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 SLC2A7 155184 broad.mit.edu 37 1 9082993 9082993 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr1:9082993C>T uc009vmo.1 - 3 295 c.295G>A c.(295-297)GTT>ATT p.V99I NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN intestinal facilitative glucose transporter 7 99 Helical; (Potential). integral to membrane|plasma membrane sugar transmembrane transporter activity 0 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) CAGCTATCAACCAGCAGGCCC 0.512000 DFFA 1676 broad.mit.edu 37 1 10527274 10527274 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr1:10527274G>A uc001arj.2 - 3 512 c.414C>T c.(412-414)ATC>ATT p.I138I DFFA_uc001ark.2_Silent_p.I138I NM_004401 NP_004392 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha 138 DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding 0 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) ATAGGAGGATGATGCTGGACA 0.537000 PRAMEF12 390999 broad.mit.edu 37 1 12837237 12837237 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr1:12837237C>T uc001aui.2 + 3 974 c.947C>T c.(946-948)CCG>CTG p.P316L NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 316 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCTTGGTGCCCGAGCATCCGT 0.567000 AIM1L 55057 broad.mit.edu 37 1 26655305 26655305 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr1:26655305G>A uc001bmd.3 - 15 1669 c.1239C>T c.(1237-1239)ATC>ATT p.I413I NM_001039775 NP_001034864 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 413 Beta/gamma crystallin 'Greek key' 9. sugar binding pancreas(1) 1 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) TGCTGAGCTCGATCTCCTTCC 0.597000 CELSR2 1952 broad.mit.edu 37 1 109793708 109793708 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr1:109793708C>T uc001dxa.3 + 1 1068 c.1007C>T c.(1006-1008)CCC>CTC p.P336L NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 336 Cadherin 2.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GGGGGCAGCCCCTCTGAAGTC 0.607000 TRIM33 51592 broad.mit.edu 37 1 114940396 114940396 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr1:114940396G>A uc001eew.2 - 20 3342 c.3258C>T c.(3256-3258)TTC>TTT p.F1086F TRIM33_uc010owr.1_Silent_p.F700F|TRIM33_uc010ows.1_Silent_p.F718F|TRIM33_uc001eex.2_Silent_p.F1069F NM_015906 NP_056990 Q9UPN9 TRI33_HUMAN tripartite motif-containing 33 protein isoform 1086 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 11 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GCAAAGGTGCGAAGGTCCTGT 0.468000 T RET papillary thyroid CD1E 913 broad.mit.edu 37 1 158325888 158325888 + Missense_Mutation SNP C C G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr1:158325888C>G uc001fse.2 + 4 1136 c.897C>G c.(895-897)ATC>ATG p.I299M CD1E_uc010pid.1_Missense_Mutation_p.I297M|CD1E_uc010pie.1_Missense_Mutation_p.I200M|CD1E_uc010pif.1_Missense_Mutation_p.I110M|CD1E_uc001fsd.2_Intron|CD1E_uc001fsk.2_Missense_Mutation_p.I209M|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Missense_Mutation_p.I110M|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.I299M|CD1E_uc001fry.2_Intron|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Missense_Mutation_p.I110M|CD1E_uc001fsi.2_Intron|CD1E_uc009wsv.2_Missense_Mutation_p.I200M|CD1E_uc001frz.2_Missense_Mutation_p.I209M|CD1E_uc009wsw.2_Missense_Mutation_p.I57M NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 299 Ig-like. antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) ATCTAATCATCCATTGGGGTG 0.547000 TNFSF4 7292 broad.mit.edu 37 1 173157667 173157667 + Silent SNP T T C TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr1:173157667T>C uc001giw.2 - 2 351 c.195A>G c.(193-195)CAA>CAG p.Q65Q TNFSF4_uc001giv.2_Silent_p.Q15Q NM_003326 NP_003317 P23510 TNFL4_HUMAN tumor necrosis factor (ligand) superfamily, 65 Extracellular (Potential). acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation cell surface|extracellular space|integral to plasma membrane cytokine activity central_nervous_system(1) 1 TACCGGTAAATTGTACTTTGA 0.318000 CHI3L1 1116 broad.mit.edu 37 1 203152776 203152776 + Missense_Mutation SNP A A G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr1:203152776A>G uc001gzi.2 - 5 629 c.458T>C c.(457-459)CTA>CCA p.L153P FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_5'Flank|CHI3L1_uc001gzj.2_Missense_Mutation_p.L153P NM_001276 NP_001267 P36222 CH3L1_HUMAN chitinase 3-like 1 precursor 153 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding pancreas(1) 1 CACCTTGATTAGGGTGGTAAA 0.587000 NFASC 23114 broad.mit.edu 37 1 204966334 204966334 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr1:204966334C>T uc001hbj.2 + 25 3147 c.2819C>T c.(2818-2820)ACG>ATG p.T940M NFASC_uc010pra.1_Intron|NFASC_uc001hbi.2_Intron|NFASC_uc010prb.1_Intron|NFASC_uc010prc.1_Intron|NFASC_uc001hbl.1_Intron|NFASC_uc001hbm.1_Intron|NFASC_uc001hbn.1_Missense_Mutation_p.T86M|NFASC_uc009xbh.1_Translation_Start_Site NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 997 Extracellular (Potential).|Fibronectin type-III 4. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GTGGGTGCGACGGGCGCTGTG 0.557000 MARK1 4139 broad.mit.edu 37 1 220824034 220824034 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr1:220824034G>A uc001hmn.3 + 14 2140 c.1543G>A c.(1543-1545)GTA>ATA p.V515I MARK1_uc009xdw.2_Missense_Mutation_p.V515I|MARK1_uc010pun.1_Missense_Mutation_p.V515I|MARK1_uc001hmm.3_Missense_Mutation_p.V493I NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 515 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) AGATCGATACGTAGCATTGCA 0.408000 KIAA1383 54627 broad.mit.edu 37 1 232942122 232942122 + Missense_Mutation SNP G G T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr1:232942122G>T uc001hvh.2 + 1 1485 c.1353G>T c.(1351-1353)TTG>TTT p.L451F NM_019090 NP_061963 Q9P2G4 K1383_HUMAN hypothetical protein LOC54627 309 ovary(1) 1 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) ACACTAACTTGACCCAAGAAA 0.443000 NID1 4811 broad.mit.edu 37 1 236142365 236142365 + Silent SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr1:236142365C>T uc001hxo.2 - 19 3654 c.3552G>A c.(3550-3552)ACG>ACA p.T1184T NID1_uc009xgd.2_Silent_p.T1051T|NID1_uc009xgc.2_Silent_p.T265T NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 1184 cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GGAAAGCATCCGTCTCCTTGG 0.507000 FMN2 56776 broad.mit.edu 37 1 240256644 240256644 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr1:240256644C>T uc010pyd.1 + 1 1460 c.1235C>T c.