001ibg.1_Silent_p.A973A|KIF26B_uc001ibh.1_Silent_p.A597A NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 1355 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) ACAAAGCAGCCCCCATCAAAG 0.547000 AHCTF1 25909 broad.mit.edu 37 1 247004253 247004253 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr1:247004253C>T uc001ibu.1 - 35 6663 c.6656G>A c.(6655-6657)CGG>CAG p.R2219Q AHCTF1_uc001ibv.1_Missense_Mutation_p.R2228Q|AHCTF1_uc009xgs.1_Silent_p.S1052S NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 2219 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) GGAAATCAGCCGAATTTCTAT 0.393000 ANK3 288 broad.mit.edu 37 10 62021617 62021617 + Missense_Mutation SNP C C G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr10:62021617C>G uc001jky.2 - 7 990 c.798G>C c.(796-798)AGG>AGC p.R266S ANK3_uc010qih.1_Missense_Mutation_p.R249S|ANK3_uc001jkz.3_Missense_Mutation_p.R260S|ANK3_uc001jlb.1_5'UTR NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 266 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 GTGCTCTTACCCTTGCGGTGA 0.443000 HERC4 26091 broad.mit.edu 37 10 69750049 69750049 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr10:69750049C>A uc001jng.3 - 14 1863 c.1552G>T c.(1552-1554)GAT>TAT p.D518Y HERC4_uc009xpq.2_Missense_Mutation_p.D59Y|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.D518Y|HERC4_uc009xpr.2_Missense_Mutation_p.D518Y|HERC4_uc001jni.3_Missense_Mutation_p.D262Y|HERC4_uc001jnj.2_Missense_Mutation_p.D518Y NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN hect domain and RLD 4 isoform a 518 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity ovary(1)|breast(1)|skin(1) 3 TTGTTGGAATCACTCATCAGG 0.368000 GBF1 8729 broad.mit.edu 37 10 104125283 104125283 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr10:104125283C>T uc001kux.1 + 18 2473 c.2233C>T c.(2233-2235)CGG>TGG p.R745W GBF1_uc001kuy.1_Missense_Mutation_p.R745W|GBF1_uc001kuz.1_Missense_Mutation_p.R746W NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 745 SEC7. COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) AGAGAACCCTCGGCTGGACAA 0.488000 OR52J3 119679 broad.mit.edu 37 11 5068218 5068218 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr11:5068218G>A uc010qyv.1 + 1 463 c.463G>A c.(463-465)GTT>ATT p.V155I NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 155 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|lung(1)|skin(1) 3 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) AATTCGTCCCGTTTTACTTAC 0.463000 FAM160A2 84067 broad.mit.edu 37 11 6232859 6232859 + Silent SNP A A G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr11:6232859A>G uc001mcl.3 - 12 3155 c.2796T>C c.(2794-2796)CCT>CCC p.P932P FAM160A2_uc001mck.3_Silent_p.P946P NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 932 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 TGAGAAATTCAGGGAAAATGA 0.557000 RBMXL2 27288 broad.mit.edu 37 11 7111495 7111495 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr11:7111495C>T uc001mfc.2 + 1 1331 c.1144C>T c.(1144-1146)CGC>TGC p.R382C NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 382 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCTAGGAGGCCGCTTGGAGAG 0.567000 SLC17A6 57084 broad.mit.edu 37 11 22399153 22399153 + Missense_Mutation SNP G G T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr11:22399153G>T uc001mqk.2 + 12 2029 c.1616G>T c.(1615-1617)GGT>GTT p.G539V NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 539 Cytoplasmic (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 ATAAATTATGGTACCACCAAG 0.408000 OR5AR1 219493 broad.mit.edu 37 11 56431542 56431542 + Nonsense_Mutation SNP T T A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr11:56431542T>A uc010rjm.1 + 1 381 c.381T>A c.(379-381)TGT>TGA p.C127* NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 127 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGGCCATTTGTCGACCCCTCC 0.517000 CASP1 834 broad.mit.edu 37 11 104900494 104900494 + Missense_Mutation SNP C C G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr11:104900494C>G uc010rve.1 - 6 777 c.760G>C c.(760-762)GAT>CAT p.D254H CASP1_uc001pig.2_Missense_Mutation_p.D161H|CASP1_uc001pik.2_Missense_Mutation_p.D217H|CASP1_uc010rvf.1_Missense_Mutation_p.D161H|CASP1_uc010rvg.1_Missense_Mutation_p.D233H|CASP1_uc010rvh.1_Missense_Mutation_p.D161H|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Missense_Mutation_p.D254H|CASP1_uc009yxi.2_Missense_Mutation_p.D233H|CASP1_uc010rvj.1_Missense_Mutation_p.D254H|CASP1_uc009yxj.2_Missense_Mutation_p.D99H|CASP1_uc010rvk.1_Missense_Mutation_p.D215H NM_033292 NP_150634 P29466 CASP1_HUMAN caspase 1 isoform alpha precursor 254 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 ovary(2) 2 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) TGTAGTATATCTGGGACTTGC 0.483000 SIK2 23235 broad.mit.edu 37 11 111571702 111571702 + Nonsense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr11:111571702C>T uc001plt.2 + 5 689 c.571C>T c.