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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample PANK4 55229 broad.mit.edu 37 1 2440291 2440291 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr1:2440291C>T uc001ajm.1 - 19 2326 c.2317G>A c.(2317-2319)GAG>AAG p.E773K PANK4_uc010nza.1_Missense_Mutation_p.E734K NM_018216 NP_060686 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 773 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1) 3 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GCGCCTCACTCGGCTGGGACC 0.567 NaN 0 0 0 0.00632 0 23 18 MYOM3 127294 broad.mit.edu 37 1 24419480 24419480 + Silent SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr1:24419480C>T uc001bin.3 - 10 1210 c.1047G>A c.(1045-1047)TCG>TCA p.S349S MYOM3_uc001bim.3_Silent_p.S6S|MYOM3_uc001bio.2_Silent_p.S349S|MYOM3_uc001bip.1_Silent_p.S6S NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 349 Ig-like C2-type 2. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GTCCGAAGGGCGAGGGCACCC 0.458 NaN 0 0 0 0.01892 0 25 22 GPN2 54707 broad.mit.edu 37 1 27210712 27210712 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr1:27210712C>G uc001bnd.1 - 4 1081 c.799G>C c.(799-801)GAG>CAG p.E267Q NM_018066 NP_060536 Q9H9Y4 GPN2_HUMAN ATP binding domain 1 family, member B 267 GTP binding 0 CTTCGCTGCTCTTGGGCTCTG 0.537 NaN 0 0 0 0.00632 0 29 34 EBNA1BP2 10969 broad.mit.edu 37 1 43630462 43630462 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr1:43630462C>T uc001cin.2 - 8 919 c.722G>A c.(721-723)CGA>CAA p.R241Q EBNA1BP2_uc001cio.2_Missense_Mutation_p.R296Q|EBNA1BP2_uc001cim.2_Missense_Mutation_p.R136Q|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.R296Q NM_006824 NP_006815 Q99848 EBP2_HUMAN EBNA1 binding protein 2 isoform 2 241 ribosome biogenesis membrane fraction|nucleolus protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTTATACCGTCGTTTAGCACT 0.468 NaN 0 0 0 0.00499 0 17 100 NBPF9 400818 broad.mit.edu 37 1 144220807 144220807 + Missense_Mutation SNP A A C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr1:144220807A>C uc010oxr.1 + 19 2184 c.2180A>C c.(2179-2181)GAT>GCT p.D727A NBPF9_uc010oxn.1_Missense_Mutation_p.D598A|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxt.1_Missense_Mutation_p.D515A|NBPF9_uc001ekg.1_Missense_Mutation_p.D27A|NBPF9_uc001ekk.1_Missense_Mutation_p.D271A|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.D27A|uc010oxz.1_Missense_Mutation_p.D515A NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 700 NBPF 5. cytoplasm 0 GAGCTGCTGGATGAGAAAGAG 0.483 NaN 0 0 0 0.021523 0 21 120 C1orf54 79630 broad.mit.edu 37 1 150248969 150248969 + Missense_Mutation SNP A A G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr1:150248969A>G uc001eud.2 + 4 267 c.229A>G c.(229-231)ACC>GCC p.T77A C1orf54_uc001euc.2_Missense_Mutation_p.T77A|C1orf54_uc001eue.2_Missense_Mutation_p.T77A|C1orf54_uc001euf.2_Missense_Mutation_p.T77A|C1orf54_uc001eug.2_Missense_Mutation_p.T77A NM_024579 NP_078855 Q8WWF1 CA054_HUMAN hypothetical protein LOC79630 precursor 77 extracellular region 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AATAGAGACTACCATTAGTCT 0.453 NaN 0 0 0 0.007835 0 39 57 RORC 6097 broad.mit.edu 37 1 151785462 151785462 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr1:151785462C>T uc001ezh.2 - 9 1354 c.1246G>A c.(1246-1248)GAG>AAG p.E416K RORC_uc001ezg.2_Missense_Mutation_p.E395K|RORC_uc010pdo.1_Missense_Mutation_p.E470K|RORC_uc010pdp.1_Missense_Mutation_p.E404K NM_005060 NP_005051 P51449 RORG_HUMAN RAR-related orphan receptor C isoform a 416 Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AGGGCAATCTCATCCTCGGAA 0.517 NaN 0 0 0 0.00632 0 28 50 RUSC1 23623 broad.mit.edu 37 1 155292628 155292628 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr1:155292628C>T uc001fkj.2 + 2 1293 c.1064C>T c.(1063-1065)TCG>TTG p.S355L RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.S355L|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank|RUSC1_uc001fks.2_5'Flank NM_001105203 NP_001098673 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 isoform a 355 cytoplasm|nucleolus SH3/SH2 adaptor activity ovary(2) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) CTCCCCCCCTCGGGGTCGCCG 0.701 NaN 0 0 0 0.01441 0 52 47 TMCC2 9911 broad.mit.edu 37 1 205240950 205240950 + Nonsense_Mutation SNP G G T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr1:205240950G>T uc001hbz.1 + 6 2272 c.1828G>T c.(1828-1830)GAG>TAG p.E610* TMCC2_uc010prf.1_Nonsense_Mutation_p.E532*|TMCC2_uc001hca.2_Nonsense_Mutation_p.E385*|TMCC2_uc001hcb.1_Nonsense_Mutation_p.E370*|TMCC2_uc001hcc.1_Nonsense_Mutation_p.E231*|TMCC2_uc001hcd.2_3'UTR NM_014858 NP_055673 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 610 Potential. integral to membrane protein binding pancreas(1) 1 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) GGAGGCCGTGGAGTCCTGCCT 0.647 NaN 1 0 7.81431e-29 0.01441 8.2185e-29 80 94 LYST 1130 broad.mit.edu 37 1 235966211 235966211 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr1:235966211C>T uc001hxj.2 - 8 3884 c.3709G>A c.(3709-3711)GAT>AAT p.D1237N LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.D1237N NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1237 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ATTTTACCATCATCCTGGGTT 0.313 NaN Chediak-Higashi_syndrome 0 0 0 0.014758 0 4 35 AHCTF1 25909 broad.mit.edu 37 1 247057966 247057966 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr1:247057966C>G uc001ibu.1 - 13 1806 c.1799G>C c.(1798-1800)AGA>ACA p.R600T AHCTF1_uc001ibv.1_Missense_Mutation_p.R609T|AHCTF1_uc009xgs.1_5'UTR NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 600 Necessary for cytoplasmic 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) CTTACATAGTCTGTCAAATTC 0.303 NaN 0 0 0 0.021523 0 21 22 KIAA1217 56243 broad.mit.edu 37 10 24810779 24810779 + Silent SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr10:24810779C>T uc001iru.3 + 12 2780 c.2377C>T c.(2377-2379)CTG>TTG p.L793L KIAA1217_uc001irs.2_Silent_p.L713L|KIAA1217_uc001irt.3_Silent_p.L758L|KIAA1217_uc010qcy.1_Silent_p.L758L|KIAA1217_uc010qcz.1_Silent_p.L758L|KIAA1217_uc001irv.1_Silent_p.L608L|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.2_Silent_p.L476L|KIAA1217_uc001irz.2_Silent_p.L476L|KIAA1217_uc001irx.2_Silent_p.L476L|KIAA1217_uc001iry.2_Silent_p.L476L NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 793 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 CGTGCGGTTTCTGAAGGAGGA 0.577 NaN 0 0 0 0.013114 0 39 62 PTCHD3 374308 broad.mit.edu 37 10 27702774 27702774 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr10:27702774C>T uc001itu.2 - 1 524 c.406G>A c.(406-408)GCG>ACG p.A136T NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 136 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 CAGGGGTGCGCGCCCACCTGC 0.667 NaN 0 0 0 0.01441 0 56 56 PDZD8 118987 broad.mit.edu 37 10 119043793 119043793 + Missense_Mutation SNP C C A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr10:119043793C>A uc001lde.1 - 5 2650 c.2451G>T c.(2449-2451)TTG>TTT p.L817F NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 817 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) CTTCTTCAACCAAATGGGGTT 0.368 NaN 1 0 0.00909568 0.009096 0.00919618 4 63 DMBT1 1755 broad.mit.edu 37 10 124339372 124339372 + Missense_Mutation SNP A A T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr10:124339372A>T uc001lgk.1 + 10 1064 c.958A>T c.(958-960)ACC>TCC p.T320S DMBT1_uc001lgl.1_Missense_Mutation_p.T320S|DMBT1_uc001lgm.1_Missense_Mutation_p.T320S|DMBT1_uc009xzz.1_Missense_Mutation_p.T320S|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.T172S NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 320 SRCR 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGGCTGGCTCACCCACAACTG 0.572 NaN 0 0 0 0.027894 0 34 89 CHRNA10 57053 broad.mit.edu 37 11 3688596 3688596 + Missense_Mutation SNP G G A rs140976405 TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr11:3688596G>A uc001lyf.2 - 4 833 c.761C>T c.(760-762)GCG>GTG p.A254V CHRNA10_uc010qxt.1_Missense_Mutation_p.A48V|CHRNA10_uc010qxu.1_Missense_Mutation_p.A48V NM_020402 NP_065135 Q9GZZ6 ACH10_HUMAN cholinergic receptor, nicotinic, alpha 10 254 Helical; (Potential). elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding ovary(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) GGCGAGCGGCGCAAGCAGCGA 0.697 NaN 0 0 0 0.010818 0 30 30 MICAL2 9645 broad.mit.edu 37 11 12234924 12234924 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr11:12234924C>G uc001mjz.2 + 7 1102 c.814C>G c.(814-816)CAG>GAG p.Q272E MICAL2_uc010rch.1_Missense_Mutation_p.Q272E|MICAL2_uc001mka.2_Missense_Mutation_p.Q272E|MICAL2_uc010rci.1_Missense_Mutation_p.Q272E|MICAL2_uc001mkb.2_Missense_Mutation_p.Q272E|MICAL2_uc001mkc.2_Missense_Mutation_p.Q272E|MICAL2_uc001mkd.2_Missense_Mutation_p.Q101E|MICAL2_uc001mke.2_5'Flank NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 272 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) CATCTTCAATCAGAAATTTTT 0.463 NaN 0 0 0 0.01441 0 76 125 INTS5 80789 broad.mit.edu 37 11 62415960 62415961 + Missense_Mutation DNP TC TC AT TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr11:62415960_62415961TC>AT uc001nud.2 - 2 1644_1645 c.1591_1592GA>AT c.