(1234-1236)CCG>CTG p.P412L FMN2_uc010pye.1_Missense_Mutation_p.P412L NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 412 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AAGCCCTACCCGCTCATCACC 0.677000 OR2L13 284521 broad.mit.edu 37 1 248263077 248263077 + Missense_Mutation SNP C C T rs147060080 TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr1:248263077C>T uc001ids.2 + 3 737 c.400C>T c.(400-402)CGC>TGC p.R134C NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 134 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TTATCCTATCCGCATGAGTAA 0.488000 CNNM1 26507 broad.mit.edu 37 10 101124191 101124191 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr10:101124191G>A uc001kpp.3 + 5 2335 c.2046G>A c.(2044-2046)GAG>GAA p.E682E CNNM1_uc009xwe.2_Silent_p.E682E|CNNM1_uc010qpi.1_Silent_p.E682E|CNNM1_uc009xwf.2_Silent_p.E682E|CNNM1_uc009xwg.2_Silent_p.E82E NM_020348 NP_065081 Q9NRU3 CNNM1_HUMAN cyclin M1 682 ion transport integral to membrane|plasma membrane 0 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) TGGAGGTGGAGGTTGGTAAGG 0.423000 DENND5A 23258 broad.mit.edu 37 11 9192306 9192306 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr11:9192306C>T uc001mhl.2 - 9 2180 c.1925G>A c.(1924-1926)CGT>CAT p.R642H DENND5A_uc001mhk.2_5'UTR|DENND5A_uc010rbw.1_Missense_Mutation_p.R642H|DENND5A_uc010rbx.1_RNA NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 642 liver(1) 1 TTTTGCCAGACGCAGCTCAAT 0.318000 DSCAML1 57453 broad.mit.edu 37 11 117307909 117307909 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr11:117307909C>T uc001prh.1 - 26 4831 c.4829G>A c.(4828-4830)CGC>CAC p.R1610H NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1550 Extracellular (Potential).|Fibronectin type-III 6. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGCCCTCATGCGCAGCTCGTA 0.647000 PDE3A 5139 broad.mit.edu 37 12 20769164 20769164 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr12:20769164C>T uc001reh.1 + 4 1292 c.1270C>T c.(1270-1272)CGC>TGC p.R424C NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 424 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TCTTTCCTAGCGCCTGAGAAG 0.428000 LRRK2 120892 broad.mit.edu 37 12 40697868 40697868 + Missense_Mutation SNP T T G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr12:40697868T>G uc001rmg.3 + 27 3830 c.3709T>G c.(3709-3711)TTG>GTG p.L1237V LRRK2_uc001rmh.1_Missense_Mutation_p.L859V|LRRK2_uc009zjw.2_Missense_Mutation_p.L75V|LRRK2_uc001rmi.2_Missense_Mutation_p.L70V NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1237 LRR 10. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CATCTTGGACTTGAGTGAAAA 0.373000 ZBTB39 9880 broad.mit.edu 37 12 57398420 57398420 + Silent SNP T T C TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr12:57398420T>C uc001sml.1 - 2 368 c.282A>G c.(280-282)ACA>ACG p.T94T RDH16_uc010sqx.1_5'Flank NM_014830 NP_055645 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 94 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 TGATCAGGTCTGTGAAGAGTT 0.517000 CAND1 55832 broad.mit.edu 37 12 67699937 67699937 + Missense_Mutation SNP C C G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr12:67699937C>G uc001stn.2 + 10 2926 c.2489C>G c.(2488-2490)TCT>TGT p.S830C CAND1_uc001sto.2_Missense_Mutation_p.S340C NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 830 HEAT 19. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) AACTCAAGGTCTACAGATTCC 0.413000 NT5DC3 51559 broad.mit.edu 37 12 104192371 104192371 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr12:104192371G>A uc010swe.1 - 5 650 c.609C>T c.(607-609)TAC>TAT p.Y203Y NM_001031701 NP_001026871 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 203 hydrolase activity|metal ion binding ovary(2)|skin(1) 3 TTACCTTTCCGTAAAAGTCAC 0.438000 RIC8B 55188 broad.mit.edu 37 12 107209073 107209073 + Silent SNP G G T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr12:107209073G>T uc001tlx.2 + 3 857 c.732G>T c.(730-732)GTG>GTT p.V244V RIC8B_uc001tlw.2_Silent_p.V244V|RIC8B_uc001tly.2_Silent_p.V204V|RIC8B_uc001tlz.2_RNA NM_018157 NP_060627 Q9NVN3 RIC8B_HUMAN resistance to inhibitors of cholinesterase 8 244 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity ovary(1) 1 GTTGGAAGGTGCATAAAGAGG 0.423000 PRDM4 11108 broad.mit.edu 37 12 108134886 108134886 + Missense_Mutation SNP T T G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr12:108134886T>G uc001tmp.2 - 10 2198 c.1761A>C c.(1759-1761)GAA>GAC p.E587D PRDM4_uc010sww.1_5'UTR|PRDM4_uc001tmq.2_RNA NM_012406 NP_036538 Q9UKN5 PRDM4_HUMAN PR domain containing 4 587 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 TCCACTTCCTTTCTTTGCTGT 0.493000 SBNO1 55206 broad.mit.edu 37 12 123829886 123829886 + Missense_Mutation SNP G G C TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr12:123829886G>C uc010tap.1 - 3 469 c.469C>G c.(469-471)CTA>GTA p.L157V SBNO1_uc010tao.1_Missense_Mutation_p.L156V|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.L157V|SBNO1_uc001ueu.2_Missense_Mutation_p.L156V|SBNO1_uc001uev.2_Missense_Mutation_p.L155V|SBNO1_uc009zxy.1_Missense_Mutation_p.L122V NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 157 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TTTTTCAGTAGATCTTTAAGC 0.423000 ALOX5AP 241 broad.mit.edu 37 13 31326239 31326239 + Missense_Mutation SNP C C T rs148308449 TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr13:31326239C>T uc001utf.1 + 3 295 c.221C>T c.(220-222)GCG>GTG p.A74V ALOX5AP_uc010tdr.1_Missense_Mutation_p.A131V NM_001629 NP_001620 P20292 AL5AP_HUMAN arachidonate 5-lipoxygenase-activating protein 74 Helical. cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane arachidonic acid binding|protein N-terminus binding 0 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864) CTCTGGTCTGCGGGGCTACTT 0.463000 KBTBD6 89890 broad.mit.edu 37 13 41705946 41705946 + Missense_Mutation SNP C C G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr13:41705946C>G uc001uxu.1 - 1 991 c.702G>C c.(700-702)GAG>GAC p.E234D KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.E168D|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 234 protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) TCTGCTCACTCTCCACGTCCA 0.597000 EDNRB 1910 broad.mit.edu 37 13 78492238 78492238 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr13:78492238G>A uc001vko.2 - 1 729 c.471C>T c.