(571-573)CAG>TAG p.Q191* NM_015191 NP_056006 Q9H0K1 SIK2_HUMAN SNF1-like kinase 2 191 Protein kinase. intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|skin(1) 3 CTTTGAAGGGCAGCAGTATGA 0.458000 RNF26 79102 broad.mit.edu 37 11 119206667 119206667 + Missense_Mutation SNP C C T rs150176910 TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr11:119206667C>T uc001pwh.2 + 1 1431 c.835C>T c.(835-837)CGC>TGC p.R279C NM_032015 NP_114404 Q9BY78 RNF26_HUMAN ring finger protein 26 279 zinc ion binding ovary(1) 1 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.8e-05) GCGGCTCTCTCGCCTAGCACT 0.672000 SORL1 6653 broad.mit.edu 37 11 121425952 121425952 + Silent SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr11:121425952G>A uc001pxx.2 + 18 2576 c.2496G>A c.(2494-2496)GAG>GAA p.E832E NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 832 Extracellular (Potential).|LDL-receptor class B 1. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 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) CTGGCCTGGAGACAGTAGAAG 0.433000 C12orf4 57102 broad.mit.edu 37 12 4600345 4600345 + Missense_Mutation SNP T T A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr12:4600345T>A uc001qms.2 - 12 1584 c.1496A>T c.(1495-1497)AAA>ATA p.K499I C12orf4_uc001qmt.2_Missense_Mutation_p.K499I NM_020374 NP_065107 Q9NQ89 CL004_HUMAN hypothetical protein LOC57102 499 0 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) ATGCTCACCTTTGACACACTT 0.393000 OR10AD1 121275 broad.mit.edu 37 12 48596917 48596917 + Missense_Mutation SNP G G T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr12:48596917G>T uc001rrl.1 - 1 159 c.159C>A c.(157-159)GAC>GAA p.D53E NM_001004134 NP_001004134 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, 53 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TGAGCTTGGGGTCTGTCCAGG 0.537000 OR10A7 121364 broad.mit.edu 37 12 55615590 55615590 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr12:55615590G>A uc010spf.1 + 1 782 c.782G>A c.(781-783)CGG>CAG p.R261Q NM_001005280 NP_001005280 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4) 4 ACCTACCTGCGGCCCAAATCA 0.522000 ATXN2 6311 broad.mit.edu 37 12 111926287 111926287 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr12:111926287C>A uc001tsj.2 - 15 2875 c.2713G>T c.(2713-2715)GCA>TCA p.A905S ATXN2_uc001tsh.2_Missense_Mutation_p.A640S|ATXN2_uc001tsi.2_Missense_Mutation_p.A616S|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.A91S NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 905 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 CACTCAGCTGCGTCTTTCTTC 0.443000 BRAP 8315 broad.mit.edu 37 12 112119584 112119584 + Silent SNP C C T rs142262681 byFrequency TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr12:112119584C>T uc001tsn.3 - 3 494 c.300G>A c.(298-300)GCG>GCA p.A100A BRAP_uc010syh.1_5'UTR|BRAP_uc009zvv.2_Silent_p.A70A NM_006768 NP_006759 Q7Z569 BRAP_HUMAN BRCA1 associated protein 100 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding lung(1) 1 TACTTCTTTGCGCAGTGGGGG 0.408000 ACADS 35 broad.mit.edu 37 12 121176172 121176172 + Silent SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr12:121176172G>A uc001tza.3 + 6 832 c.714G>A c.(712-714)ACG>ACA p.T238T ACADS_uc010szl.1_Silent_p.T234T|ACADS_uc001tzb.3_Silent_p.T165T NM_000017 NP_000008 P16219 ACADS_HUMAN short-chain acyl-CoA dehydrogenase precursor 238 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(2) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) GCTCATCCACGGCCAACCTCA 0.612000 DNAH10 196385 broad.mit.edu 37 12 124325995 124325995 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr12:124325995G>A uc001uft.3 + 29 4934 c.4909G>A c.(4909-4911)GTG>ATG p.V1637M NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1637 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 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) TGAAGGGCGCGTGGAGGACTG 0.453000 POLE 5426 broad.mit.edu 37 12 133256628 133256628 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr12:133256628C>A uc001uks.1 - 5 379 c.335G>T c.(334-336)TGT>TTT p.C112F POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.C85F NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 112 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TTCTCGCTCACAACCCTAATC 0.438000 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage CHFR 55743 broad.mit.edu 37 12 133435752 133435752 + Silent SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr12:133435752G>A uc001ulf.2 - 8 933 c.849C>T c.(847-849)ACC>ACT p.T283T CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Silent_p.T271T|CHFR_uc010tbs.1_Silent_p.T283T|CHFR_uc001uld.2_Silent_p.T242T|CHFR_uc010tbt.1_Silent_p.T191T NM_001161344 NP_001154816 Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains 283 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 skin(1) 1 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) CCTCGTGGACGGTTTGGGCAT 0.567000 CSNK1A1L 122011 broad.mit.edu 37 13 37679324 37679324 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr13:37679324C>T uc001uwm.1 - 1 478 c.70G>A c.