(1591-1593)GAG>ATG p.E531M GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 531 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 CAAACTCAACTCTTCAGGGCTT 0.624 NaN 0 0 0 0.004672 0 112 140 AMOTL1 154810 broad.mit.edu 37 11 94599320 94599320 + Nonsense_Mutation SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr11:94599320G>A uc001pfb.2 + 11 2645 c.2475G>A c.(2473-2475)TGG>TGA p.W825* AMOTL1_uc001pfc.2_Nonsense_Mutation_p.W775* NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 825 cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) AGAAGACCTGGAAGGGGAGCA 0.458 NaN 0 0 0 0.008871 0 20 25 MMP3 4314 broad.mit.edu 37 11 102709926 102709926 + Silent SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr11:102709926C>T uc001phj.1 - 7 1049 c.984G>A c.(982-984)TTG>TTA p.L328L NM_002422 NP_002413 P08254 MMP3_HUMAN matrix metalloproteinase 3 preproprotein 328 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) ATGAAGAGATCAAATGCAATT 0.358 NaN 0 0 0 0.01441 0 50 70 ATM 472 broad.mit.edu 37 11 108117799 108117799 + Missense_Mutation SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr11:108117799G>A uc001pkb.1 + 8 1395 c.1010G>A c.(1009-1011)CGT>CAT p.R337H ATM_uc009yxr.1_Missense_Mutation_p.R337H NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 337 R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.R337C(2)|p.R337S(2)|p.R337H(1) haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TCAGGATTTCGTAATATTGCC 0.323 NaN D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 0 0 0 0.024334 0 25 32 VPS26B 112936 broad.mit.edu 37 11 134114848 134114848 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr11:134114848C>G uc001qhe.2 + 5 1194 c.738C>G c.(736-738)ATC>ATG p.I246M NM_052875 NP_443107 Q4G0F5 VP26B_HUMAN vacuolar protein sorting 26 homolog B 246 protein transport|vacuolar transport cytosol|retromer complex 0 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216) CCATCCCGATCCGGCTCTTCC 0.582 NaN OREG0021548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009718 0 37 67 LRTM2 654429 broad.mit.edu 37 12 1940449 1940449 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr12:1940449C>T uc001qjt.2 + 4 1222 c.416C>T c.(415-417)TCG>TTG p.S139L CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.S139L|LRTM2_uc010sdx.1_Missense_Mutation_p.S139L|LRTM2_uc001qjv.2_Intron NM_001039029 NP_001034118 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 139 Extracellular (Potential).|LRR 3. integral to membrane large_intestine(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) CTGCGGCACTCGCCGCTGCTC 0.652 NaN 0 0 0 0.01441 0 96 100 DNM1L 10059 broad.mit.edu 37 12 32873665 32873665 + Nonsense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr12:32873665C>T uc001rld.2 + 8 969 c.808C>T c.(808-810)CAA>TAA p.Q270* DNM1L_uc010skf.1_RNA|DNM1L_uc010skg.1_RNA|DNM1L_uc001rle.2_Nonsense_Mutation_p.Q270*|DNM1L_uc001rlf.2_Nonsense_Mutation_p.Q270*|DNM1L_uc010skh.1_Nonsense_Mutation_p.Q336*|DNM1L_uc001rlg.2_Nonsense_Mutation_p.Q336*|DNM1L_uc001rlh.2_Nonsense_Mutation_p.Q323*|DNM1L_uc010ski.1_Nonsense_Mutation_p.Q67* NM_012062 NP_036192 O00429 DNM1L_HUMAN dynamin 1-like isoform 1 270 GTPase domain. cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGCTTTTCTTCAAAAGAAATA 0.348 NaN 0 0 0 0.009535 0 31 53 ERBB3 2065 broad.mit.edu 37 12 56478817 56478817 + Missense_Mutation SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr12:56478817G>A uc001sjh.2 + 3 466 c.273G>A c.(271-273)ATG>ATA p.M91I ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.M32I|ERBB3_uc001sjg.2_Missense_Mutation_p.M91I NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 91 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TCGTGGCCATGAATGAATTCT 0.473 NaN 0 0 0 0.01441 0 57 107 OAS3 4940 broad.mit.edu 37 12 113385903 113385903 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr12:113385903C>T uc001tug.2 + 5 1115 c.1028C>T c.(1027-1029)CCG>CTG p.P343L NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN 2'-5'oligoadenylate synthetase 3 343 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding central_nervous_system(1) 1 TGGAAGGGGCCGGTAAGTGAG 0.567 NaN 0 0 0 0.010504 0 18 32 ATP12A 479 broad.mit.edu 37 13 25283562 25283562 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr13:25283562C>T uc001upp.2 + 18 2741 c.2554C>T c.(2554-2556)CGC>TGC p.R852C ATP12A_uc010aaa.2_Missense_Mutation_p.R858C NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 852 Cytoplasmic (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CAGGAAGCCTCGCCACAAGAA 0.557 NaN 0 0 0 0.015359 0 34 37 BRCA2 675 broad.mit.edu 37 13 32910686 32910686 + Missense_Mutation SNP G G C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr13:32910686G>C uc001uub.1 + 11 2421 c.2194G>C c.(2194-2196)GAG>CAG p.E732Q NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 732 Interaction with NPM1. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TATAAAAGAAGAGGTCTTGGC 0.373 NaN D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 0 0 0 0.027356 0 26 29 TRPC4 7223 broad.mit.edu 37 13 38211379 38211379 + Missense_Mutation SNP G G T rs146885289 TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr13:38211379G>T uc001uws.2 - 11 2830 c.2595C>A c.(2593-2595)TTC>TTA p.F865L TRPC4_uc010abv.2_Missense_Mutation_p.F445L|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.F692L|TRPC4_uc010abx.2_Missense_Mutation_p.F870L|TRPC4_uc010aby.2_Intron NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 865 Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.F865F(1) ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CTGAAACAGAGAAGATTTGGT 0.413 NaN 1 0 5.18039e-06 0.00308 5.29615e-06 7 79 THSD1 55901 broad.mit.edu 37 13 52952331 52952331 + Missense_Mutation SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr13:52952331G>A uc001vgo.2 - 5 2319 c.1774C>T c.(1774-1776)CCG>TCG p.P592S THSD1_uc001vgp.2_Missense_Mutation_p.P539S|THSD1_uc010tgz.1_Missense_Mutation_p.P213S|THSD1_uc010aea.2_Missense_Mutation_p.P53S NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 592 Cytoplasmic (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) GGCTGCTCCGGAAATGGGGAT 0.582 NaN 0 0 0 0.01441 0 68 83 THSD1 55901 broad.mit.edu 37 13 52952573 52952573 + Missense_Mutation SNP G G C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr13:52952573G>C uc001vgo.2 - 5 2077 c.1532C>G c.(1531-1533)TCT>TGT p.S511C THSD1_uc001vgp.2_Missense_Mutation_p.S458C|THSD1_uc010tgz.1_Missense_Mutation_p.S132C|THSD1_uc010aea.2_5'UTR NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 511 Cytoplasmic (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) CTCGCTGCCAGAGGCATCATC 0.602 NaN 0 0 0 0.01441 0 66 100 THSD1 55901 broad.mit.edu 37 13 52952895 52952895 + Nonsense_Mutation SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr13:52952895G>A uc001vgo.2 - 5 1755 c.1210C>T c.(1210-1212)CAG>TAG p.Q404* THSD1_uc001vgp.2_Nonsense_Mutation_p.Q351*|THSD1_uc010tgz.1_Nonsense_Mutation_p.Q25*|THSD1_uc010aea.2_5'UTR NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 404 Extracellular (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) CCCTGGGGCTGAAGAGGAGAT 0.393 NaN 0 0 0 0.027356 0 26 46 DACH1 1602 broad.mit.edu 37 13 72147065 72147065 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr13:72147065C>T uc010thn.1 - 5 1629 c.1206G>A c.(1204-1206)ATG>ATA p.M402I DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 454 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TCATCTGGCTCATTGCCATGG 0.453 NaN 0 0 0 0.010818 0 33 47 CHD8 57680 broad.mit.edu 37 14 21894345 21894345 + Nonsense_Mutation SNP G G C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr14:21894345G>C uc001was.1 - 5 915 c.821C>G c.(820-822)TCA>TGA p.S274* CHD8_uc001war.1_Nonsense_Mutation_p.S170* NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 553 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TTCCACATCTGAATTATCAGA 0.373 NaN 0 0 0 0.024245 0 15 16 DHRS4L1 728635 broad.mit.edu 37 14 24506961 24506961 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr14:24506961C>G uc010alc.2 + 2 138 c.138C>G c.(136-138)TTC>TTG p.F46L DHRS4L1_uc010tnu.1_Intron NM_001082488 NP_001075957 P0CG22 DR4L1_HUMAN dehydrogenase/reductase (SDR family) member 4 46 NADP (By similarity). binding|oxidoreductase activity 0 GGATCGGCTTCGCCGTCGCCC 0.458 NaN 0 0 0 0.008291 0 9 64 C14orf182 283551 broad.mit.edu 37 14 50472404 50472404 + Silent SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr14:50472404C>T uc001wxi.1 - 1 1835 c.114G>A c.(112-114)CCG>CCA p.P38P NM_001012706 NP_001012724 A1A4T8 CN182_HUMAN hypothetical protein LOC283551 38 0 AAAGACCTCTCGGTTCGTGAA 0.537 NaN 0 0 0 0.01441 0 140 180 KIAA0284 283638 broad.mit.edu 37 14 105361169 105361169 + Silent SNP A A C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr14:105361169A>C uc010axb.2 + 19 4763 c.4539A>C c.