(469-471)ATC>ATT p.I157I uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Silent_p.I157I|EDNRB_uc010aez.1_Silent_p.I157I|EDNRB_uc001vkp.1_Silent_p.I240I|EDNRB_uc010afa.1_Silent_p.I157I NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 157 Helical; Name=2; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) TGTAGACATTGATAGGGATGT 0.512000 TPP2 7174 broad.mit.edu 37 13 103295620 103295620 + Missense_Mutation SNP T T G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr13:103295620T>G uc001vpi.3 + 17 2172 c.2069T>G c.(2068-2070)CTA>CGA p.L690R NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 690 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AAGTTTGTTCTACATGCAGTC 0.373000 KIAA1409 57578 broad.mit.edu 37 14 94053116 94053116 + Missense_Mutation SNP A A C TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr14:94053116A>C uc001ybv.1 + 19 2446 c.2363A>C c.(2362-2364)AAG>ACG p.K788T KIAA1409_uc001ybs.1_Missense_Mutation_p.K788T NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 965 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GAAATGGCTAAGTTTGAAGAG 0.358000 FANCI 55215 broad.mit.edu 37 15 89837116 89837116 + Missense_Mutation SNP T T G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr15:89837116T>G uc010bnp.1 + 23 2434 c.2344T>G c.(2344-2346)TCT>GCT p.S782A FANCI_uc002bnm.1_Missense_Mutation_p.S782A|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.S603A|FANCI_uc002bnq.1_Missense_Mutation_p.S195A NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 782 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) CAAAAAACTCTCTGACATTCT 0.348000 Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia WDR90 197335 broad.mit.edu 37 16 701703 701703 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr16:701703C>T uc002cii.1 + 8 850 c.796C>T c.(796-798)CGG>TGG p.R266W WDR90_uc002cig.1_Missense_Mutation_p.R266W|WDR90_uc002cih.1_Missense_Mutation_p.R266W|WDR90_uc002cij.1_RNA NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 266 ovary(1) 1 Hepatocellular(780;0.0218) CAAACCTGTGCGGTTCAGTGT 0.652000 ATP2A1 487 broad.mit.edu 37 16 28909608 28909608 + Silent SNP C C A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr16:28909608C>A uc002dro.1 + 14 1784 c.1600C>A c.(1600-1602)CGG>AGG p.R534R uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.R534R|ATP2A1_uc002drp.1_Silent_p.R409R NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 534 Cytoplasmic (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TGGCACCACCCGGGTGCCACT 0.632000 PHKG2 5261 broad.mit.edu 37 16 30768315 30768315 + Missense_Mutation SNP T T C TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr16:30768315T>C uc002dzk.1 + 10 1211 c.1118T>C c.(1117-1119)CTC>CCC p.L373P PHKG2_uc002dzi.1_Missense_Mutation_p.L377P|PHKG2_uc002dzj.1_Missense_Mutation_p.L271P NM_000294 NP_000285 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 373 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1) 1 Colorectal(24;0.198) CGGGCGGCTCTCTTTCAGCAC 0.617000 CDH1 999 broad.mit.edu 37 16 68845623 68845623 + Missense_Mutation SNP A A G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr16:68845623A>G uc002ewg.1 + 7 993 c.869A>G c.(868-870)GAC>GGC p.D290G CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.D290G NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 290 Cadherin 2.|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 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) ACAGACGCGGACGATGATGTG 0.493000 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer INCA1 388324 broad.mit.edu 37 17 4891775 4891775 + Silent SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr17:4891775C>T uc002gaj.2 - 8 1088 c.636G>A c.(634-636)TCG>TCA p.S212S CAMTA2_uc010cku.1_5'Flank|CAMTA2_uc002gag.1_5'Flank|CAMTA2_uc002gah.1_5'Flank|CAMTA2_uc002gai.1_5'Flank|CAMTA2_uc010vsu.1_5'Flank|INCA1_uc002gak.2_Silent_p.S212S|INCA1_uc002gal.2_Silent_p.S197S|INCA1_uc002gam.2_Silent_p.S197S NM_213726 NP_998891 Q0VD86 INCA1_HUMAN inhibitor of CDK, cyclin A1 interacting protein 212 nucleus 0 CAGTGCTGAACGAGGCCAGAG 0.567000 TP53 7157 broad.mit.edu 37 17 7578407 7578407 + Missense_Mutation SNP G G C rs138729528 TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr17:7578407G>C uc002gim.2 - 5 717 c.523C>G c.(523-525)CGC>GGC p.R175G TP53_uc002gig.1_Missense_Mutation_p.R175G|TP53_uc002gih.2_Missense_Mutation_p.R175G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43G|TP53_uc010cng.1_Missense_Mutation_p.R43G|TP53_uc002gii.1_Missense_Mutation_p.R43G|TP53_uc010cnh.1_Missense_Mutation_p.R175G|TP53_uc010cni.1_Missense_Mutation_p.R175G|TP53_uc002gij.2_Missense_Mutation_p.R175G|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82G|TP53_uc002gio.2_Missense_Mutation_p.R43G|TP53_uc010vug.1_Missense_Mutation_p.R136G NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(721)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGGGGGCAGCGCCTCACAACC 0.657000 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) MFSD6L 162387 broad.mit.edu 37 17 8701689 8701689 + Missense_Mutation SNP C C G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr17:8701689C>G uc002glp.1 - 1 898 c.750G>C c.(748-750)TTG>TTC p.L250F NM_152599 NP_689812 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 250 Helical; (Potential). integral to membrane central_nervous_system(1) 1 CCACGGACCCCAAGGAGAGGA 0.577000 MYH13 8735 broad.mit.edu 37 17 10219280 10219280 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr17:10219280G>A uc002gmk.1 - 28 3891 c.3801C>T c.(3799-3801)GAC>GAT p.D1267D NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1267 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TCTGTTGCTCGTCCTTGGCTT 0.463000 ZNF286A 57335 broad.mit.edu 37 17 15604534 15604534 + Missense_Mutation SNP C C T rs145330416 byFrequency TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr17:15604534C>T uc010cot.2 + 3 502 c.106C>T c.(106-108)CGC>TGC p.R36C ZNF286A_uc002goz.3_5'UTR|ZNF286A_uc010vwa.1_Missense_Mutation_p.R36C|ZNF286A_uc002gpa.2_Missense_Mutation_p.R36C NM_001130842 NP_001124314 Q9HBT8 Z286A_HUMAN zinc finger protein 286 36 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) GGCTGCTCTGCGCCTCACGGC 0.483000 UTP6 55813 broad.mit.edu 37 17 30190407 30190407 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr17:30190407G>A uc002hgr.2 - 19 1848 c.1765C>T c.