(70-72)GGG>AGG p.G24R NM_145203 NP_660204 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 24 ATP (By similarity).|Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1) 1 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) GAGCCAGACCCGATCTTCCGC 0.552000 TEP1 7011 broad.mit.edu 37 14 20863741 20863741 + Missense_Mutation SNP G G T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr14:20863741G>T uc001vxe.2 - 12 1836 c.1796C>A c.(1795-1797)ACT>AAT p.T599N TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.T491N NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 599 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 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) TTCATTTCTAGTTAGTATCCG 0.463000 SIP1 8487 broad.mit.edu 37 14 39597518 39597518 + Missense_Mutation SNP A A C TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr14:39597518A>C uc001wuq.2 + 7 621 c.599A>C c.(598-600)AAT>ACT p.N200T SIP1_uc001wur.2_Missense_Mutation_p.N200T|SIP1_uc001wus.2_Missense_Mutation_p.N185T|SIP1_uc010amx.2_RNA NM_003616 NP_003607 O14893 GEMI2_HUMAN SMN-interacting protein 1 isoform alpha 200 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly Cajal body|cytosol|spliceosomal complex protein binding 0 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0121) TATCTGAGTAATTGGTTTGGA 0.279000 LRFN5 145581 broad.mit.edu 37 14 42360632 42360632 + Missense_Mutation SNP C C G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr14:42360632C>G uc001wvm.2 + 4 2763 c.1565C>G c.(1564-1566)TCT>TGT p.S522C LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 522 Extracellular (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TTCATGCAGTCTCAGTTTTTG 0.423000 HNSCC(30;0.082) SERPINA10 51156 broad.mit.edu 37 14 94750385 94750385 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr14:94750385G>A uc001yct.2 - 5 1718 c.1252C>T c.(1252-1254)CGG>TGG p.R418W SERPINA10_uc001ycu.3_Missense_Mutation_p.R418W NM_016186 NP_057270 Q9UK55 ZPI_HUMAN serine (or cysteine) proteinase inhibitor, clade 418 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) TGAAATGGCCGGTCCACTTTG 0.453000 EEF2K 29904 broad.mit.edu 37 16 22278169 22278169 + Missense_Mutation SNP A A T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr16:22278169A>T uc002dki.2 + 15 2221 c.1736A>T c.(1735-1737)CAT>CTT p.H579L EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 579 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) CAGTTGCCTCATCACATCCTA 0.637000 ADAMTS18 170692 broad.mit.edu 37 16 77325275 77325275 + Missense_Mutation SNP C C T rs150975249 byFrequency TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr16:77325275C>T uc002ffc.3 - 21 3709 c.3290G>A c.(3289-3291)CGT>CAT p.R1097H NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 1097 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 CTTAATATTACGGCATCTTCG 0.502000 SLC16A13 201232 broad.mit.edu 37 17 6941923 6941923 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr17:6941923C>T uc002geh.2 + 3 1104 c.796C>T c.(796-798)CGT>TGT p.R266C NM_201566 NP_963860 Q7RTY0 MOT13_HUMAN monocarboxylate transporter 13 266 Helical; (Potential). integral to membrane|plasma membrane symporter activity ovary(1)|skin(1) 2 CCTCGTGGGGCGTGTGGTCTC 0.602000 DSC1 1823 broad.mit.edu 37 18 28710576 28710576 + Silent SNP T T A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr18:28710576T>A uc002kwn.2 - 16 2848 c.2586A>T c.(2584-2586)GTA>GTT p.V862V DSC1_uc002kwm.2_3'UTR|uc002kwo.1_5'Flank NM_024421 NP_077739 Q08554 DSC1_HUMAN desmocollin 1 isoform Dsc1a preproprotein 862 Cytoplasmic (Potential). homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TGCAGCAACCTACTGAGCCGG 0.438000 EMR2 30817 broad.mit.edu 37 19 14887536 14887536 + Splice_Site SNP A A G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr19:14887536A>G uc002mzp.1 - 2 487 c.31_splice c.e2+1 p.A11_splice EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Splice_Site_p.A11_splice|EMR2_uc002mzq.1_Splice_Site_p.A11_splice|EMR2_uc002mzr.1_Splice_Site_p.A11_splice|EMR2_uc002mzs.1_Splice_Site_p.A11_splice|EMR2_uc002mzt.1_Splice_Site_p.A11_splice|EMR2_uc002mzu.1_Splice_Site_p.A11_splice|EMR2_uc010xny.1_Intron NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 CAAAGTACTTACCGAGAAAGA 0.652000 MAST3 23031 broad.mit.edu 37 19 18255381 18255381 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr19:18255381G>A uc002nhz.3 + 22 2603 c.2603G>A c.(2602-2604)GGC>GAC p.G868D NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 868 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 CGCCTTGGGGGCCCAAGAGAC 0.701000 ZNF568 374900 broad.mit.edu 37 19 37441189 37441189 + Silent SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr19:37441189G>A uc002ofc.2 + 7 1649 c.1134G>A c.(1132-1134)ACG>ACA p.T378T ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Silent_p.T302T|ZNF568_uc010efe.2_Silent_p.T302T|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 378 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CATCTGTTACGCTACATATGA 0.358000 QPCTL 54814 broad.mit.edu 37 19 46195970 46195970 + Silent SNP C C G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr19:46195970C>G uc010xxr.1 + 1 230 c.9C>G c.