(4537-4539)TCA>TCC p.S1513S INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.S1443S|KIAA0284_uc001yps.2_Silent_p.S1454S|KIAA0284_uc001ypt.2_Silent_p.S181S NM_001112726 NP_001106197 Q9Y4F5 K0284_HUMAN hypothetical protein LOC283638 isoform 1 1548 cytoplasm|microtubule breast(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) GCCCACCCTCACCCGCCTCAG 0.711 NaN 0 0 0 0.021523 0 7 24 DUOX2 50506 broad.mit.edu 37 15 45399061 45399061 + Silent SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr15:45399061G>A uc010bea.2 - 15 2003 c.1800C>T c.(1798-1800)ATC>ATT p.I600I DUOX2_uc001zun.2_Silent_p.I600I NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 600 Extracellular (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CAATGATGGTGATGGCAAAAC 0.597 NaN 0 0 0 0.001984 0 7 11 RPP25 54913 broad.mit.edu 37 15 75248616 75248616 + Silent SNP G G C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr15:75248616G>C uc002azj.1 - 1 1160 c.309C>G c.(307-309)CGC>CGG p.R103R NM_017793 NP_060263 Q9BUL9 RPP25_HUMAN ribonuclease P 25kDa subunit 103 tRNA processing nucleus protein binding|ribonuclease P activity|RNA binding 0 GCCACACCTCGCGTACGCTCC 0.716 NaN 0 0 0 0.00308 0 7 18 RHOT2 89941 broad.mit.edu 37 16 723543 723543 + Silent SNP C C T rs140204401 TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr16:723543C>T uc002cip.2 + 19 1861 c.1794C>T c.(1792-1794)GTC>GTT p.V598V RHOT2_uc002ciq.2_Silent_p.V491V|RHOT2_uc010bqy.2_Silent_p.V377V|RHBDL1_uc002cir.1_5'Flank|RHBDL1_uc010uun.1_5'Flank|RHBDL1_uc002cis.1_5'Flank NM_138769 NP_620124 Q8IXI1 MIRO2_HUMAN ras homolog gene family, member T2 598 Miro 2.|Helical; Anchor for type IV membrane protein; (Potential). apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding pancreas(1) 1 Hepatocellular(780;0.0218) TGGGGGTTGTCGGGGCCGCCG 0.627 NaN 0 0 0 0.01441 0 127 144 MRPS34 65993 broad.mit.edu 37 16 1822511 1822511 + Missense_Mutation SNP T T C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr16:1822511T>C uc002cmo.2 - 3 388 c.368A>G c.(367-369)AAG>AGG p.K123R NME3_uc002cmm.2_5'Flank|NME3_uc010brv.2_5'Flank|MRPS34_uc002cmn.2_5'UTR|MRPS34_uc002cmp.1_Missense_Mutation_p.K130R|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank NM_023936 NP_076425 P82930 RT34_HUMAN mitochondrial ribosomal protein S34 123 mitochondrion|ribosome protein binding skin(2) 2 GCTCTCAGTCTTCCCTGATGA 0.627 NaN 0 0 0 0.020292 0 12 321 RPS2 6187 broad.mit.edu 37 16 2012571 2012571 + Silent SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr16:2012571C>T uc002cnn.2 - 5 824 c.636G>A c.(634-636)AAG>AAA p.K212K RPS2_uc010bsa.1_RNA|RPS2_uc002cnl.2_Silent_p.K154K|RPS2_uc002cnm.2_RNA|RPS2_uc002cno.2_Silent_p.K212K|SNORA10_uc002cnp.1_5'Flank|SNHG9_uc002cnr.2_5'Flank|SNORA78_uc002cns.1_5'Flank NM_002952 NP_002943 P15880 RS2_HUMAN ribosomal protein S2 212 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleoplasm fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome 0 TCATGAGCAGCTTCTTAGGCA 0.632 NaN 0 0 0 0.01441 0 44 53 PAQR4 124222 broad.mit.edu 37 16 3021898 3021898 + Silent SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr16:3021898C>T uc002csj.3 + 3 1105 c.771C>T c.(769-771)GGC>GGT p.G257G PAQR4_uc002csk.3_Silent_p.G218G|PAQR4_uc002csl.3_Silent_p.G183G|PAQR4_uc010uwm.1_Silent_p.G188G NM_152341 NP_689554 Q8N4S7 PAQR4_HUMAN progestin and adipoQ receptor family member IV 257 Helical; (Potential). integral to membrane receptor activity 0 TGCACGCCGGCGTCGTGCCCG 0.672 NaN 0 0 0 0.01441 0 42 64 TEKT5 146279 broad.mit.edu 37 16 10721530 10721530 + Missense_Mutation SNP G G C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr16:10721530G>C uc002czz.1 - 7 1440 c.1368C>G c.(1366-1368)ATC>ATG p.I456M NM_144674 NP_653275 Q96M29 TEKT5_HUMAN tektin 5 456 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 TGTTGGCCTTGATGGCGAGCT 0.647 NaN 0 0 0 0.01441 0 73 83 HS3ST4 9951 broad.mit.edu 37 16 26146939 26146939 + Silent SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr16:26146939G>A uc002dof.2 + 2 1133 c.741G>A c.(739-741)GTG>GTA p.V247V NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN heparan sulfate D-glucosaminyl 247 Lumenal (Potential). heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity large_intestine(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.0988) CTAGAAATGTGATGCCCAAGA 0.423 NaN 0 0 0 0.01892 0 25 30 PRSS54 221191 broad.mit.edu 37 16 58320015 58320015 + Silent SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr16:58320015G>A uc002enf.2 - 5 743 c.348C>T c.(346-348)ATC>ATT p.I116I PRSS54_uc002eng.2_Silent_p.I116I|PRSS54_uc010vie.1_Silent_p.I17I NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN plasma kallikrein-like protein 4 precursor 116 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 CCTCATGGATGATGATGGTAT 0.458 NaN 0 0 0 0.01441 0 72 111 PRSS54 221191 broad.mit.edu 37 16 58320044 58320044 + Missense_Mutation SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr16:58320044G>A uc002enf.2 - 5 714 c.319C>T c.(319-321)CAC>TAC p.H107Y PRSS54_uc002eng.2_Missense_Mutation_p.H107Y|PRSS54_uc010vie.1_Missense_Mutation_p.H8Y NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN plasma kallikrein-like protein 4 precursor 107 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 TACTCTGTGTGAGCAATCTTG 0.453 NaN 0 0 0 0.01441 0 68 96 CDH1 999 broad.mit.edu 37 16 68847234 68847234 + Missense_Mutation SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr16:68847234G>A uc002ewg.1 + 9 1280 c.1156G>A c.(1156-1158)GAG>AAG p.E386K CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Intron NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 386 Cadherin 3.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.Y380_K440del(5)|p.E386*(1) breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) TCAGGTGCCTGAGAACGAGGC 0.493 NaN Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer 0 0 0 0.01441 0 60 67 KIAA0664 23277 broad.mit.edu 37 17 2605306 2605306 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr17:2605306C>T uc002fuy.1 - 4 493 c.407G>A c.(406-408)CGA>CAA p.R136Q KIAA0664_uc002fux.1_Missense_Mutation_p.R68Q NM_015229 NP_056044 O75153 K0664_HUMAN hypothetical protein LOC23277 136 binding breast(2) 2 GAGCAGGTCTCGGACATGGCG 0.622 NaN 0 0 0 0.01892 0 25 45 AIPL1 23746 broad.mit.edu 37 17 6337283 6337283 + Missense_Mutation SNP A A G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr17:6337283A>G uc002gcp.2 - 2 327 c.232T>C c.(232-234)TCC>CCC p.S78P AIPL1_uc002gcq.2_Intron|AIPL1_uc002gcr.2_Missense_Mutation_p.S78P|AIPL1_uc010clk.2_Missense_Mutation_p.S56P|AIPL1_uc010cll.2_Missense_Mutation_p.S78P|AIPL1_uc002gcs.2_Missense_Mutation_p.S78P NM_014336 NP_055151 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting 78 PPIase FKBP-type. protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding 0 COAD - Colon adenocarcinoma(228;0.141) ACCCGCATGGAGGTAAGCAGG 0.597 NaN 0 0 0 0.020292 0 13 48 AATF 26574 broad.mit.edu 37 17 35343960 35343960 + Nonsense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr17:35343960C>T uc002hni.2 + 5 1128 c.877C>T c.(877-879)CAG>TAG p.Q293* AATF_uc002hnj.2_RNA NM_012138 NP_036270 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor 293 POLR2J binding. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity 0 Breast(25;0.00607) GGTAGGTCTTCAGGAAGAGTT 0.413 NaN 0 0 0 0.021523 0 23 70 CDC6 990 broad.mit.edu 37 17 38457718 38457718 + Splice_Site SNP A A G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr17:38457718A>G uc002huj.1 + 11 1663 c.1453_splice c.e11-2 p.L485_splice NM_001254 NP_001245 Q99741 CDC6_HUMAN cell division cycle 6 protein cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity ovary(2)|breast(1) 3 GTTTCCTACCAGTTATATGAA 0.453 NaN 0 0 0 0.01441 0 74 113 RNF213 57674 broad.mit.edu 37 17 78318808 78318808 + Nonsense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr17:78318808C>T uc002jyh.1 + 4 1115 c.892C>T c.(892-894)CAG>TAG p.Q298* NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CCTGAATTATCAGCTCAGAGA 0.498 NaN 0 0 0 0.01441 0 120 141 PTPN2 5771 broad.mit.edu 37 18 12814236 12814236 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr18:12814236C>T uc002krp.2 - 7 1018 c.824G>A c.(823-825)GGA>GAA p.G275E PTPN2_uc002krl.2_Missense_Mutation_p.G275E|PTPN2_uc002krn.2_Missense_Mutation_p.G298E|PTPN2_uc002kro.2_Missense_Mutation_p.G275E|PTPN2_uc002krm.2_Missense_Mutation_p.G275E NM_002828 NP_002819 P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 275 Tyrosine-protein phosphatase. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway endoplasmic reticulum|nucleoplasm protein binding skin(2) 2 Lung NSC(161;8.94e-06) ACATTTTGCTCCTTCTATTAT 0.323 NaN 0 0 0 0.009096 0 4 51 INO80C 125476 broad.mit.edu 37 18 33077830 33077830 + Silent SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr18:33077830C>T uc002kyy.3 - 1 126 c.9G>A c.(7-9)GCG>GCA p.A3A INO80C_uc002kyw.1_Silent_p.A3A|INO80C_uc002kyx.3_5'Flank|INO80C_uc010dmt.2_Silent_p.A3A NM_194281 NP_919257 Q6PI98 IN80C_HUMAN Ies6-similar protein isoform 2 3 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|MLL1 complex 0 TTGGAATTTGCGCCGCCATCG 0.607 NaN 0 0 0 0.007413 0 15 23 DOT1L 84444 broad.mit.edu 37 19 2213964 2213964 + Silent SNP C C A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr19:2213964C>A uc002lvb.3 + 18 1812 c.1776C>A c.