(1765-1767)CAT>TAT p.H589Y UTP6_uc002hgq.2_Missense_Mutation_p.H405Y|UTP6_uc010cst.2_Missense_Mutation_p.H438Y NM_018428 NP_060898 Q9NYH9 UTP6_HUMAN hepatocellular carcinoma-associated antigen 66 589 rRNA processing nucleolus binding ovary(1) 1 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) TGCATAGCATGTTTAGCTACA 0.453000 ACCN1 40 broad.mit.edu 37 17 32483077 32483077 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr17:32483077G>A uc002hhu.2 - 1 749 c.475C>T c.(475-477)CGT>TGT p.R159C NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 159 Extracellular (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) TGGCCCACACGGTGCAGGAAC 0.567000 CDC6 990 broad.mit.edu 37 17 38447833 38447833 + Nonsense_Mutation SNP T T A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr17:38447833T>A uc002huj.1 + 4 783 c.573T>A c.(571-573)TGT>TGA p.C191* NM_001254 NP_001245 Q99741 CDC6_HUMAN cell division cycle 6 protein 191 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 AACACATCTGTGGGAAAAAAG 0.502000 ANKRD40 91369 broad.mit.edu 37 17 48776919 48776919 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr17:48776919G>A uc002iso.2 - 3 874 c.619C>T c.(619-621)CCT>TCT p.P207S NM_052855 NP_443087 Q6AI12 ANR40_HUMAN ankyrin repeat domain 40 207 Pro-rich. 0 BRCA - Breast invasive adenocarcinoma(22;2.03e-09) TGACAAACAGGACCCGGTTTT 0.552000 BPTF 2186 broad.mit.edu 37 17 65919031 65919031 + Missense_Mutation SNP C C A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr17:65919031C>A uc002jgf.2 + 14 5694 c.5633C>A c.(5632-5634)ACT>AAT p.T1878N BPTF_uc002jge.2_Missense_Mutation_p.T2004N NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2004 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CCCAAGCAAACTGGCCCTGTT 0.463000 SSTR2 6752 broad.mit.edu 37 17 71166520 71166520 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr17:71166520G>A uc002jje.2 + 2 1422 c.1062G>A c.(1060-1062)ACG>ACA p.T354T NM_001050 NP_001041 P30874 SSR2_HUMAN somatostatin receptor 2 354 Cytoplasmic (Potential). digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity 0 LUSC - Lung squamous cell carcinoma(166;0.197) ATGAGACCACGGAGACCCAGA 0.552000 LAMA1 284217 broad.mit.edu 37 18 7080074 7080074 + Missense_Mutation SNP A A T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr18:7080074A>T uc002knm.2 - 3 339 c.245T>A c.(244-246)ATA>AAA p.I82K LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 82 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCATGTGATATTGGATGGCG 0.398000 KIAA1012 22878 broad.mit.edu 37 18 29435730 29435730 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr18:29435730G>A uc002kxc.3 - 21 3593 c.3229C>T c.(3229-3231)CGG>TGG p.R1077W KIAA1012_uc002kxb.3_Missense_Mutation_p.R1023W|KIAA1012_uc002kxd.3_RNA NM_014939 NP_055754 Q9Y2L5 TPPC8_HUMAN hypothetical protein LOC22878 1077 ER to Golgi vesicle-mediated transport cis-Golgi network 0 TTTAAAGACCGACTGGTACAA 0.353000 ZNF236 7776 broad.mit.edu 37 18 74607109 74607109 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr18:74607109G>A uc002lmi.2 + 10 1750 c.1552G>A c.(1552-1554)GCC>ACC p.A518T ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 518 C2H2-type 11. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GTGCTTCCGCGCCTTCGCCGT 0.617000 ATP9B 374868 broad.mit.edu 37 18 76936846 76936846 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr18:76936846G>A uc002lmx.2 + 8 826 c.812G>A c.(811-813)GGT>GAT p.G271D ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Missense_Mutation_p.G271D|ATP9B_uc002lmy.1_Intron|ATP9B_uc002lmz.1_Translation_Start_Site NM_198531 NP_940933 O43861 ATP9B_HUMAN ATPase, class II, type 9B 271 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3) 3 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) CAACTAGATGGTGAAACTGAC 0.453000 ZNF557 79230 broad.mit.edu 37 19 7081985 7081985 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr19:7081985G>A uc002mgb.2 + 7 812 c.327G>A c.(325-327)GTG>GTA p.V109V ZNF557_uc002mga.2_Silent_p.V116V|ZNF557_uc002mgc.2_Silent_p.V116V NM_001044388 NP_001037853 Q8N988 ZN557_HUMAN zinc finger protein 557 isoform b 109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung(535;0.179) TTTCAGATGTGGAGAATCCAT 0.328000 ZNF317 57693 broad.mit.edu 37 19 9271728 9271728 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr19:9271728G>A uc002mku.2 + 7 1682 c.1407G>A c.(1405-1407)ACG>ACA p.T469T ZNF317_uc002mkv.2_Silent_p.T328T|ZNF317_uc002mkw.2_Silent_p.T437T|ZNF317_uc002mkx.2_Silent_p.T384T|ZNF317_uc002mky.2_Silent_p.T352T NM_020933 NP_065984 Q96PQ6 ZN317_HUMAN zinc finger protein 317 469 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGATACACACGCAAGAGAGAC 0.532000 SLC1A6 6511 broad.mit.edu 37 19 15063868 15063868 + Silent SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr19:15063868C>T uc002naa.1 - 8 1379 c.1371G>A c.(1369-1371)ACG>ACA p.T457T SLC1A6_uc010dzu.1_Silent_p.T379T|SLC1A6_uc010xod.1_Silent_p.T393T NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 457 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) CTGCTGTGGCCGTGATGCTGC 0.363000 ZNF599 148103 broad.mit.edu 37 19 35251150 35251150 + Missense_Mutation SNP G G T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr19:35251150G>T uc010edn.1 - 4 944 c.556C>A c.(556-558)CCA>ACA p.P186T ZNF599_uc010edm.1_Missense_Mutation_p.P149T NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN zinc finger protein 599 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TCTTTTCCTGGTCCTTGAGAG 0.473000 HIPK4 147746 broad.mit.edu 37 19 40886895 40886895 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr19:40886895G>A uc002onp.2 - 3 1288 c.1003C>T c.(1003-1005)CGC>TGC p.R335C NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 335 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) GGGCTGATGCGTTCGTGTGAC 0.652000 SCAF1 58506 broad.mit.edu 37 19 50149863 50149863 + Silent SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr19:50149863C>T uc002poq.2 + 5 466 c.342C>T c.(340-342)CGC>CGT p.R114R NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 114 mRNA processing|RNA splicing nucleus RNA binding 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TTCCCAGCCGCCTGGACCTGC 0.667000 ZNF578 147660 broad.mit.edu 37 19 53014862 53014862 + Missense_Mutation SNP C C A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr19:53014862C>A uc002pzp.3 + 6 1472 c.1228C>A c.