(7-9)TCC>TCG p.S3S SNRPD2_uc002pcv.2_5'Flank|SNRPD2_uc002pcw.2_5'Flank|QPCTL_uc010ekn.2_Silent_p.S3S NM_017659 NP_060129 Q9NXS2 QPCTL_HUMAN glutaminyl-peptide cyclotransferase-like isoform 3 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 skin(1) 1 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) CCATGCGTTCCGGGGGCCGCG 0.662000 NRXN1 9378 broad.mit.edu 37 2 51255000 51255000 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr2:51255000C>A uc010fbq.2 - 2 1889 c.412G>T c.(412-414)GTG>TTG p.V138L NRXN1_uc002rxe.3_Missense_Mutation_p.V138L|NRXN1_uc002rxd.1_Missense_Mutation_p.V138L NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TTGACCTCCACCCACTTGGCC 0.682000 IL1RL2 8808 broad.mit.edu 37 2 102836364 102836364 + Missense_Mutation SNP A A T rs139096768 byFrequency TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr2:102836364A>T uc002tbs.2 + 8 1004 c.878A>T c.(877-879)CAT>CTT p.H293L IL1RL2_uc002tbt.2_Missense_Mutation_p.H175L NM_003854 NP_003845 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 precursor 293 Extracellular (Potential).|Ig-like C2-type 3. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity ovary(2) 2 TTTCGGGAACATAATTTGTAC 0.358000 GLI2 2736 broad.mit.edu 37 2 121736090 121736090 + Silent SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr2:121736090C>A uc010flp.2 + 9 1479 c.1449C>A c.(1447-1449)CCC>CCA p.P483P GLI2_uc002tmq.1_Silent_p.P155P|GLI2_uc002tmr.1_Silent_p.P138P|GLI2_uc002tmt.3_Silent_p.P155P|GLI2_uc002tmu.3_Silent_p.P138P|GLI2_uc002tmw.1_Silent_p.P466P NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 483 C2H2-type 2; degenerate. axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) AGCAGAAGCCCTTCAAGGCGC 0.647000 PDE1A 5136 broad.mit.edu 37 2 183129090 183129090 + Missense_Mutation SNP G G T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr2:183129090G>T uc002uos.2 - 3 237 c.153C>A c.(151-153)GAC>GAA p.D51E PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.D51E|PDE1A_uc010zfq.1_Missense_Mutation_p.D51E|PDE1A_uc002uor.2_Missense_Mutation_p.D35E|PDE1A_uc002uov.1_RNA NM_001003683 NP_001003683 P54750 PDE1A_HUMAN phosphodiesterase 1A isoform 2 51 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.061) TCTTCTTTAAGTCGACGACGT 0.358000 CPS1 1373 broad.mit.edu 37 2 211473150 211473150 + Missense_Mutation SNP T T C TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr2:211473150T>C uc002vee.3 + 19 2390 c.2258T>C c.(2257-2259)GTC>GCC p.V753A CPS1_uc010fur.2_Missense_Mutation_p.V759A|CPS1_uc010fus.2_Missense_Mutation_p.V302A NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 753 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 ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ATTAAGAACGTCGTATCCGGG 0.423000 SH3BP4 23677 broad.mit.edu 37 2 235950502 235950502 + Silent SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr2:235950502G>A uc002vvp.2 + 4 1482 c.1089G>A c.(1087-1089)CCG>CCA p.P363P SH3BP4_uc010fym.2_Silent_p.P363P|SH3BP4_uc002vvq.2_Silent_p.P363P NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 363 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding skin(3)|ovary(1) 4 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) TGGACCCCCCGCTGGAGCTCA 0.597000 RASSF2 9770 broad.mit.edu 37 20 4771185 4771185 + Missense_Mutation SNP C C T rs145104204 byFrequency TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr20:4771185C>T uc002wld.2 - 6 503 c.449G>A c.(448-450)CGT>CAT p.R150H RASSF2_uc002wlc.2_RNA|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.R150H NM_170774 NP_739580 P50749 RASF2_HUMAN Ras association domain family 2 150 cell cycle|signal transduction nucleus protein binding ovary(3)|lung(2)|large_intestine(1) 6 GCCACGGCGACGCACCCCAAC 0.587000 FOXS1 2307 broad.mit.edu 37 20 30432356 30432356 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr20:30432356C>A uc002wwt.1 - 1 1065 c.990G>T c.(988-990)GAG>GAT p.E330D NM_004118 NP_004109 O43638 FOXS1_HUMAN forkhead box S1 330 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(1) 1 GCTGCCTTTACTCAAAGAAGA 0.627000 ZHX3 23051 broad.mit.edu 37 20 39832810 39832810 + Missense_Mutation SNP G G T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr20:39832810G>T uc002xjs.1 - 3 1125 c.747C>A c.(745-747)AAC>AAA p.N249K ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.N249K|ZHX3_uc002xjt.1_Missense_Mutation_p.N249K|ZHX3_uc002xju.1_Missense_Mutation_p.N249K|ZHX3_uc002xjv.1_Missense_Mutation_p.N249K|ZHX3_uc002xjw.1_Missense_Mutation_p.N249K|ZHX3_uc010ggg.1_Missense_Mutation_p.N249K NM_015035 NP_055850 Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 249 Required for homodimerization and interaction with NFYA. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Myeloproliferative disorder(115;0.00425) CGGCATGGGGGTTTTTTGCAG 0.587000 TOX2 84969 broad.mit.edu 37 20 42695466 42695466 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr20:42695466C>A uc002xlf.3 + 7 1416 c.1399C>A c.