(1774-1776)CTC>CTA p.L592L DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_RNA|DOT1L_uc002lve.1_5'Flank NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 592 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCGCGCGCTCCGCGGCCAGA 0.672 NaN 1 0 3.00063e-23 0.01441 3.11997e-23 59 61 DOT1L 84444 broad.mit.edu 37 19 2222507 2222507 + Silent SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr19:2222507C>T uc002lvb.3 + 24 3375 c.3339C>T c.(3337-3339)GTC>GTT p.V1113V DOT1L_uc002lvc.1_Silent_p.V407V|DOT1L_uc002lve.1_3'UTR NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 1113 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGCCGTCCGTCGCTGGCCTTT 0.687 NaN 0 0 0 0.010771 0 37 40 TJP3 27134 broad.mit.edu 37 19 3747941 3747941 + Silent SNP C C T rs142779832 TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr19:3747941C>T uc010xhv.1 + 18 2571 c.2571C>T c.(2569-2571)GAC>GAT p.D857D TJP3_uc010xhs.1_Silent_p.D824D|TJP3_uc010xht.1_Silent_p.D788D|TJP3_uc010xhu.1_Silent_p.D833D|TJP3_uc010xhw.1_Silent_p.D843D NM_014428 NP_055243 O95049 ZO3_HUMAN tight junction protein 3 838 tight junction protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GCTACACAGACGGCGAGGGGG 0.697 NaN 0 0 0 0.010818 0 31 60 HDGFRP2 84717 broad.mit.edu 37 19 4501319 4501319 + Missense_Mutation SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr19:4501319G>A uc002mao.2 + 16 1999 c.1906G>A c.(1906-1908)GAC>AAC p.D636N HDGFRP2_uc002map.2_Missense_Mutation_p.D636N|HDGFRP2_uc010dua.2_Intron|HDGFRP2_uc002maq.1_Missense_Mutation_p.D106N NM_001001520 NP_001001520 Q7Z4V5 HDGR2_HUMAN hepatoma-derived growth factor-related protein 2 636 transcription, DNA-dependent nucleus DNA binding|protein binding 0 CTCCTCTGAAGACCTGCACGA 0.672 NaN 0 0 0 0.01441 0 50 81 RFX2 5990 broad.mit.edu 37 19 6007099 6007099 + Nonsense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr19:6007099C>T uc002meb.2 - 12 1595 c.1326G>A c.(1324-1326)TGG>TGA p.W442* RFX2_uc002mec.2_Nonsense_Mutation_p.W417*|RFX2_uc002med.1_3'UTR NM_000635 NP_000626 P48378 RFX2_HUMAN regulatory factor X2 isoform a 442 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|ovary(1)|skin(1) 6 AGCTCCTCATCCACCTGAGGA 0.657 NaN 0 0 0 0.01441 0 67 98 GPR108 56927 broad.mit.edu 37 19 6735965 6735965 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr19:6735965C>G uc002mfp.2 - 3 291 c.245G>C c.(244-246)GGG>GCG p.G82A GPR108_uc002mfn.2_5'UTR|GPR108_uc002mfo.3_5'UTR|GPR108_uc010duw.2_RNA NM_001080452 NP_001073921 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 isoform 1 82 integral to membrane 0 GAGACTGAACCCCACCTGGTG 0.552 NaN OREG0025202 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.028581 0 14 47 MUC16 94025 broad.mit.edu 37 19 9076763 9076763 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr19:9076763C>T uc002mkp.2 - 3 10887 c.10683G>A c.(10681-10683)ATG>ATA p.M3561I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3562 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCATGGTACTCATACCCACTT 0.542 NaN OREG0007306 type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 0 0 0 0.024245 0 14 143 ICAM5 7087 broad.mit.edu 37 19 10403332 10403332 + Missense_Mutation SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr19:10403332G>A uc002mnu.3 + 5 1071 c.1006G>A c.(1006-1008)GAG>AAG p.E336K ICAM5_uc002mnv.3_Missense_Mutation_p.E211K NM_003259 NP_003250 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5 precursor 336 Extracellular (Potential). cell-cell adhesion integral to plasma membrane breast(3) 3 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) CAGCGTCTCCGAGGGGCAGAT 0.657 NaN 0 0 0 0.017118 0 36 55 EPS15L1 58513 broad.mit.edu 37 19 16532171 16532171 + Silent SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr19:16532171G>A uc002ndz.1 - 10 915 c.909C>T c.(907-909)TTC>TTT p.F303F EPS15L1_uc002ndx.2_Silent_p.F303F|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.F193F|EPS15L1_uc010xpf.1_Silent_p.F206F|EPS15L1_uc002nea.1_Silent_p.F303F|EPS15L1_uc010eah.1_Silent_p.F303F|EPS15L1_uc002neb.1_Silent_p.F149F|EPS15L1_uc002nec.1_Silent_p.F303F NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 303 EH 3. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 CCGAGTGCATGAAGATCTCCT 0.577 NaN 0 0 0 0.01441 0 48 43 FCHO1 23149 broad.mit.edu 37 19 17897393 17897393 + Missense_Mutation SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr19:17897393G>A uc010ebb.2 + 26 2626 c.2437G>A c.(2437-2439)GAG>AAG p.E813K FCHO1_uc002nhg.3_Missense_Mutation_p.E813K|FCHO1_uc002nhh.2_Missense_Mutation_p.E813K|FCHO1_uc010xpw.1_Missense_Mutation_p.E763K|FCHO1_uc002nhi.2_Missense_Mutation_p.E269K|FCHO1_uc002nhj.2_Missense_Mutation_p.E157K NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 813 breast(1) 1 GAACCTGGAGGAGAAGCGGCT 0.493 NaN 0 0 0 0.00499 0 17 25 ZNF155 7711 broad.mit.edu 37 19 44501575 44501575 + Missense_Mutation SNP G G C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr19:44501575G>C uc002oxy.1 + 5 1771 c.1566G>C c.(1564-1566)AAG>AAC p.K522N ZNF155_uc002oxz.1_Missense_Mutation_p.K522N|ZNF155_uc010xwt.1_Missense_Mutation_p.K533N|uc010ejc.1_RNA NM_003445 NP_003436 Q12901 ZN155_HUMAN zinc finger protein 155 522 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(69;0.0352) GACGCTACAAGAGGCGCTTGA 0.303 NaN 0 0 0 0.023175 0 38 68 RPL18 6141 broad.mit.edu 37 19 49119427 49119427 + Silent SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr19:49119427G>A uc002pjq.1 - 5 363 c.330C>T c.(328-330)CGC>CGT p.R110R FAM83E_uc002pjn.2_5'Flank|RPL18_uc002pjp.1_Silent_p.R58R|RPL18_uc010xzs.1_3'UTR NM_000979 NP_000970 Q07020 RL18_HUMAN ribosomal protein L18 110 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome 0 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154) GGATGCGGCTGCGGGCCCGGC 0.667 NaN 0 0 0 0.01441 0 76 86 PRKCG 5582 broad.mit.edu 37 19 54403679 54403679 + Silent SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr19:54403679C>T uc002qcq.1 + 13 1662 c.1380C>T c.(1378-1380)TAC>TAT p.Y460Y PRKCG_uc010yeg.1_Silent_p.Y460Y|PRKCG_uc010yeh.1_Silent_p.Y347Y NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 460 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CCAGGTTCTACGCGGCAGAAA 0.597 NaN 0 0 0 0.00632 0 25 92 HSPBP1 23640 broad.mit.edu 37 19 55773977 55773977 + Nonstop_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr19:55773977C>G uc002qjx.2 - 7 1327 c.1217G>C c.(1216-1218)TGA>TCA p.*406S HSPBP1_uc002qjy.2_Nonstop_Mutation_p.*360S|HSPBP1_uc002qkb.2_3'UTR|HSPBP1_uc002qka.2_Nonstop_Mutation_p.*360S|HSPBP1_uc002qkd.2_Nonstop_Mutation_p.*360S|HSPBP1_uc002qkc.2_Nonstop_Mutation_p.*360S NM_012267 NP_036399 Q9NZL4 HPBP1_HUMAN hsp70-interacting protein 406 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding enzyme inhibitor activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CACCTGGTTTCACCGATCCAT 0.622 NaN 0 0 0 0.024245 0 14 21 ZNF667 63934 broad.mit.edu 37 19 56969551 56969551 + Nonsense_Mutation SNP C C A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr19:56969551C>A uc002qnd.2 - 4 388 c.226G>T c.(226-228)GAG>TAG p.E76* ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Nonsense_Mutation_p.E76*|ZNF667_uc010etm.2_5'UTR NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 76 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) CTTACTGGCTCTACCATCCAG 0.368 NaN 1 0 6.49762e-13 0.006122 6.68014e-13 18 40 ZNF548 147694 broad.mit.edu 37 19 57910375 57910375 + Silent SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr19:57910375C>T uc002qom.2 + 3 970 c.720C>T c.(718-720)TTC>TTT p.F240F ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Silent_p.F243F NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 240 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTGCCAATTTCATGAAACATC 0.393 NaN 0 0 0 0.014323 0 23 37 EMILIN1 11117 broad.mit.edu 37 2 27301966 27301966 + Silent SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr2:27301966C>G uc002rii.3 + 1 461 c.33C>G c.(31-33)CTC>CTG p.L11L EMILIN1_uc010eyq.1_Silent_p.L11L NM_007046 NP_008977 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 precursor 11 cell adhesion collagen pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTGCTACCTCTGCTGCCTGC 0.726 NaN 0 0 0 0.010504 0 15 15 EMILIN1 11117 broad.mit.edu 37 2 27302012 27302012 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr2:27302012C>G uc002rii.3 + 1 507 c.79C>G c.(79-81)CGA>GGA p.R27G EMILIN1_uc010eyq.1_Missense_Mutation_p.R27G NM_007046 NP_008977 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 precursor 27 cell adhesion collagen pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTACCCTCCTCGAGGTTTCAG 0.716 NaN 0 0 0 0.006122 0 16 14 REEP1 65055 broad.mit.edu 37 2 86459784 86459784 + Missense_Mutation SNP T T A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr2:86459784T>A uc002srh.3 - 6 703 c.559A>T c.(559-561)ATG>TTG p.M187L REEP1_uc010ytg.1_Missense_Mutation_p.M166L|REEP1_uc010yth.1_Missense_Mutation_p.M160L|REEP1_uc010yti.1_Missense_Mutation_p.R108S NM_022912 NP_075063 Q9H902 REEP1_HUMAN receptor accessory protein 1 isoform 2 187 cell death|protein insertion into membrane integral to membrane|mitochondrial membrane olfactory receptor binding 0 CTCCTGGACATCTTAGGCTGG 0.647 NaN 0 0 0 0.027356 0 25 31 SH3RF3 344558 broad.mit.edu 37 2 110015235 110015235 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr2:110015235C>T uc010ywt.1 + 4 1135 c.1135C>T c.