(1228-1230)CAA>AAA p.Q410K NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 185 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) GGCTTTTAATCAACAATCACA 0.383000 ZNF600 162966 broad.mit.edu 37 19 53268973 53268973 + Nonsense_Mutation SNP G G C TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr19:53268973G>C uc002qab.3 - 3 2322 c.2036C>G c.(2035-2037)TCA>TGA p.S679* NM_198457 NP_940859 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 679 C2H2-type 19. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) TTTCAGGTGTGAATCACTCCC 0.398000 ZNF582 147948 broad.mit.edu 37 19 56901826 56901826 + Missense_Mutation SNP T T G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr19:56901826T>G uc002qmz.1 - 3 213 c.54A>C c.(52-54)GAA>GAC p.E18D ZNF582_uc002qmy.2_Missense_Mutation_p.E49D NM_144690 NP_653291 Q96NG8 ZN582_HUMAN zinc finger protein 582 18 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|large_intestine(1) 4 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) ACTGCCATTCTTCTTGGGAGA 0.478000 ZNF416 55659 broad.mit.edu 37 19 58083815 58083815 + Missense_Mutation SNP C C A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr19:58083815C>A uc002qpf.2 - 4 1628 c.1457G>T c.(1456-1458)AGA>ATA p.R486I ZNF547_uc002qpm.3_Intron NM_017879 NP_060349 Q9BWM5 ZN416_HUMAN zinc finger protein 416 486 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) AGTGTGAGTTCTCTGGTGCCT 0.403000 ZNF417 147687 broad.mit.edu 37 19 58420743 58420743 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr19:58420743G>A uc002qqq.2 - 3 1102 c.903C>T c.(901-903)TGC>TGT p.C301C ZNF417_uc010yhm.1_Silent_p.C258C|ZNF417_uc002qqr.2_Silent_p.C300C NM_152475 NP_689688 Q8TAU3 ZN417_HUMAN zinc finger protein 417 301 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) AAGATTTCCCGCACTCCTCAC 0.453000 PLEK 5341 broad.mit.edu 37 2 68613709 68613709 + Missense_Mutation SNP C C T rs148824923 TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr2:68613709C>T uc002sen.3 + 5 710 c.548C>T c.(547-549)TCG>TTG p.S183L PLEK_uc010fde.2_Missense_Mutation_p.S183L NM_002664 NP_002655 P08567 PLEK_HUMAN pleckstrin 183 DEP. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding ovary(1) 1 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) ATTGCTTCATCGCTGCTCAAT 0.527000 ZEB2 9839 broad.mit.edu 37 2 145274864 145274864 + Silent SNP G G T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr2:145274864G>T uc002tvu.2 - 2 534 c.54C>A c.(52-54)GCC>GCA p.A18A ZEB2_uc002tvv.2_Silent_p.A13A|ZEB2_uc010zbm.1_Silent_p.A13A|ZEB2_uc010fnp.2_Silent_p.A13A|ZEB2_uc010fnq.1_Silent_p.A47A|ZEB2_uc002tvw.2_Silent_p.A13A|ZEB2_uc002tvx.1_RNA|ZEB2_uc002tvy.2_Silent_p.A47A|ZEB2_uc002tvz.2_RNA|ZEB2_uc002twa.2_RNA NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 18 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) TCCTGGGATTGGCTTGTTTGC 0.592000 ABCB11 8647 broad.mit.edu 37 2 169791908 169791908 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr2:169791908G>A uc002ueo.1 - 23 2968 c.2842C>T c.(2842-2844)CGC>TGC p.R948C ABCB11_uc010zda.1_Missense_Mutation_p.R390C|ABCB11_uc010zdb.1_Missense_Mutation_p.R424C NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 948 Cytoplasmic (Potential).|ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) GCAACAGTGCGGATGTTACTG 0.438000 SPAG16 79582 broad.mit.edu 37 2 214727351 214727351 + Missense_Mutation SNP A A G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr2:214727351A>G uc002veq.2 + 11 1305 c.1213A>G c.(1213-1215)AGT>GGT p.S405G SPAG16_uc010fuz.1_Missense_Mutation_p.S256G|SPAG16_uc002ver.2_Missense_Mutation_p.S351G|SPAG16_uc010zjk.1_Missense_Mutation_p.S311G NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 405 WD 2. cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) CTTCCATCCCAGGTCAGTGCA 0.498000 CXCR1 3577 broad.mit.edu 37 2 219029327 219029327 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr2:219029327C>T uc002vhc.2 - 2 727 c.608G>A c.(607-609)CGG>CAG p.R203Q NM_000634 NP_000625 P25024 CXCR1_HUMAN interleukin 8 receptor alpha 203 Helical; Name=5; (Potential). dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity lung(2) 2 AGGCAGGATCCGCAACACCAT 0.522000 COL4A4 1286 broad.mit.edu 37 2 227875130 227875130 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr2:227875130G>A uc010zlt.1 - 45 5075 c.4421C>T c.(4420-4422)ACG>ATG p.T1474M NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1474 Collagen IV NC1. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CTCCTGGTCCGTCTGACTGTG 0.587000 HDLBP 3069 broad.mit.edu 37 2 242196205 242196205 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr2:242196205G>A uc002waz.2 - 6 695 c.467C>T c.(466-468)GCC>GTC p.A156V HDLBP_uc002wba.2_Missense_Mutation_p.A156V|HDLBP_uc002wbb.2_Missense_Mutation_p.A177V|HDLBP_uc010fzn.1_5'UTR NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 156 cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) TTTGGGAATGGCAACAGTTGC 0.378000 TASP1 55617 broad.mit.edu 37 20 13415717 13415717 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr20:13415717G>A uc002woi.2 - 12 1187 c.1070C>T c.(1069-1071)TCC>TTC p.S357F TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Missense_Mutation_p.S334F NM_017714 NP_060184 Q9H6P5 TASP1_HUMAN taspase 1 precursor 357 S -> F (in Ref. 1; BAA91018). asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity 0 ATTTTGGGAGGAGTCAGGCTC 0.423000 DNMT3B 1789 broad.mit.edu 37 20 31394056 31394056 + Silent SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr20:31394056C>T uc002wyc.2 + 22 2664 c.2343C>T c.(2341-2343)ATC>ATT p.I781I DNMT3B_uc002wyd.2_Silent_p.I761I|DNMT3B_uc002wye.2_Intron|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_Intron|DNMT3B_uc010ztz.1_Intron|DNMT3B_uc010zua.1_Intron|DNMT3B_uc002wyf.2_Silent_p.I773I|DNMT3B_uc002wyg.2_Intron|DNMT3B_uc010geg.2_Intron|DNMT3B_uc010geh.2_RNA NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 781 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 CGAACTCGATCAAACAGGGGA 0.453000 C20orf152 140894 broad.mit.edu 37 20 34563887 34563887 + Missense_Mutation SNP G G A rs138922540 TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr20:34563887G>A uc002xes.1 + 3 362 c.206G>A c.(205-207)CGA>CAA p.R69Q C20orf152_uc002xer.1_Missense_Mutation_p.R69Q|C20orf152_uc010gfp.1_RNA Q96M20 CT152_HUMAN SubName: Full=C20orf152 protein; 69 0 Breast(12;0.00631) ATGCAAAGCCGAGTCACATTT 0.448000 CTCFL 140690 broad.mit.edu 37 20 56098150 56098150 + Missense_Mutation SNP G G C rs139237396 byFrequency TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr20:56098150G>C uc010gix.1 - 2 1390 c.728C>G c.