(1399-1401)CCC>ACC p.P467T TOX2_uc010ggo.2_Missense_Mutation_p.P485T|TOX2_uc002xle.3_Missense_Mutation_p.P443T|TOX2_uc010ggp.2_Missense_Mutation_p.P443T|TOX2_uc002xlg.2_Missense_Mutation_p.P284T|TOX2_uc010zwk.1_Missense_Mutation_p.P363T NM_001098798 NP_001092268 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 467 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CAGCAGCTACCCCAGTGGGGA 0.642000 ZNF831 128611 broad.mit.edu 37 20 57769755 57769755 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr20:57769755C>A uc002yan.2 + 1 3681 c.3681C>A c.(3679-3681)AGC>AGA p.S1227R NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1227 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CTCCTGGGAGCAATGGAGGAT 0.627000 LAMA5 3911 broad.mit.edu 37 20 60903046 60903046 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr20:60903046C>A uc002ycq.2 - 36 4740 c.4673G>T c.(4672-4674)GGG>GTG p.G1558V NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 1558 Laminin EGF-like 14. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACAGCGGCGCCCAGTCACGTT 0.692000 UCKL1 54963 broad.mit.edu 37 20 62571773 62571773 + Silent SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr20:62571773C>A uc010gkn.2 - 13 1411 c.1368G>T c.(1366-1368)GTG>GTT p.V456V UCKL1_uc002yhj.2_Silent_p.V99V|UCKL1_uc011abm.1_Silent_p.V441V|UCKL1_uc011abn.1_RNA NM_017859 NP_060329 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 456 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CGCCCGTGGACACGGTGCAGT 0.662000 TCEA2 6919 broad.mit.edu 37 20 62700799 62700799 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr20:62700799C>T uc011abs.1 + 5 1071 c.415C>T c.(415-417)CGC>TGC p.R139C TCEA2_uc011abr.1_Missense_Mutation_p.R112C|TCEA2_uc010gkq.2_Missense_Mutation_p.R112C|TCEA2_uc010gks.2_Missense_Mutation_p.R139C|TCEA2_uc010gkt.2_Missense_Mutation_p.R112C|TCEA2_uc010gku.1_Silent_p.C82C NM_003195 NP_003186 Q15560 TCEA2_HUMAN transcription elongation factor A protein 2 139 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding 0 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) TGATGCCGTGCGCAACAAGTG 0.682000 DSCR6 53820 broad.mit.edu 37 21 38390196 38390196 + Missense_Mutation SNP C C G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr21:38390196C>G uc002yvv.2 + 4 472 c.262C>G c.(262-264)CGT>GGT p.R88G DSCR6_uc011aec.1_5'UTR|DSCR6_uc010gnd.2_5'UTR NM_018962 NP_061835 P57055 DSCR6_HUMAN Down syndrome critical region protein 6 88 Ripply homology domain. nucleus breast(1) 1 Myeloproliferative disorder(46;0.0632) CATGTCAAAGCGTCAAGAATA 0.443000 BRWD1 54014 broad.mit.edu 37 21 40578076 40578076 + Missense_Mutation SNP C C T rs147847700 byFrequency TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr21:40578076C>T uc002yxk.1 - 37 4461 c.4322G>A c.(4321-4323)CGG>CAG p.R1441Q BRWD1_uc010goc.1_Missense_Mutation_p.R84Q|BRWD1_uc002yxl.2_Missense_Mutation_p.R1441Q|BRWD1_uc010god.1_Missense_Mutation_p.R359Q NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1441 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ACAATTTTGCCGTTGCTTGAA 0.294000 CLTCL1 8218 broad.mit.edu 37 22 19241744 19241744 + Missense_Mutation SNP T T C TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr22:19241744T>C uc002zpb.2 - 3 332 c.257A>G c.(256-258)AAG>AGG p.K86R CLTCL1_uc011agv.1_Missense_Mutation_p.K86R|CLTCL1_uc011agw.1_Missense_Mutation_p.K86R NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 86 Globular terminal domain. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) CTGAAGTGTCTTCCCAGCTAG 0.299000 T ? ALCL TIMP3 7078 broad.mit.edu 37 22 33254081 33254081 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr22:33254081C>T uc003anb.2 + 4 1580 c.394C>T c.(394-396)CGC>TGC p.R132C SYN3_uc003amx.2_Intron|SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Intron NM_000362 NP_000353 P35625 TIMP3_HUMAN tissue inhibitor of metalloproteinase 3 132 NTR.|Mediates interaction with EFEMP1. negative regulation of membrane protein ectodomain proteolysis|visual perception metal ion binding|metalloendopeptidase inhibitor activity|protein binding lung(1) 1 CCTCTCCCAGCGCAAGGGGCT 0.562000 SBF1 6305 broad.mit.edu 37 22 50905993 50905993 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr22:50905993C>A uc003blh.2 - 4 601 c.406G>T c.(406-408)GTG>TTG p.V136L SBF1_uc011arx.1_5'Flank|SBF1_uc003bli.2_Missense_Mutation_p.V137L NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 136 DENN. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 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;0.206)|LUAD - Lung adenocarcinoma(64;0.247) AGTCGCGACACCAGTACCAGC 0.672000 SCN11A 11280 broad.mit.edu 37 3 38888715 38888715 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr3:38888715C>T uc011ays.1 - 26 5045 c.4846G>A c.(4846-4848)GAC>AAC p.D1616N NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1616 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CCCAAAGGGTCCTCACTTTCT 0.368000 LPP 4026 broad.mit.edu 37 3 188242498 188242499 + Missense_Mutation DNP GA GA TT TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr3:188242498_188242499GA>TT uc003frs.1 + 5 598_599 c.352_353GA>TT c.