(1135-1137)CGC>TGC p.R379C NM_001099289 NP_001092759 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 379 zinc ion binding ovary(1) 1 CACCAAGAAACGCCACTCCTT 0.597 NaN 0 0 0 0.024245 0 16 40 CCDC93 54520 broad.mit.edu 37 2 118731529 118731529 + Silent SNP G G C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr2:118731529G>C uc002tlj.2 - 11 969 c.843C>G c.(841-843)CTC>CTG p.L281L CCDC93_uc010fld.1_Silent_p.L281L NM_019044 NP_061917 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 281 Potential. large_intestine(1)|ovary(1) 2 CAGCAGAGCAGAGTCCCACAA 0.542 NaN 0 0 0 0.016723 0 11 17 UBXN4 23190 broad.mit.edu 37 2 136519444 136519444 + Nonsense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr2:136519444C>T uc002tur.2 + 6 876 c.565C>T c.(565-567)CAG>TAG p.Q189* UBXN4_uc002tus.2_Intron NM_014607 NP_055422 Q92575 UBXN4_HUMAN UBX domain containing 2 189 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding skin(2) 2 ATGCTCAGATCAGAGACCTGC 0.388 NaN 0 0 0 0.016522 0 19 26 FAP 2191 broad.mit.edu 37 2 163029727 163029727 + Nonsense_Mutation SNP G G C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr2:163029727G>C uc002ucd.2 - 24 2247 c.2039C>G c.(2038-2040)TCA>TGA p.S680* FAP_uc010fpc.2_Nonsense_Mutation_p.S229*|FAP_uc010zct.1_Nonsense_Mutation_p.S655*|FAP_uc010fpd.2_Nonsense_Mutation_p.S159* NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 680 Extracellular (Potential). 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 ovary(3) 3 CATCACAGTTGAATTCTGGAA 0.348 NaN 0 0 0 0.019004 0 34 55 UBR3 130507 broad.mit.edu 37 2 170917627 170917627 + Silent SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr2:170917627G>A uc010zdi.1 + 34 4824 c.4824G>A c.(4822-4824)CTG>CTA p.L1608L UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Silent_p.L429L|UBR3_uc002uft.3_Silent_p.L465L|UBR3_uc010zdj.1_Silent_p.L299L|UBR3_uc002ufu.3_Silent_p.L114L NM_172070 NP_742067 Q6ZT12 UBR3_HUMAN E3 ubiquitin-protein ligase UBR3 1608 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding 0 AAGTATTACTGAGCTTTGTGA 0.318 NaN 0 0 0 0.004482 0 8 90 CENPB 1059 broad.mit.edu 37 20 3765860 3765860 + Missense_Mutation SNP T T A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr20:3765860T>A uc002wjk.2 - 1 1478 c.1271A>T c.(1270-1272)GAA>GTA p.E424V CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank NM_001810 NP_001801 P07199 CENPB_HUMAN centromere protein B 424 Glu-rich (acidic). regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding 0 ctcctcctcttcctctccttc 0.139 NaN 0 0 0 0.00499 0 18 37 CHD6 84181 broad.mit.edu 37 20 40049283 40049283 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr20:40049283C>G uc002xka.1 - 31 6170 c.5992G>C c.(5992-5994)GAA>CAA p.E1998Q NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1998 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) TTCCAAGGTTCTTTTAAAAGC 0.418 NaN 0 0 0 0.01441 0 57 75 PCIF1 63935 broad.mit.edu 37 20 44569785 44569786 + Missense_Mutation DNP CC CC GT TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr20:44569785_44569786CC>GT uc002xqs.2 + 7 926_927 c.612_613CC>GT c.(610-615)CTCCGC>CTGTGC p.R205C NM_022104 NP_071387 Q9H4Z3 PCIF1_HUMAN phosphorylated CTD interacting factor 1 205 nucleus skin(1) 1 TGGAACTGCTCCGCTCTCAGCT 0.614 NaN 0 0 0 0.004672 0 67 97 CDH22 64405 broad.mit.edu 37 20 44815269 44815269 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr20:44815269C>T uc002xrm.2 - 9 2022 c.1621G>A c.(1621-1623)GAA>AAA p.E541K CDH22_uc010ghk.1_Missense_Mutation_p.E541K NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 541 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) CTGGGAGCTTCAGGCACCAGG 0.592 NaN 0 0 0 0.01441 0 60 67 C20orf43 51507 broad.mit.edu 37 20 55049783 55049784 + Missense_Mutation DNP GA GA AT TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr20:55049783_55049784GA>AT uc002xxt.2 + 3 321_322 c.214_215GA>AT c.(214-216)GAA>ATA p.E72I C20orf43_uc010zzf.1_Missense_Mutation_p.E102I|C20orf43_uc002xxu.2_Missense_Mutation_p.E72I|C20orf43_uc002xxv.2_Missense_Mutation_p.E72I NM_016407 NP_057491 Q9BY42 CT043_HUMAN hypothetical protein LOC51507 72 ovary(1) 1 Colorectal(105;0.202) CAAATCTGCAGAAAAGGCTCTT 0.381 NaN 0 0 0 0.004672 0 52 93 CLDN14 23562 broad.mit.edu 37 21 37833619 37833619 + Silent SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr21:37833619G>A uc002yvk.1 - 2 517 c.375C>T c.(373-375)TTC>TTT p.F125F CLDN14_uc002yvn.1_Silent_p.F125F|CLDN14_uc002yvo.1_Silent_p.F125F|CLDN14_uc002yvl.1_Silent_p.F125F|CLDN14_uc002yvm.1_Silent_p.F125F NM_012130 NP_036262 O95500 CLD14_HUMAN claudin 14 125 Helical; (Potential). calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity 0 CGGCCAGGATGAAGAGGGTGC 0.647 NaN 0 0 0 0.01441 0 78 146 HLCS 3141 broad.mit.edu 37 21 38126600 38126600 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr21:38126600C>T uc010gnb.2 - 11 3329 c.2128G>A c.(2128-2130)GAC>AAC p.D710N HLCS_uc002yvs.2_Missense_Mutation_p.D710N NM_000411 NP_000402 P50747 BPL1_HUMAN holocarboxylase synthetase 710 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding ovary(2)|breast(1)|kidney(1)|liver(1) 5 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) GAGTTGCCGTCCGGGTGCACA 0.637 NaN 0 0 0 0.00308 0 8 41 DNMT3L 29947 broad.mit.edu 37 21 45681066 45681066 + Nonsense_Mutation SNP G G C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr21:45681066G>C uc002zeg.1 - 2 561 c.77C>G c.(76-78)TCA>TGA p.S26* DNMT3L_uc002zeh.1_Nonsense_Mutation_p.S26* NM_175867 NP_787063 Q9UJW3 DNM3L_HUMAN cytosine-5-methyltransferase 3-like protein 26 DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding skin(2) 2 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) AACGGAGCTTGAGAGCTCACT 0.597 NaN 0 0 0 0.01441 0 108 148 MYH9 4627 broad.mit.edu 37 22 36708249 36708249 + Missense_Mutation SNP G G C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr22:36708249G>C uc003apg.2 - 14 1804 c.1573C>G c.(1573-1575)CTG>GTG p.L525V MYH9_uc003aph.1_Missense_Mutation_p.L389V NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 525 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 AGCAGGGCCAGAATGCCCGGG 0.637 NaN T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 0 0 0 0.024245 0 12 138 SAMM50 25813 broad.mit.edu 37 22 44364695 44364695 + Nonsense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr22:44364695C>T uc003bej.2 + 4 516 c.319C>T c.(319-321)CAA>TAA p.Q107* SAMM50_uc011aqd.1_5'UTR NM_015380 NP_056195 Q9Y512 SAM50_HUMAN sorting and assembly machinery component 50 107 protein import into mitochondrial outer membrane integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex protein binding skin(1) 1 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) TGACACATGTCAAGGTACATA 0.408 NaN 0 0 0 0.00499 0 16 83 CAND2 23066 broad.mit.edu 37 3 12858614 12858614 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr3:12858614C>T uc003bxk.2 + 10 2232 c.2183C>T c.(2182-2184)TCT>TTT p.S728F CAND2_uc003bxj.2_Missense_Mutation_p.S635F NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 728 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 CAGCCAGCCTCTTTGGTGGAG 0.652 NaN 0 0 0 0.01441 0 65 81 CBLB 868 broad.mit.edu 37 3 105400433 105400433 + Missense_Mutation SNP G G C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr3:105400433G>C uc003dwc.2 - 16 2640 c.2318C>G c.(2317-2319)TCT>TGT p.S773C CBLB_uc003dwa.2_Intron|CBLB_uc011bhi.1_Intron|CBLB_uc003dwd.1_Missense_Mutation_p.S773C|CBLB_uc003dwe.1_3'UTR NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 773 Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 CACGGGATCAGAGGCTGAATC 0.423 NaN Mis S AML 0 0 0 0.025465 0 36 74 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.00632 0 27 24 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 C G C C Valid Somatic Phase_I WXS RNASeq;WGS Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr4:1803568C>G uc003gdr.3 + 7 1002 c.746C>G c.(745-747)TCC>TGC p.S249C FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 249 Extracellular (Potential). S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.562 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.01441 0 25 6 LRPAP1 4043 broad.mit.edu 37 4 3516518 3516518 + Silent SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr4:3516518G>A uc003ghi.2 - 7 1057 c.972C>T c.(970-972)CAC>CAT p.H324H NM_002337 NP_002328 P30533 AMRP_HUMAN low density lipoprotein receptor-related protein 324 LDL receptor binding (Potential). negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) CCAGCAGGGCGTGCTTCTCGC 0.672 NaN 0 0 0 0.012213 0 21 153 SH3TC1 54436 broad.mit.edu 37 4 8224616 8224616 + Missense_Mutation SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr4:8224616G>A uc003gkv.3 + 10 1263 c.1162G>A c.(1162-1164)GAG>AAG p.E388K SH3TC1_uc003gkw.3_Missense_Mutation_p.E312K|SH3TC1_uc003gkx.3_RNA NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 388 binding large_intestine(2)|pancreas(1) 3 ATTCTTCAGCGAGGGCTGCTT 0.488 NaN 0 0 0 0.023175 0 40 53 SPATA18 132671 broad.mit.edu 37 4 52945953 52945953 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr4:52945953C>T uc003gzl.2 + 9 1501 c.1223C>T c.