(727-729)TCT>TGT p.S243C CTCFL_uc010giw.1_Missense_Mutation_p.S243C|CTCFL_uc002xym.2_Missense_Mutation_p.S243C|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.S243C|CTCFL_uc010gjb.1_Missense_Mutation_p.S243C|CTCFL_uc010gjc.1_Missense_Mutation_p.S243C|CTCFL_uc010gjd.1_Missense_Mutation_p.S243C|CTCFL_uc010gje.2_Missense_Mutation_p.S243C|CTCFL_uc010gjf.2_Missense_Mutation_p.S38C|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.S243C|CTCFL_uc010gji.1_Missense_Mutation_p.S38C|CTCFL_uc010gjj.1_Missense_Mutation_p.S243C|CTCFL_uc010gjk.1_Missense_Mutation_p.S243C|CTCFL_uc010gjl.1_Missense_Mutation_p.S243C NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 243 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) ATTTTTTGTAGATTTGGCCTT 0.403000 RASD2 23551 broad.mit.edu 37 22 35947662 35947662 + Missense_Mutation SNP G G T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr22:35947662G>T uc003anx.2 + 3 589 c.384G>T c.(382-384)AAG>AAT p.K128N RASD2_uc003any.2_Missense_Mutation_p.K128N NM_014310 NP_055125 Q96D21 RHES_HUMAN RASD family, member 2 precursor 128 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity lung(2)|skin(1) 3 ACAAGACCAAGGAGGCGGCGG 0.617000 SETD2 29072 broad.mit.edu 37 3 47155459 47155459 + Missense_Mutation SNP T T C TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr3:47155459T>C uc003cqs.2 - 5 4675 c.4622A>G c.(4621-4623)AAT>AGT p.N1541S SETD2_uc003cqv.2_Missense_Mutation_p.N1530S NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1541 AWS. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AAACCGTCTATTGGAACAATA 0.398000 N|F|S|Mis clear cell renal carcinoma LAMB2 3913 broad.mit.edu 37 3 49167420 49167420 + Silent SNP G G A rs146643686 TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr3:49167420G>A uc003cwe.2 - 10 1556 c.1257C>T c.(1255-1257)GAC>GAT p.D419D LAMB2_uc003cwf.1_Silent_p.D419D NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 419 Laminin EGF-like 3. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGCGACCACCGTCTTGAGAAC 0.562000 PARP3 10039 broad.mit.edu 37 3 51979157 51979157 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr3:51979157G>A uc003dby.2 + 6 1149 c.778G>A c.(778-780)GTC>ATC p.V260I PARP3_uc003dbz.2_Missense_Mutation_p.V267I NM_005485 NP_005476 Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 260 PARP alpha-helical. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CTTTTACACCGTCATCCCGCA 0.637000 PPARGC1A 10891 broad.mit.edu 37 4 23815403 23815403 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr4:23815403C>T uc003gqs.2 - 8 1823 c.1703G>A c.(1702-1704)CGT>CAT p.R568H PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 568 Arg/Ser-rich. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) GGACCTTGAACGAGAGCGCAT 0.453000 CORIN 10699 broad.mit.edu 37 4 47746513 47746513 + Silent SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr4:47746513C>T uc003gxm.2 - 5 798 c.705G>A c.(703-705)CCG>CCA p.P235P CORIN_uc011bzf.1_Silent_p.P96P|CORIN_uc011bzg.1_Silent_p.P168P|CORIN_uc011bzh.1_Silent_p.P235P|CORIN_uc011bzi.1_Silent_p.P235P|CORIN_uc003gxn.3_Silent_p.P235P NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 235 Extracellular (Potential).|FZ 1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 TGAGGAAATCCGGCCAGGAGT 0.463000 UGT2A1 10941 broad.mit.edu 37 4 70455255 70455255 + Missense_Mutation SNP G G C TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr4:70455255G>C uc003hem.3 - 6 1482 c.1419C>G c.(1417-1419)CAC>CAG p.H473Q UGT2A1_uc011caq.1_Missense_Mutation_p.H639Q|UGT2A1_uc010ihu.2_Missense_Mutation_p.H473Q|UGT2A1_uc010iht.2_Missense_Mutation_p.H429Q|UGT2A1_uc010ihs.2_Missense_Mutation_p.H474Q NM_006798 NP_006789 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, 473 Extracellular (Potential). detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity|glucuronosyltransferase activity ovary(1) 1 CAACCCGAAGGTGCTTGGCTC 0.488000 EREG 2069 broad.mit.edu 37 4 75246757 75246757 + Missense_Mutation SNP G G T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr4:75246757G>T uc003hie.1 + 3 347 c.181G>T c.(181-183)GCT>TCT p.A61S EREG_uc003hid.2_Missense_Mutation_p.A55S NM_001432 NP_001423 O14944 EREG_HUMAN epiregulin preproprotein 61 Extracellular (Potential). angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing extracellular space|integral to plasma membrane epidermal growth factor receptor binding|growth factor activity breast(1)|skin(1) 2 Lung(101;0.196) TCCACGTGTGGCTCAAGTGTC 0.398000 TRIML1 339976 broad.mit.edu 37 4 189068387 189068387 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr4:189068387G>A uc003izm.1 + 6 1383 c.1268G>A c.(1267-1269)GGG>GAG p.G423E TRIML1_uc003izn.1_Missense_Mutation_p.G147E NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 423 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TTCTACAACGGGACGGATGAA 0.517000 EMB 133418 broad.mit.edu 37 5 49699147 49699147 + Nonsense_Mutation SNP C C A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr5:49699147C>A uc003jom.2 - 6 991 c.742G>T c.(742-744)GAA>TAA p.E248* EMB_uc010ivq.2_Nonsense_Mutation_p.E42*|EMB_uc003jol.2_Nonsense_Mutation_p.E179*|EMB_uc011cpy.1_Nonsense_Mutation_p.E198*|EMB_uc010ivr.2_Nonsense_Mutation_p.E194* NM_198449 NP_940851 Q6PCB8 EMB_HUMAN embigin precursor 248 Extracellular (Potential).|Ig-like V-type 2. integral to membrane 0 Lung SC(58;0.218) Lung NSC(810;0.0795) TCAATGTGTTCTTCACTCTCG 0.438000 ANKRD55 79722 broad.mit.edu 37 5 55407441 55407441 + Silent SNP G G T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr5:55407441G>T uc003jqu.2 - 10 1286 c.1134C>A c.(1132-1134)GTC>GTA p.V378V ANKRD55_uc003jqt.2_Silent_p.V90V NM_024669 NP_078945 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 isoform 1 377 skin(1) 1 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) TGATGTCATTGACTTCTGAGG 0.468000 NLN 57486 broad.mit.edu 37 5 65088312 65088312 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr5:65088312G>A uc003juf.2 + 9 1473 c.1357G>A c.(1357-1359)GGT>AGT p.G453S NLN_uc003jue.2_Missense_Mutation_p.G453S|NLN_uc003jug.2_Missense_Mutation_p.G282S|NLN_uc010iww.2_Missense_Mutation_p.G148S NM_020726 NP_065777 Q9BYT8 NEUL_HUMAN neurolysin precursor 453 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) GGCCTGCTTCGGTCTCCAGCC 0.562000 IRF1 3659 broad.mit.edu 37 5 131822042 131822042 + Missense_Mutation SNP T T A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr5:131822042T>A uc003kxa.2 - 7 802 c.568A>T c.