(352-354)GAC>TTC p.D118F LPP_uc011bsg.1_Missense_Mutation_p.D118F|LPP_uc011bsi.1_Missense_Mutation_p.D118F|LPP_uc003frt.2_Missense_Mutation_p.D118F NM_005578 NP_005569 Q93052 LPP_HUMAN LIM domain containing preferred translocation 118 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1) 165 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) CTCCAGCCTGGACGCTGAGATT 0.520000 T HMGA2|MLL|C12orf9 lipoma|leukemia TECRL 253017 broad.mit.edu 37 4 65155449 65155449 + Missense_Mutation SNP A A C TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr4:65155449A>C uc003hcv.2 - 9 920 c.811T>G c.(811-813)TTG>GTG p.L271V NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 271 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 GGATGAGACAACATTACATTG 0.274000 TRIML2 205860 broad.mit.edu 37 4 189012609 189012609 + Missense_Mutation SNP C C A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr4:189012609C>A uc003izl.2 - 7 1118 c.1082G>T c.(1081-1083)TGT>TTT p.C361F TRIML2_uc003izj.1_Missense_Mutation_p.C189F|TRIML2_uc003izk.1_Missense_Mutation_p.C169F|TRIML2_uc011cle.1_Missense_Mutation_p.C436F NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 361 B30.2/SPRY. ligase activity central_nervous_system(2) 2 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) ATTTGGGATACAGAGGGAAAA 0.463000 OXCT1 5019 broad.mit.edu 37 5 41739516 41739516 + Missense_Mutation SNP C C G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr5:41739516C>G uc003jmn.2 - 16 1828 c.1497G>C c.(1495-1497)CAG>CAC p.Q499H OXCT1_uc011cpo.1_Missense_Mutation_p.Q102H|OXCT1_uc011cpp.1_Missense_Mutation_p.Q102H NM_000436 NP_000427 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 precursor 499 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity ovary(2)|large_intestine(1) 3 Succinic acid(DB00139) CAGTACTCTTCTGTACGTCAT 0.433000 MSH3 4437 broad.mit.edu 37 5 79968173 79968173 + Silent SNP A A T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr5:79968173A>T uc003kgz.2 + 5 1156 c.903A>T c.(901-903)GGA>GGT p.G301G NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 301 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TGGCAAAAGGATATAAGGTCA 0.423000 MMR ELOVL2 54898 broad.mit.edu 37 6 10990028 10990028 + Missense_Mutation SNP C C T rs6919726 byFrequency TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr6:10990028C>T uc003mzp.3 - 7 834 c.673G>A c.(673-675)GTG>ATG p.V225M NM_017770 NP_060240 Q9NXB9 ELOV2_HUMAN elongation of very long chain fatty acids-like 225 Helical; (Potential). fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding 0 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) CACGGTTTCACGACGGCGCTC 0.532000 ETV7 51513 broad.mit.edu 37 6 36343663 36343663 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr6:36343663G>A uc003omb.2 - 3 441 c.292C>T c.(292-294)CGT>TGT p.R98C ETV7_uc003olz.1_Missense_Mutation_p.R98C|ETV7_uc003oma.1_Intron|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Intron|ETV7_uc010jwj.2_Missense_Mutation_p.P25L|ETV7_uc010jwh.2_Missense_Mutation_p.R17C|ETV7_uc010jwi.2_Missense_Mutation_p.R98C|ETV7_uc011dtl.1_Intron NM_016135 NP_057219 Q9Y603 ETV7_HUMAN ets variant 7 98 PNT. organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 CTGGGCGCACGGTGCCGGAAG 0.662000 FAM46A 55603 broad.mit.edu 37 6 82459692 82459692 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr6:82459692C>T uc003pjg.2 - 3 1367 c.1049G>A c.(1048-1050)CGC>CAC p.R350H FAM46A_uc003pjf.2_Missense_Mutation_p.R369H NM_017633 NP_060103 Q96IP4 FA46A_HUMAN hypothetical protein LOC55603 350 0 all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104) BRCA - Breast invasive adenocarcinoma(397;0.0428) CTCATACTTGCGGTCTTCCAA 0.438000 FOXO3 2309 broad.mit.edu 37 6 108985299 108985299 + Silent SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr6:108985299G>A uc003psk.2 + 3 1579 c.1263G>A c.(1261-1263)TCG>TCA p.S421S FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Silent_p.S421S|FOXO3_uc011ean.1_Silent_p.S201S|FOXO3_uc010kdj.1_Silent_p.S201S NM_201559 NP_963853 O43524 FOXO3_HUMAN forkhead box O3A 421 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding central_nervous_system(4)|lung(2) 6 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) CCAAGGGCTCGGGCCTGGGCT 0.597000 TAS2R4 50832 broad.mit.edu 37 7 141478766 141478766 + Missense_Mutation SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr7:141478766G>A uc003vwq.1 + 1 478 c.478G>A c.(478-480)GTG>ATG p.V160M NM_016944 NP_058640 Q9NYW5 TA2R4_HUMAN taste receptor T2R4 160 Extracellular (Potential). sensory perception of taste cilium membrane taste receptor activity 0 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) TCCTGAACTTGTGACTACGAG 0.453000 RP1 6101 broad.mit.edu 37 8 55533785 55533785 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr8:55533785C>T uc003xsd.1 + 2 407 c.259C>T c.