(1222-1224)CCT>CTT p.P408L SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.P376L|SPATA18_uc003gzk.1_Missense_Mutation_p.P408L NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 408 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) ATTTCATTCCCTCCTGTCGTT 0.438 NaN 0 0 0 0.01441 0 128 159 FRAS1 80144 broad.mit.edu 37 4 79403578 79403578 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr4:79403578C>G uc003hlb.2 + 58 9081 c.8641C>G c.(8641-8643)CCG>GCG p.P2881A NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2876 Calx-beta 3.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CACTCAGTATCCGGTAATTGA 0.453 NaN 0 0 0 0.01441 0 93 130 EGF 1950 broad.mit.edu 37 4 110866376 110866376 + Silent SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr4:110866376G>A uc003hzy.3 + 5 1337 c.885G>A c.(883-885)CTG>CTA p.L295L EGF_uc011cfu.1_Silent_p.L295L|EGF_uc011cfv.1_Silent_p.L295L NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 295 Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) TTGGTGAACTGAAAGTAGTGC 0.458 NaN 0 0 0 0.00499 0 15 19 SEC24D 9871 broad.mit.edu 37 4 119736285 119736285 + Silent SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr4:119736285G>A uc003ici.3 - 6 971 c.699C>T c.(697-699)GGC>GGT p.G233G SEC24D_uc003icj.3_Silent_p.G234G|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA|SEC24D_uc011cgg.1_RNA NM_014822 NP_055637 O94855 SC24D_HUMAN Sec24-related protein D 233 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 ACAGTTGTGCGCCTGCCATCT 0.512 NaN 0 0 0 0.009718 0 45 38 TBC1D9 23158 broad.mit.edu 37 4 141578845 141578845 + Silent SNP T T C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr4:141578845T>C uc010ioj.2 - 12 2315 c.2043A>G c.(2041-2043)CTA>CTG p.L681L NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 681 Rab-GAP TBC. intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) CACTGAGAAATAGTGTGAGGA 0.483 NaN 0 0 0 0.01441 0 61 60 ADAM29 11086 broad.mit.edu 37 4 175898670 175898670 + Missense_Mutation SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr4:175898670G>A uc003iuc.2 + 5 2664 c.1994G>A c.(1993-1995)GGC>GAC p.G665D ADAM29_uc003iud.2_Missense_Mutation_p.G665D|ADAM29_uc010irr.2_Missense_Mutation_p.G665D|ADAM29_uc011cki.1_Missense_Mutation_p.G665D NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 665 Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GTTGACAGTGGCCCACCCCCT 0.393 NaN 0 0 0 0.008361 0 29 27 FAT1 2195 broad.mit.edu 37 4 187541182 187541182 + Missense_Mutation SNP G G C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr4:187541182G>C uc003izf.2 - 10 6746 c.6558C>G c.(6556-6558)TTC>TTG p.F2186L NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2186 Extracellular (Potential).|Cadherin 20. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CTGCACTGTAGAAAGGTTTTT 0.512 NaN HNSCC(5;0.00058) 0 0 0 0.01441 0 62 72 EXOC3 11336 broad.mit.edu 37 5 454125 454125 + Missense_Mutation SNP G G C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr5:454125G>C uc003jba.2 + 4 1133 c.1005G>C c.(1003-1005)GAG>GAC p.E335D NM_007277 NP_009208 O60645 EXOC3_HUMAN Sec6 protein 346 exocytosis|protein transport 0 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) AAGCCAATGAGATCGTGAGCC 0.542 NaN 0 0 0 0.020292 0 11 19 PRLR 5618 broad.mit.edu 37 5 35065622 35065622 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr5:35065622C>G uc003jjm.2 - 10 1968 c.1438G>C c.(1438-1440)GAA>CAA p.E480Q PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.E379Q NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 480 Cytoplasmic (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TGGAAGCTTTCTACCTCCCTC 0.498 NaN 0 0 0 0.01441 0 52 77 SLCO4C1 353189 broad.mit.edu 37 5 101585389 101585389 + Missense_Mutation SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr5:101585389G>A uc003knm.2 - 9 1860 c.1573C>T c.(1573-1575)CCC>TCC p.P525S NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 525 Kazal-like.|Extracellular (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) GCAAAGCAGGGAGAAAAATAT 0.418 NaN 0 0 0 0.00499 0 18 27 PCDHA11 56138 broad.mit.edu 37 5 140249093 140249093 + Silent SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr5:140249093C>G uc003lia.2 + 1 1263 c.405C>G c.(403-405)CTC>CTG p.L135L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.L135L NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 135 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTCTCGCTCAGAGAACAAA 0.517 NaN 0 0 0 0.01441 0 202 261 ADAM19 8728 broad.mit.edu 37 5 156946865 156946865 + Silent SNP G G T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr5:156946865G>T uc003lwz.2 - 6 646 c.582C>A c.(580-582)ACC>ACA p.T194T ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Silent_p.T125T NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 194 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTCGCTTCTTGGTCTGTTGTG 0.542 NaN 1 0 3.07002e-29 0.01441 3.24747e-29 53 91 PANK3 79646 broad.mit.edu 37 5 167986163 167986163 + Splice_Site SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr5:167986163C>T uc003lzz.1 - 6 1237 c.937_splice c.e6-1 p.K313_splice MIR103-1AS_hsa-mir-103-1-as|MI0007261_5'Flank NM_024594 NP_078870 Q9H999 PANK3_HUMAN pantothenate kinase 3 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) TGTTTATTTTCTAAAAGAAAA 0.249 NaN 0 0 0 0.00632 0 29 19 OR2Y1 134083 broad.mit.edu 37 5 180167034 180167034 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr5:180167034C>G uc003mmf.1 - 1 25 c.25G>C c.(25-27)GAA>CAA p.E9Q NM_001001657 NP_001001657 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, 9 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGCCATCTTCAAAACTGGTG 0.438 NaN 0 0 0 0.01892 0 23 37 SERPINB6 5269 broad.mit.edu 37 6 2954877 2954877 + Missense_Mutation SNP C C T rs146252067 TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr6:2954877C>T uc003muk.2 - 3 2374 c.379G>A c.(379-381)GTA>ATA p.V127I SERPINB6_uc003mui.2_Missense_Mutation_p.V10I|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.V127I|SERPINB6_uc003mum.2_Missense_Mutation_p.V127I|SERPINB6_uc003mun.2_Missense_Mutation_p.V127I|SERPINB6_uc003muo.2_Missense_Mutation_p.V127I NM_004568 NP_004559 P35237 SPB6_HUMAN serine (or cysteine) proteinase inhibitor, clade 127 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) GACTTCTCTACGGCGCTGATA 0.393 NaN 0 0 0 0.01441 0 49 74 GCNT2 2651 broad.mit.edu 37 6 10621627 10621627 + Silent SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr6:10621627C>T uc010joo.2 + 4 1520 c.969C>T c.(967-969)CTC>CTT p.L323L GCNT2_uc010jol.2_Silent_p.L37L|GCNT2_uc010jom.2_RNA|GCNT2_uc010jop.2_RNA|GCNT2_uc003mza.2_RNA|GCNT2_uc003mzc.3_Silent_p.L322L|GCNT2_uc003mzd.2_Silent_p.L321L|GCNT2_uc003mze.2_Silent_p.L323L NM_145649 NP_663624 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, 323 Lumenal (Potential). Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2) 2 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) CTGGAAACCTCAGAGCTATAA 0.507 NaN 0 0 0 0.010504 0 18 28 ZKSCAN3 80317 broad.mit.edu 37 6 28333766 28333766 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr6:28333766C>T uc003nle.3 + 6 1537 c.1321C>T c.(1321-1323)CTC>TTC p.L441F ZKSCAN3_uc010jrc.2_Missense_Mutation_p.L441F|ZKSCAN3_uc003nlf.3_Missense_Mutation_p.L293F|uc010jrd.2_5'Flank NM_024493 NP_077819 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 441 C2H2-type 5. positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 AAGTTCACATCTCCTGAGACA 0.498 NaN 0 0 0 0.024334 0 26 35 DOM3Z 1797 broad.mit.edu 37 6 31938495 31938495 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr6:31938495C>G uc003nyo.1 - 3 1234 c.700G>C c.(700-702)GAG>CAG p.E234Q DOM3Z_uc003nyp.1_Missense_Mutation_p.E234Q|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_Missense_Mutation_p.E234Q|DOM3Z_uc003nys.1_3'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank NM_005510 NP_005501 O77932 DOM3Z_HUMAN DOM-3 homolog Z 234 GDP (By similarity). identical protein binding|metal ion binding|nucleotide binding 0 CAGTCTACCTCCCCTGAGAAG 0.617 NaN 0 0 0 0.01441 0 85 105 DOM3Z 1797 broad.mit.edu 37 6 31938905 31938905 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr6:31938905C>G uc003nyo.1 - 2 910 c.376G>C c.(376-378)GAG>CAG p.E126Q DOM3Z_uc003nyp.1_Missense_Mutation_p.E126Q|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_Missense_Mutation_p.E126Q|DOM3Z_uc003nys.1_Missense_Mutation_p.E126Q|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank NM_005510 NP_005501 O77932 DOM3Z_HUMAN DOM-3 homolog Z 126 identical protein binding|metal ion binding|nucleotide binding 0 ACTATGGCCTCTGCCAGCCAG 0.592 NaN 0 0 0 0.01441 0 44 74 HLA-DRB1 3123 broad.mit.edu 37 6 32551898 32551898 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr6:32551898C>T uc003obp.3 - 2 401 c.358G>A c.(358-360)GTG>ATG p.V120M HLA-DRB1_uc011dqa.1_Translation_Start_Site|HLA-DRB5_uc003obk.3_Intron|HLA-DRB6_uc003obo.1_RNA|HLA-DRB1_uc011dqb.1_5'Flank|HLA-DRB1_uc011dqc.1_Translation_Start_Site NM_002124 NP_002115 P01911 2B1F_HUMAN major histocompatibility complex, class II, DR 120 Beta-1.