(568-570)AGC>TGC p.S190C C5orf56_uc010jds.1_Missense_Mutation_p.L68Q|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.S190C|IRF1_uc010jdt.1_Missense_Mutation_p.S190C NM_002198 NP_002189 P10914 IRF1_HUMAN interferon regulatory factor 1 190 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm 0 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) GGGAGAGTGCTGCTGACAGCA 0.572000 SEC24A 10802 broad.mit.edu 37 5 134044579 134044579 + Splice_Site SNP G G T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr5:134044579G>T uc003kzs.2 + 18 3015 c.2727_splice c.e18+1 p.Q909_splice SEC24A_uc011cxu.1_Splice_Site_p.Q673_splice NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 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 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCTTAAACAGGTAAGAAAAAC 0.269000 SLC35B3 51000 broad.mit.edu 37 6 8430176 8430176 + Missense_Mutation SNP C C A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr6:8430176C>A uc010joe.2 - 3 384 c.218G>T c.(217-219)AGC>ATC p.S73I SLC35B3_uc003mya.2_Missense_Mutation_p.S41I|SLC35B3_uc003myc.2_RNA|SLC35B3_uc003myb.2_Missense_Mutation_p.S73I|SLC35B3_uc011did.1_Missense_Mutation_p.S73I|SLC35B3_uc003myd.2_RNA|SLC35B3_uc010jof.2_Missense_Mutation_p.S41I|SLC35B3_uc011die.1_Missense_Mutation_p.S73I NM_001142541 NP_001136013 Q9H1N7 S35B3_HUMAN solute carrier family 35, member B3 73 transmembrane transport Golgi membrane|integral to membrane 0 Ovarian(93;0.0569) GTTAAACTTGCTGAGATTCAT 0.348000 OR5V1 81696 broad.mit.edu 37 6 29323192 29323192 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr6:29323192G>A uc011dlo.1 - 1 863 c.781C>T c.(781-783)CGG>TGG p.R261W NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R261Q(1) ovary(3)|kidney(1) 4 GAGATGGGCCGTACATATGTA 0.438000 LY6G6C 80740 broad.mit.edu 37 6 31686897 31686897 + Silent SNP G G C TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr6:31686897G>C uc003nwh.2 - 3 408 c.354C>G c.(352-354)GGC>GGG p.G118G LY6G6C_uc010jtd.2_RNA NM_025261 NP_079537 O95867 LY66C_HUMAN lymphocyte antigen 6 complex G6C precursor 118 anchored to membrane|plasma membrane 0 AGAGGCCAAGGCCAGCCAAGG 0.607000 GFRAL 389400 broad.mit.edu 37 6 55216354 55216354 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr6:55216354G>A uc003pcm.1 + 5 760 c.674G>A c.(673-675)CGC>CAC p.R225H NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 225 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AGTGTAATTCGCAGCTGCCAA 0.428000 HIVEP2 3097 broad.mit.edu 37 6 143095264 143095264 + Silent SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr6:143095264C>T uc003qjd.2 - 5 1355 c.612G>A c.(610-612)CTG>CTA p.L204L NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 204 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TGTGTTTTTTCAGTACACTAG 0.463000 MTHFD1L 25902 broad.mit.edu 37 6 151257996 151257996 + Missense_Mutation SNP A A G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr6:151257996A>G uc003qob.2 + 12 1581 c.1313A>G c.(1312-1314)CAG>CGG p.Q438R MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.Q439R|MTHFD1L_uc003qoc.2_Missense_Mutation_p.Q386R NM_015440 NP_056255 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ 438 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity ovary(3)|large_intestine(1) 4 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) GGGCTTGTGCAGGCTCTGACC 0.512000 DLL1 28514 broad.mit.edu 37 6 170594221 170594221 + Missense_Mutation SNP A A T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr6:170594221A>T uc003qxm.2 - 8 1505 c.1035T>A c.(1033-1035)GAT>GAA p.D345E NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 345 Extracellular (Potential).|EGF-like 4; calcium-binding (Potential). cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) TGTTCTCGAGATCCTACACGA 0.557000 SDK1 221935 broad.mit.edu 37 7 4273010 4273010 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr7:4273010C>T uc003smx.2 + 41 6090 c.5951C>T c.(5950-5952)GCG>GTG p.A1984V SDK1_uc010kso.2_Missense_Mutation_p.A1240V|SDK1_uc003smy.2_Missense_Mutation_p.A471V|SDK1_uc003smz.2_Missense_Mutation_p.A44V NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1984 Fibronectin type-III 13. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GTGAATGAGGCGGGCTACGGG 0.622000 C7orf16 10842 broad.mit.edu 37 7 31735216 31735216 + Silent SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr7:31735216C>T uc003tcl.2 + 3 374 c.216C>T c.(214-216)CAC>CAT p.H72H C7orf16_uc011kaf.1_Intron NM_006658 NP_006649 O96001 GSUB_HUMAN G-substrate isoform 1 72 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(11;0.216) CGGCGCTGCACATCCCACCTT 0.443000 LAMB1 3912 broad.mit.edu 37 7 107572693 107572693 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr7:107572693C>T uc003vew.2 - 28 4653 c.4318G>A c.(4318-4320)GCC>ACC p.A1440T LAMB1_uc003vev.2_Missense_Mutation_p.A1464T|LAMB1_uc003veu.2_5'Flank NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1440 Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTCTGCCAGGCGTTGTGTGCA 0.552000 GCC1 79571 broad.mit.edu 37 7 127222337 127222337 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr7:127222337G>A uc003vma.2 - 2 2477 c.2059C>T c.(2059-2061)CGG>TGG p.R687W NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 687 Potential. Golgi membrane|plasma membrane protein binding ovary(2) 2 TCCAGCAGCCGATCCTGCAGC 0.592000 XRCC2 7516 broad.mit.edu 37 7 152346034 152346034 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr7:152346034C>T uc003wld.2 - 3 622 c.536G>A c.(535-537)TGC>TAC p.C179Y NM_005431 NP_005422 O43543 XRCC2_HUMAN X-ray repair cross complementing protein 2 179 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity breast(1)|liver(1) 2 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) CTTCTCTAAGCACTGAGAACA 0.433000 Homologous_recombination TMEM215 401498 broad.mit.edu 37 9 32784506 32784506 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr9:32784506G>A uc003zri.3 + 2 690 c.325G>A c.(325-327)GAT>AAT p.D109N NM_212558 NP_997723 Q68D42 TM215_HUMAN transmembrane protein 215 109 integral to membrane 0 GGGGAGCTCAGATGAGCTGGC 0.617000 KIAA1045 23349 broad.mit.edu 37 9 34976588 34976588 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr9:34976588G>A uc003zvq.2 + 5 878 c.700G>A c.