(259-261)CGG>TGG p.R87W RP1_uc011ldy.1_Missense_Mutation_p.R87W NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 87 Doublecortin 1. 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 skin(7)|ovary(4)|pancreas(1) 12 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) CAGCACCCCTCGGGGCAGGCA 0.592000 ADCY8 114 broad.mit.edu 37 8 131795957 131795957 + Missense_Mutation SNP T T A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr8:131795957T>A uc003ytd.3 - 17 3504 c.3248A>T c.(3247-3249)AAC>ATC p.N1083I ADCY8_uc010mds.2_Missense_Mutation_p.N952I NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1083 Cytoplasmic (Potential). 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 skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TTCAAAATTGTTGAATGAATG 0.512000 HNSCC(32;0.087) HAUS6 54801 broad.mit.edu 37 9 19063161 19063161 + Missense_Mutation SNP T T G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr9:19063161T>G uc003znk.2 - 14 1727 c.1474A>C c.(1474-1476)AAT>CAT p.N492H HAUS6_uc011lmz.1_Missense_Mutation_p.N212H|HAUS6_uc003znl.1_Missense_Mutation_p.N356H|HAUS6_uc003znm.1_Missense_Mutation_p.N247H NM_017645 NP_060115 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 492 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle ovary(2) 2 ATTGCTTCATTTTTTTCTTTG 0.358000 FBXW2 26190 broad.mit.edu 37 9 123527050 123527050 + Silent SNP G G A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr9:123527050G>A uc004bkl.1 - 8 1313 c.1152C>T c.(1150-1152)AAC>AAT p.N384N FBXW2_uc011lyc.1_Silent_p.N255N|FBXW2_uc004bkn.2_Silent_p.N416N|FBXW2_uc004bkm.1_Silent_p.N384N|FBXW2_uc010mvj.1_Silent_p.N319N NM_012164 NP_036296 Q9UKT8 FBXW2_HUMAN F-box and WD repeat domain containing 2 384 proteolysis protein binding|ubiquitin-protein ligase activity urinary_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 ACAGGTAGCGGTTGTCAAACA 0.507000 TOR1A 1861 broad.mit.edu 37 9 132580876 132580876 + Missense_Mutation SNP C C T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr9:132580876C>T uc004byl.2 - 4 748 c.671G>A c.(670-672)AGT>AAT p.S224N TOR1A_uc004bym.2_RNA NM_000113 NP_000104 O14656 TOR1A_HUMAN torsin A precursor 224 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding central_nervous_system(1) 1 Ovarian(14;0.00556) CTGCTTTCCACTCCTCCAGAA 0.493000 KCNT1 57582 broad.mit.edu 37 9 138683695 138683695 + Silent SNP G G A rs144068763 TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr9:138683695G>A uc011mdq.1 + 30 3629 c.3555G>A c.(3553-3555)CCG>CCA p.P1185P KCNT1_uc011mdr.1_Silent_p.P1033P|KCNT1_uc010nbf.2_Silent_p.P1161P NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 1185 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TCAACCCTCCGCCCGACACGA 0.642000 CYLC1 1538 broad.mit.edu 37 X 83128442 83128442 + Missense_Mutation SNP T T G TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chrX:83128442T>G uc004eei.1 + 4 747 c.726T>G c.(724-726)AGT>AGG p.S242R CYLC1_uc004eeh.1_Missense_Mutation_p.S241R NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 242 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 CAGAAAATAGTTTAAATGTTG 0.323000 MAGEC1 9947 broad.mit.edu 37 X 140994530 140994530 + Missense_Mutation SNP T T G rs57605162 TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chrX:140994530T>G uc004fbt.2 + 4 1626 c.1340T>G c.(1339-1341)GTG>GGG p.V447G MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 447 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CAGATTCCTGTGAGCTCCTCT 0.453000 HNSCC(15;0.026) TM9SF3 56889 broad.mit.edu 37 10 98292810 98292811 + Splice_Site INS - - T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr10:98292809_98292810A>AT uc001kmm.4 - 10 1542 c.1325_splice c.e10+1 p.W442_splice NM_020123 NP_064508 Q9HD45 TM9S3_HUMAN Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA. 442 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TCTCTTTACCATTTTTTCTCCG 0.376 PHTF1 10745 broad.mit.edu 37 1 114267498 114267499 + Frame_Shift_Del DEL AC AC - TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr1:114267498_114267499delAC uc009wgp.1 - 6 957_958 c.505_506delGT c.(505-507)GTAfs p.V169fs PHTF1_uc001edn.2_Frame_Shift_Del_p.V169fs|PHTF1_uc010own.1_Frame_Shift_Del_p.V169fs NM_006608 NP_006599 Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 169 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 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) ATCACCATTTACAGTTTTTCGT 0.332 HSPA6 3310 broad.mit.edu 37 1 161494681 161494682 + Frame_Shift_Ins INS - - A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr1:161494681_161494682insA uc001gap.2 + 2 893_894 c.233_234insA c.(232-234)CGCfs p.R78fs HSPA6_uc001gaq.2_Frame_Shift_Ins_p.R78fs NM_002155 NP_002146 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 78 response to unfolded protein ATP binding skin(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CTGATCGGGCGCAAGTTCGCGG 0.688 TM9SF3 56889 broad.mit.edu 37 10 98292809 98292810 + Frame_Shift_Ins INS - - T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr10:98292809_98292810insT uc001kmm.3 - 10 1540_1541 c.1323_1324insA c.