|Extracellular (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex skin(1) 1 CGCCGCTGCACTGTGAAGCTC 0.527 NaN Rheumatoid_Arthritis|Sj_gren_syndrome Multiple Myeloma(14;0.17) 0 0 0 0.00308 0 7 15 BAI3 577 broad.mit.edu 37 6 70098735 70098735 + Silent SNP G G C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr6:70098735G>C uc003pev.3 + 32 4969 c.4521G>C c.(4519-4521)CTG>CTC p.L1507L BAI3_uc010kak.2_Silent_p.L1507L|BAI3_uc011dxx.1_Silent_p.L713L NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1507 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) AGAAGTGTCTGAATTTGCCTC 0.418 NaN 0 0 0 0.009535 0 28 28 ASF1A 25842 broad.mit.edu 37 6 119221997 119221997 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr6:119221997C>T uc011ebn.1 + 2 513 c.176C>T c.(175-177)TCT>TTT p.S59F NM_014034 NP_054753 Q9Y294 ASF1A_HUMAN ASF1 anti-silencing function 1 homolog A 59 Interaction with histone H3, CHAF1B, and HIRA. chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent chromatin remodeling complex chromatin binding|histone binding 0 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188) GTTTTAGACTCTGTTTTAGTG 0.358 NaN 0 0 0 0.01441 0 82 110 STX11 8676 broad.mit.edu 37 6 144508138 144508138 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr6:144508138C>T uc003qks.3 + 2 566 c.374C>T c.(373-375)GCG>GTG p.A125V NM_003764 NP_003755 O75558 STX11_HUMAN syntaxin 11 125 HSAVAR -> ALGSGG (in Ref. 1; AAD02107). cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) TCGGCAGTGGCGCGCATTTCG 0.672 NaN Familial_Hemophagocytic_Lymphohistiocytosis 0 0 0 0.00632 0 28 39 FBXL18 80028 broad.mit.edu 37 7 5541202 5541202 + Missense_Mutation SNP A A G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr7:5541202A>G uc003soo.2 - 3 792 c.698T>C c.(697-699)TTC>TCC p.F233S FBXL18_uc003son.3_Missense_Mutation_p.F233S NM_024963 NP_079239 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 233 central_nervous_system(2)|ovary(1) 3 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) GCGCGCATAGAAGACCCGCAG 0.642 NaN 0 0 0 0.013537 0 13 87 SP4 6671 broad.mit.edu 37 7 21550696 21550696 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr7:21550696C>G uc003sva.2 + 6 2345 c.2164C>G c.(2164-2166)CTC>GTC p.L722V SP4_uc003svb.2_Missense_Mutation_p.L409V NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 722 C2H2-type 3. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 GAGTGATCATCTCTCCAAACA 0.413 NaN 0 0 0 0.019004 0 38 41 OSBPL3 26031 broad.mit.edu 37 7 24911608 24911608 + Silent SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr7:24911608C>T uc003sxf.2 - 3 582 c.177G>A c.(175-177)CTG>CTA p.L59L OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.L59L|OSBPL3_uc003sxh.2_Silent_p.L59L|OSBPL3_uc003sxi.2_Silent_p.L59L NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN oxysterol-binding protein-like protein 3 isoform 59 PH. lipid transport lipid binding|protein binding skin(1) 1 TCCTCTTTTTCAGCAAAAATC 0.502 NaN 0 0 0 0.008361 0 28 61 POLM 27434 broad.mit.edu 37 7 44113402 44113402 + Missense_Mutation SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr7:44113402G>A uc003tjt.2 - 9 1386 c.1294C>T c.(1294-1296)CTC>TTC p.L432F POLM_uc003tjw.1_Missense_Mutation_p.L51F|POLM_uc003tju.2_Missense_Mutation_p.L395F|POLM_uc003tjx.2_Missense_Mutation_p.L352F|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Missense_Mutation_p.L82F NM_013284 NP_037416 Q9NP87 DPOLM_HUMAN DNA-directed DNA polymerase mu 432 DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 GTCCAACCGAGCAGGGCGAAA 0.657 NaN DNA_polymerases_(catalytic_subunits) 0 0 0 0.012213 0 31 140 ASL 435 broad.mit.edu 37 7 65553885 65553885 + Silent SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr7:65553885C>T uc003tuo.2 + 11 921 c.810C>T c.(808-810)TTC>TTT p.F270F ASL_uc003tup.2_Silent_p.F270F|ASL_uc003tur.2_Silent_p.F244F|ASL_uc003tuq.2_Silent_p.F270F NM_000048 NP_000039 P04424 ARLY_HUMAN argininosuccinate lyase isoform 1 270 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(2) 2 L-Arginine(DB00125) AATTCAGCTTCGTGCAGCTCT 0.617 NaN 0 0 0 0.017118 0 38 41 AGFG2 3268 broad.mit.edu 37 7 100151029 100151029 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr7:100151029C>T uc003uvf.2 + 4 627 c.491C>T c.(490-492)CCT>CTT p.P164L AGFG2_uc003uvg.1_Intron|AGFG2_uc010lgy.2_Silent_p.L26L NM_006076 NP_006067 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 164 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding central_nervous_system(1) 1 GCCTCCACCCCTGTGCAGGGC 0.547 NaN 0 0 0 0.01441 0 66 96 ELP3 55140 broad.mit.edu 37 8 27995406 27995406 + Missense_Mutation SNP G G C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr8:27995406G>C uc003xgo.3 + 10 1246 c.1098G>C c.(1096-1098)CAG>CAC p.Q366H ELP3_uc003xgn.3_Missense_Mutation_p.Q351H|ELP3_uc011laq.1_Missense_Mutation_p.Q294H|ELP3_uc011lar.1_Missense_Mutation_p.Q274H|ELP3_uc011las.1_Missense_Mutation_p.Q247H|ELP3_uc011lat.1_Missense_Mutation_p.Q247H NM_018091 NP_060561 Q9H9T3 ELP3_HUMAN elongation protein 3 homolog 366 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding 0 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) ACCGAGTACAGAGGTAGTGTG 0.408 NaN 0 0 0 0.008291 0 11 13 CYP7A1 1581 broad.mit.edu 37 8 59404977 59404977 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr8:59404977C>G uc003xtm.3 - 5 1213 c.1150G>C c.(1150-1152)GAT>CAT p.D384H NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 384 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) ATGATGTCATCTTTTCGGATG 0.468 NaN Neonatal_Giant_Cell_Hepatitis 0 0 0 0.01441 0 52 73 CNBD1 168975 broad.mit.edu 37 8 87878760 87878760 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr8:87878760C>G uc003ydy.2 + 1 85 c.37C>G c.(37-39)CAC>GAC p.H13D NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 13 ovary(3) 3 TATTTTGTCTCACATGACAGC 0.443 NaN 0 0 0 0.016723 0 12 13 TP53INP1 94241 broad.mit.edu 37 8 95953097 95953097 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr8:95953097C>G uc003yhg.2 - 2 457 c.73G>C c.(73-75)GAG>CAG p.E25Q C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_Missense_Mutation_p.E25Q NM_033285 NP_150601 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 25 Glu-rich. apoptosis PML body 0 Breast(36;8.75e-07) TCTTCTTTCTCATTGAATTCT 0.398 NaN 0 0 0 0.023175 0 37 57 TG 7038 broad.mit.edu 37 8 134042190 134042190 + Silent SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr8:134042190C>T uc003ytw.2 + 41 7202 c.7161C>T c.(7159-7161)GGC>GGT p.G2387G TG_uc010mdw.2_Silent_p.G1146G|TG_uc011ljb.1_Silent_p.G756G|TG_uc011ljc.1_Silent_p.G520G NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2387 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CAGACCGTGGCGGGGCTGATG 0.647 NaN 0 0 0 0.006214 0 6 50 MAPK15 225689 broad.mit.edu 37 8 144803972 144803972 + Silent SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr8:144803972G>A uc003yzj.2 + 13 1421 c.1380G>A c.(1378-1380)GCG>GCA p.A460A NM_139021 NP_620590 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 460 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding lung(2) 2 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CCCAGGCTGCGGCTCAGGTGG 0.672 NaN 0 0 0 0.016723 0 14 130 ZNF16 7564 broad.mit.edu 37 8 146171568 146171568 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr8:146171568C>T uc003zet.2 - 3 212 c.25G>A c.(25-27)GAG>AAG p.E9K ZNF16_uc003zeu.2_Missense_Mutation_p.E9K NM_001029976 NP_001025147 P17020 ZNF16_HUMAN zinc finger protein 16 9 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) TCTGCCTCCTCACGGCGAGTT 0.592 NaN 0 0 0 0.01441 0 52 57 CNTLN 54875 broad.mit.edu 37 9 17466028 17466028 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr9:17466028C>T uc003zmz.2 + 22 3604 c.3578C>T c.(3577-3579)TCA>TTA p.S1193L CNTLN_uc003zmy.2_Missense_Mutation_p.S1194L|CNTLN_uc010mio.2_Missense_Mutation_p.S873L NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 1194 Potential. centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) TCAATTGATTCACTAAAGCAA 0.299 NaN 0 0 0 0.027356 0 27 6 ZNF658 26149 broad.mit.edu 37 9 40773179 40773179 + Nonsense_Mutation SNP G G C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr9:40773179G>C uc004abs.2 - 5 2248 c.2096C>G c.(2095-2097)TCA>TGA p.S699* ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Nonsense_Mutation_p.S699* NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 699 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TTTGAGGGCTGAATTATGGGC 0.408 NaN 0 0 0 0.007835 0 35 145 GOLGA2 2801 broad.mit.edu 37 9 131019750 131019750 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr9:131019750C>T uc011maw.1 - 25 2705 c.2692G>A c.(2692-2694)GAG>AAG p.E898K GOLGA2_uc010mxw.2_Missense_Mutation_p.E221K|GOLGA2_uc004buh.2_Intron NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 898 Golgi cisterna membrane protein binding ovary(1) 1 CCATGCCACTCGTTGCGGTCG 0.662 NaN 0 0 0 0.01441 0 47 7 SPIN4 139886 broad.mit.edu 37 X 62570437 62570437 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chrX:62570437C>G uc004dvf.2 - 1 782 c.262G>C c.