(700-702)GGG>AGG p.G234R KIAA1045_uc003zvr.2_Missense_Mutation_p.G234R NM_015297 NP_056112 Q9UPV7 K1045_HUMAN hypothetical protein LOC23349 234 calcium ion binding skin(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00575) AGCCAAGCGGGGGGACCGTGA 0.632000 IARS 3376 broad.mit.edu 37 9 95004524 95004524 + Missense_Mutation SNP G G C TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr9:95004524G>C uc004art.1 - 29 3346 c.3089C>G c.(3088-3090)ACA>AGA p.T1030R IARS_uc004ars.1_Missense_Mutation_p.T875R|IARS_uc004aru.3_Missense_Mutation_p.T1030R|IARS_uc010mqr.2_Missense_Mutation_p.T920R|IARS_uc010mqt.2_Missense_Mutation_p.T253R NM_013417 NP_038203 P41252 SYIC_HUMAN isoleucine tRNA synthetase 1030 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding ovary(1)|skin(1) 2 L-Isoleucine(DB00167) TATGAACTCTGTGTGGCTTTC 0.388000 OR1L4 254973 broad.mit.edu 37 9 125487043 125487043 + Missense_Mutation SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr9:125487043G>A uc004bmu.1 + 1 775 c.775G>A c.(775-777)GTC>ATC p.V259I NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, 259 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGTCATCTATGTCTATTTTAG 0.517000 DPP7 29952 broad.mit.edu 37 9 140006168 140006168 + Missense_Mutation SNP T T A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr9:140006168T>A uc004clh.2 - 11 1276 c.1246A>T c.(1246-1248)AAC>TAC p.N416Y NM_013379 NP_037511 Q9UHL4 DPP2_HUMAN dipeptidyl peptidase 7 preproprotein 416 cytoplasmic membrane-bounded vesicle|extracellular region|lysosome aminopeptidase activity|protein binding|serine-type peptidase activity 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633) GGGTCCAGGTTCCCGTTGGAG 0.517000 ZMYM3 9203 broad.mit.edu 37 X 70462830 70462830 + Silent SNP G G A TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chrX:70462830G>A uc004dzh.1 - 22 3624 c.3537C>T c.(3535-3537)CTC>CTT p.L1179L BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.L1179L|ZMYM3_uc004dzj.1_Silent_p.L1167L NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 1179 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) TGTTGGGGAGGAGTGTGGGCT 0.502000 PABPC5 140886 broad.mit.edu 37 X 90690785 90690785 + Missense_Mutation SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chrX:90690785C>T uc004efg.2 + 2 649 c.209C>T c.(208-210)GCG>GTG p.A70V PABPC5_uc004eff.1_Intron NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 70 RRM 1. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 CGCTTTCCCGCGGATGCAGAG 0.527000 PCDH11X 27328 broad.mit.edu 37 X 91873417 91873417 + Silent SNP C C T TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chrX:91873417C>T uc004efk.1 + 7 4367 c.3522C>T c.(3520-3522)AGC>AGT p.S1174S PCDH11X_uc004efl.1_Silent_p.S1164S|PCDH11X_uc004efo.1_Silent_p.S1137S|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Silent_p.S1166S|PCDH11X_uc004efn.1_Silent_p.S1156S NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1174 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TATGCCACAGCCCACCACTGT 0.557000 AFF2 2334 broad.mit.edu 37 X 148048538 148048538 + Silent SNP C C G TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chrX:148048538C>G uc004fcp.2 + 14 3611 c.3132C>G c.(3130-3132)TCC>TCG p.S1044S AFF2_uc004fcq.2_Silent_p.S1034S|AFF2_uc004fcr.2_Silent_p.S1005S|AFF2_uc011mxb.1_Silent_p.S1009S|AFF2_uc004fcs.2_Silent_p.S1009S|AFF2_uc011mxc.1_Silent_p.S685S NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 1044 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) AGATGACGTCCTGGGCGGCTC 0.358000 TMTC1 83857 broad.mit.edu 37 12 29670442 29670457 + Frame_Shift_Del DEL GTGTTGTAATACAGTG GTGTTGTAATACAGTG - rs112380600 TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr12:29670441_29670456AGTGTTGTAATACAGTG>A uc021qwi.1 - 13 2132_2147 c.2073_2088CACTGTATTACAACACT>T c.(2071-2088)gcactgtattacaacactfs p.A691fs TMTC1_uc001riz.3_Frame_Shift_Del_p.A340fs|TMTC1_uc001rja.3_Frame_Shift_Del_p.A427fs|TMTC1_uc001rjb.3_Frame_Shift_Del_p.A583fs|TMTC1_uc001riy.3_Frame_Shift_Del_p.A36fs NM_001193451 NP_001180380 Q8IUR5 TMTC1_HUMAN Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA. 691 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) CGTATCGGCCAGTGTTGTAATACAGTGCTCCCAAAG 0.472 AKAP6 9472 broad.mit.edu 37 14 32902831 32902831 + Frame_Shift_Del DEL G G - TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr14:32902830_32902830AG>A uc001wrq.3 + 1 301 c.131_131AG>A c.(130-132)aagfs p.K44fs AKAP6_uc010aml.3_Frame_Shift_Del_p.K41fs NM_004274 NP_004265 Q13023 AKAP6_HUMAN Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA. 44 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GAGGCAATGAAGGACATGGAC 0.542 MED6 10001 broad.mit.edu 37 14 71060070 71060075 + In_Frame_Del DEL GATATA GATATA - TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr14:71060069_71060074TGATATA>T uc010tth.2 - 3 326_331 c.296_301TATATCA>A c.(295-303)tatatcatt>tAtt p.II100del MED6_uc001xmf.3_In_Frame_Del_p.II100del|MED6_uc010tti.2_In_Frame_Del_p.II100del|MED6_uc001xmg.1_In_Frame_Del_p.II100del|MED6_uc010ttj.2_In_Frame_Del_p.II100del NM_005466 NP_005457 O75586 MED6_HUMAN Homo sapiens mediator complex subunit 6 (MED6), mRNA. 100 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex transcription coactivator activity large_intestine(2)|lung(2)|skin(1) 5 all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352) ACTCCAGCAATGATATAGTAATCAGC 0.335 CSPG4 1464 broad.mit.edu 37 15 75982987 75982987 + Frame_Shift_Del DEL A A - TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr15:75982986_75982986TA>T uc002baw.3 - 2 513 c.420_420TA>A c.(418-420)ctafs p.L140fs NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA. 140 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 AGGGGACCTCTAGGGGGGCTC 0.642 ROCK1 6093 broad.mit.edu 37 18 18625286 18625287 + In_Frame_Ins INS - - AAA TCGA-D7-6518-01A-11D-1800-08 TCGA-D7-6518-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19406c86-dd55-420c-b6d4-b5ca9d3bfed6 8a32dd74-fa56-4328-917e-37c29e44cb47 g.chr18:18625285_18625286C>CAAA uc002kte.3 - 4 1498_1499 c.557_558G>TTTG c.(556-558)ttg>tTTTG p.L186F NM_005406 NP_005397 Q13464 ROCK1_HUMAN Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA. 186 Protein kinase. Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking Golgi membrane|centriole|cytosol ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) GGATTGCATCCAATGCAAGAAC 0.347