(1321-1326)AAATGGfs p.K441fs TM9SF3_uc010qot.1_Frame_Shift_Ins_p.K441fs NM_020123 NP_064508 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 precursor 441_442 integral to membrane binding 0 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TCTCTTTACCATTTTTTCTCCG 0.376 WBP4 11193 broad.mit.edu 37 13 41639174 41639177 + Frame_Shift_Del DEL GAAA GAAA - TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr13:41639174_41639177delGAAA uc001uxt.2 + 3 211_214 c.98_101delGAAA c.(97-102)GGAAAGfs p.G33fs WBP4_uc010tfd.1_Intron NM_007187 NP_009118 O75554 WBP4_HUMAN WW domain-containing binding protein 4 33_34 Matrin-type. nuclear mRNA cis splicing, via spliceosome nuclear speck|spliceosomal complex nucleic acid binding|proline-rich region binding|zinc ion binding breast(2)|kidney(1) 3 Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07) CATGAAAGAGGAAAGAATCATAAG 0.270 CDKN2A 1029 broad.mit.edu 37 9 21971024 21971024 + Frame_Shift_Del DEL G G - TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr9:21971024delG uc003zpk.2 - 2 546 c.334delC c.(334-336)CGTfs p.R112fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Del_p.P167fs NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 112 ANK 4. R -> RR (in CMM2). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.R112G(4)|p.H83fs*2(2)|p.R112fs(1)|p.R112S(1)|p.R112P(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.R112fs*32(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 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) ACGGGCAGACGGCCCCAGGCA 0.736 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) KIAA0907 22889 broad.mit.edu 37 1 155884048 155884049 + Frame_Shift_Del DEL TC TC - TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr1:155884047_155884048ATC>A uc001fmi.1 - 13 1733_1734 c.1709_1710GAT>T c.(1708-1710)gatfs p.D570fs RIT1_uc001fmh.1_5'Flank|RIT1_uc010pgr.1_5'Flank|KIAA0907_uc001fmj.1_3'UTR NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN Homo sapiens KIAA0907 (KIAA0907), mRNA. 570 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) CATCAGATGAATCTGCAGCATA 0.446 HSPA6 3310 broad.mit.edu 37 1 161494682 161494683 + Frame_Shift_Ins INS - - A TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr1:161494681_161494682G>GA uc001gaq.3 + 0 646_647 c.233_234G>GA c.(232-234)cgcfs p.R78fs TRNA_Gly_uc021pdc.1_5'Flank NM_002155 NP_002146 P17066 HSP76_HUMAN Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA. 78 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CTGATCGGGCGCAAGTTCGCGG 0.688 ADCY2 108 broad.mit.edu 37 5 7727327 7727328 + Frame_Shift_Del DEL TC TC - rs113337472 TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr5:7727326_7727327GTC>G uc003jdz.1 + 13 1890_1891 c.1823_1824GTC>G c.(1822-1824)tgtfs p.C608fs ADCY2_uc011cmo.1_Frame_Shift_Del_p.C428fs NM_020546 NP_065433 Q08462 ADCY2_HUMAN Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA. 608 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|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 ACTTGTGCCTGTCTCATATTCT 0.510 CDKN2A 1029 broad.mit.edu 37 9 21974715 21974732 + In_Frame_Del DEL GCAGCGCCCCCGCCTCCA GCAGCGCCCCCGCCTCCA - TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr9:21974714_21974731GGCAGCGCCCCCGCCTCCA>G uc003zpk.3 - 0 402_419 c.96_113TGGAGGCGGGGGCGCTGCC>C c.(94-114)ctggaggcgggggcgctgccc>ctCc p.EAGALP33del MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_In_Frame_Del_p.EAGALP33del|CDKN2A_uc010miu.3_In_Frame_Del_p.EAGALP33del|CDKN2A_uc003zpl.3_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA. 33 E -> D (in a biliary tract tumor). 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.?(23)|p.L32_L37del(11)|p.G35E(6)|p.A36T(4)|p.L37L(4)|p.A34V(4)|p.V28_E33del(4)|p.E33*(4)|p.R29_A34del(4)|p.G35R(4)|p.E33D(2)|p.L32R(2)|p.A34A(2)|p.E33fs*8(2)|p.L37fs*6(2)|p.A36fs*8(2)|p.P38L(2)|p.G35fs*13(2)|p.V28_V51del(2)|p.P38fs*7(2)|p.G35V(2)|p.R29fs*9(1)|p.0(1)|p.A21_L32del(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) CGGTGCGTTGGGCAGCGCCCCCGCCTCCAGCAGCGCCC 0.711 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) TM9SF3 56889 broad.mit.edu 37 10 98292810 98292811 + Splice_Site INS - - T TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr10:98292809_98292810A>AT uc001kmm.4 - 10 1542 c.1325_splice c.e10+1 p.W442_splice NM_020123 NP_064508 Q9HD45 TM9S3_HUMAN Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA. 442 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TCTCTTTACCATTTTTTCTCCG 0.376 C20orf112 140688 broad.mit.edu 37 20 31043938 31043939 + Frame_Shift_Del DEL CC CC - TCGA-HF-7136-01A-11D-2053-08 TCGA-HF-7136-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 622eaa04-b8f9-471b-98b0-7befd119f14c 8417a72f-a578-450f-8e74-17faef5b8f67 g.chr20:31043937_31043938ACC>A uc002wxu.4 - 2 527_528 c.370_371GGT>T c.(370-372)gtgfs p.V124fs NM_080616 NP_542183 Q96MY1 CT112_HUMAN Homo sapiens chromosome 20 open reading frame 112 (C20orf112), mRNA. 124 endometrium(3)|kidney(2)|large_intestine(5)|lung(5) 15 GGTGGTCTTCACCCCGTATTTG 0.629