(262-264)GAA>CAA p.E88Q NM_001012968 NP_001012986 Q56A73 SPIN4_HUMAN spindlin family, member 4 88 gamete generation ovary(1)|lung(1) 2 CGGTGCAGTTCTAGTCCATAC 0.488 NaN 0 0 0 0.001984 0 7 18 TAF1 6872 broad.mit.edu 37 X 70621446 70621446 + Silent SNP A A G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chrX:70621446A>G uc004dzu.3 + 25 3903 c.3852A>G c.(3850-3852)CAA>CAG p.Q1284Q BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.Q1305Q|TAF1_uc004dzv.3_Silent_p.Q458Q NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 1284 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) TCTATTATCAAACAAATGCGC 0.438 NaN 0 0 0 0.028581 0 17 60 ITM2A 9452 broad.mit.edu 37 X 78616969 78616969 + Missense_Mutation SNP C C T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chrX:78616969C>T uc004edh.2 - 5 895 c.560G>A c.(559-561)AGA>AAA p.R187K ITM2A_uc011mqr.1_Missense_Mutation_p.R143K NM_004867 NP_004858 O43736 ITM2A_HUMAN integral membrane protein 2A 187 BRICHOS. integral to membrane protein binding lung(2) 2 AGGCAGATATCTGCCACTCTA 0.264 NaN 0 0 0 0.008291 0 11 26 MCTS1 28985 broad.mit.edu 37 X 119739341 119739341 + Missense_Mutation SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chrX:119739341G>A uc004esx.2 + 2 439 c.91G>A c.(91-93)GAG>AAG p.E31K MCTS1_uc011mub.1_Missense_Mutation_p.E32K NM_014060 NP_054779 Q9ULC4 MCTS1_HUMAN malignant T cell amplified sequence 1 isoform 1 31 cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm RNA binding 0 TCAATTGATAGAGCAATTTCC 0.338 NaN 0 0 0 0.01441 0 75 9 F8 2157 broad.mit.edu 37 X 154194885 154194885 + Missense_Mutation SNP C C G TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chrX:154194885C>G uc004fmt.2 - 8 1258 c.1087G>C c.(1087-1089)GAA>CAA p.E363Q NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 363 acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCATAGTCTTCCGCTTCTTCA 0.413 NaN 0 0 0 0.011902 0 44 6 CASZ1 54897 broad.mit.edu 37 1 10714109 10714109 + Frame_Shift_Del DEL G G - TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr1:10714109delG uc001aro.2 - 11 2325 c.2005delC c.(2005-2007)CACfs p.H669fs CASZ1_uc001arp.1_Frame_Shift_Del_p.H669fs|CASZ1_uc009vmx.2_Frame_Shift_Del_p.H693fs NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 669 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CGGATGCAGTGGAAGTGGTTG 0.607 NaN NaN NaN NaN NaN NaN 12 249 --- --- FBXO44 93611 broad.mit.edu 37 1 11721281 11721282 + Frame_Shift_Ins INS - - C TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr1:11721281_11721282insC uc001asm.2 + 6 845_846 c.719_720insC c.(718-720)GGCfs p.G240fs FBXO44_uc001ask.2_Frame_Shift_Ins_p.R198fs|FBXO44_uc001asl.2_Frame_Shift_Ins_p.G240fs|FBXO44_uc001asn.2_Frame_Shift_Ins_p.R198fs|FBXO44_uc010oar.1_Frame_Shift_Ins_p.R230fs|FBXO44_uc010oas.1_Frame_Shift_Ins_p.G100fs|FBXO6_uc001aso.2_5'Flank NM_033182 NP_149438 Q9H4M3 FBX44_HUMAN F-box protein 44 isoform 1 240 FBA. protein catabolic process SCF ubiquitin ligase complex protein binding ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) GGCTGGTACGGCCCGAGGGTCA 0.634 NaN NaN NaN NaN NaN NaN 7 275 --- --- GATA3 2625 broad.mit.edu 37 10 8115929 8115929 + Frame_Shift_Del DEL A A - TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr10:8115929delA uc001ika.2 + 6 1832 c.1275delA c.(1273-1275)CCAfs p.P425fs GATA3_uc001ijz.2_Frame_Shift_Del_p.P426fs NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 425 P -> A (in Ref. 4; AAA35870). aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 TGCACCCGCCATCCAGCCTGT 0.662 NaN F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) NaN NaN NaN NaN NaN 47 106 --- --- SSH3 54961 broad.mit.edu 37 11 67077296 67077312 + Frame_Shift_Del DEL CACAGTGCTGGCCTATG CACAGTGCTGGCCTATG - TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr11:67077296_67077312delCACAGTGCTGGCCTATG uc001okj.2 + 12 1444_1460 c.1266_1282delCACAGTGCTGGCCTATG c.(1264-1284)GCCACAGTGCTGGCCTATGCCfs p.A422fs SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Frame_Shift_Del_p.A276fs NM_017857 NP_060327 Q8TE77 SSH3_HUMAN slingshot homolog 3 422_428 Tyrosine-protein phosphatase. regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GCTCAGCGGCCACAGTGCTGGCCTATGCCATGAAGCA 0.664 NaN NaN NaN NaN NaN NaN 58 247 --- --- SLTM 79811 broad.mit.edu 37 15 59182564 59182565 + Frame_Shift_Del DEL CT CT - TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr15:59182564_59182565delCT uc002afp.2 - 15 2082_2083 c.1994_1995delAG c.(1993-1995)GAGfs p.E665fs SLTM_uc002afn.2_Frame_Shift_Del_p.E207fs|SLTM_uc002afo.2_Frame_Shift_Del_p.E647fs|SLTM_uc002afq.2_Frame_Shift_Del_p.E234fs|SLTM_uc010bgd.2_Frame_Shift_Del_p.E234fs NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 665 Arg/Glu-rich.|Potential. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 TTTCTAGGCGCTCTCTCTCTCT 0.475 NaN NaN NaN NaN NaN NaN 7 202 --- --- NPIP 9284 broad.mit.edu 37 16 15045471 15045471 + Splice_Site DEL G G - TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr16:15045471delG uc002dcy.3 + 8 643 c.643_splice c.e8-1 p.V215_splice NPIP_uc002dcx.3_Splice_Site NM_006985 NP_008916 Q9UND3 NPIP_HUMAN nuclear pore complex interacting protein mRNA transport|protein transport|transmembrane transport nuclear membrane|nuclear pore 0 TGGCCCTACAGGTCAGAATGG 0.483 NaN NaN NaN NaN NaN NaN 17 4 --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr19:38882864_38882866delCCT uc002oim.2 + 3 363_365 c.359_361delCCT c.(358-363)CCCTCC>CCC p.S128del SPRED3_uc002oil.1_In_Frame_Del_p.S128del NM_001042522 NP_001035987 Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 128 Ser-rich. multicellular organismal development central_nervous_system(2)|lung(1)|skin(1) 4 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.537 NaN NaN NaN NaN NaN NaN 7 109 --- --- LILRB3 11025 broad.mit.edu 37 19 54723027 54723029 + In_Frame_Del DEL CGT CGT - rs61734492 byFrequency TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr19:54723027_54723029delCGT uc002qef.1 - 8 1506_1508 c.1395_1397delACG c.(1393-1398)CGACGT>CGT p.465_466RR>R LILRB3_uc002qee.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qeh.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_In_Frame_Del_p.465_466RR>R|LILRA6_uc002qek.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc010erh.1_In_Frame_Del_p.482_483RR>R|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_In_Frame_Del_p.465_466RR>R|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qep.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qeq.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_In_Frame_Del_p.465_466RR>R NM_006864 NP_006855 O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, 465_466 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity skin(2)|ovary(1) 3 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTGACGCTGACGTCggaggagga 0.498 NaN NaN NaN NaN NaN NaN 11 103 --- --- CELSR1 9620 broad.mit.edu 37 22 46790119 46790120 + Frame_Shift_Ins INS - - G rs142032661 by1000genomes TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr22:46790119_46790120insG uc003bhw.1 - 14 5883_5884 c.5883_5884insC c.(5881-5886)CCCGTCfs p.P1961fs CELSR1_uc011arc.1_Frame_Shift_Ins_p.P282fs NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1961_1962 Extracellular (Potential).|EGF-like 7; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GGTCCACAGACGGGGTTCCCCC 0.569 NaN NaN NaN NaN NaN NaN 8 139 --- --- MICALL2 79778 broad.mit.edu 37 7 1474248 1474249 + Frame_Shift_Ins INS - - T TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr7:1474248_1474249insT uc003skj.3 - 17 2845_2846 c.2698_2699insA c.(2698-2700)AGCfs p.S900fs MICALL2_uc003skh.3_Frame_Shift_Ins_p.K107fs|MICALL2_uc003ski.3_Frame_Shift_Ins_p.K385fs NM_182924 NP_891554 Q8IY33 MILK2_HUMAN MICAL-like 2 isoform 1 900 cytoplasm|cytoskeleton zinc ion binding central_nervous_system(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) GGAGGGGCTGCTTTTGCTTTTT 0.639 NaN NaN NaN NaN NaN NaN 7 238 --- --- PSIP1 11168 broad.mit.edu 37 9 15479597 15479609 + Frame_Shift_Del DEL CGTCCTCTTTTAG CGTCCTCTTTTAG - TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chr9:15479597_15479609delCGTCCTCTTTTAG uc003zlv.3 - 7 863_875 c.533_545delCTAAAAGAGGACG c.(532-546)CCTAAAAGAGGACGAfs p.P178fs PSIP1_uc003zlw.3_Frame_Shift_Del_p.P178fs|PSIP1_uc003zlz.3_Frame_Shift_Del_p.P178fs|PSIP1_uc003zma.3_Frame_Shift_Del_p.P169fs|PSIP1_uc003zly.2_Frame_Shift_Del_p.P178fs NM_033222 NP_150091 O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 isoform 2 178_182 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(1) 1 GBM - Glioblastoma multiforme(50;2.38e-06) ACCTGCAGGTCGTCCTCTTTTAGGACTCACTTT 0.362 NaN NaN NaN NaN NaN NaN 10 17 --- --- KDM6A 7403 broad.mit.edu 37 X 44950110 44950110 + Splice_Site DEL G G - TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 G - G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c 709c4655-20e7-46e3-b4c1-920c180abd6f g.chrX:44950110delG uc004dge.3 + 26 4253 c.3878_splice c.e26+1 p.K1293_splice KDM6A_uc011mkz.1_Splice_Site_p.K1345_splice|KDM6A_uc011mla.1_Splice_Site_p.K1248_splice|KDM6A_uc011mlb.1_Splice_Site_p.K1300_splice|KDM6A_uc011mlc.1_Splice_Site_p.K997_splice|KDM6A_uc011mld.1_Splice_Site_p.K932_splice NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 AAATGATTAAGTAAGTCTTTT 0.348 NaN D|N|F|S renal|oesophageal SCC|MM NaN NaN NaN NaN NaN 39 5 --- ---