Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample MYSM1 114803 broad.mit.edu 37 1 59156029 59156029 + Missense_Mutation SNP A A T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr1:59156029A>T uc009wab.1 - 4 302 c.279T>A c.(277-279)GAT>GAA p.D93E MYSM1_uc001czc.2_RNA|MYSM1_uc001czd.2_Missense_Mutation_p.D93E NM_001085487 NP_001078956 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 93 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(1) 1 all_cancers(7;9.36e-06) TGTATTTTTTATCATCTTCCT 0.274 NaN 0 0 0 0.004878 0 36 36 RBM15 64783 broad.mit.edu 37 1 110882341 110882341 + Missense_Mutation SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr1:110882341G>A uc001dzl.1 + 1 397 c.314G>A c.(313-315)AGT>AAT p.S105N RBM15_uc001dzm.1_Missense_Mutation_p.S105N|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 105 Gly/Ser-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) AAGTCCAGCAGTCGAGGTGGC 0.622 NaN T MKL1 acute megakaryocytic leukemia OREG0013656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004672 0 3 16 WDR3 10885 broad.mit.edu 37 1 118476014 118476014 + Silent SNP T T G TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr1:118476014T>G uc010oxe.1 + 2 138 c.72T>G c.(70-72)GGT>GGG p.G24G WDR3_uc001ehi.2_Splice_Site|WDR3_uc001ehh.2_Splice_Site NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN WD repeat-containing protein 3 24 WD 1. nuclear membrane|nucleolus upper_aerodigestive_tract(1) 1 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) GCCAAAAAGGTAATATTGTCT 0.478 NaN 0 0 0 0.00245 0 8 47 BCL9 607 broad.mit.edu 37 1 147092477 147092477 + Missense_Mutation SNP G G T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr1:147092477G>T uc001epq.2 + 8 3256 c.2516G>T c.(2515-2517)CGC>CTC p.R839L BCL9_uc010ozr.1_Missense_Mutation_p.R765L NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 839 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) CCAGTTCAGCGCGGCCTGGGG 0.592 NaN T IGH@|IGL@ B-ALL 1 0 2.47316e-13 0.003271 2.75032e-13 27 54 LCE3D 84648 broad.mit.edu 37 1 152552220 152552220 + Missense_Mutation SNP G G A rs147417899 byFrequency TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr1:152552220G>A uc001fab.2 - 2 250 c.193C>T c.(193-195)CGC>TGC p.R65C NM_032563 NP_115952 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 65 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) GGCCTCTGGCGCCGGCATCGG 0.682 NaN 0 0 0 0.013114 0 42 61 NUP210L 91181 broad.mit.edu 37 1 153998026 153998026 + Missense_Mutation SNP C C A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr1:153998026C>A uc001fdw.2 - 30 4186 c.4114G>T c.(4114-4116)GGG>TGG p.G1372W NUP210L_uc009woq.2_Missense_Mutation_p.G281W|NUP210L_uc010peh.1_Missense_Mutation_p.G1372W NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1372 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) ACCTGGACCCCAGTTATGGTT 0.383 NaN 1 0 3.86212e-05 0.008291 4.08372e-05 10 244 KIRREL 55243 broad.mit.edu 37 1 158064739 158064739 + Silent SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr1:158064739C>T uc001frn.3 + 15 2507 c.2103C>T c.(2101-2103)TAC>TAT p.Y701Y KIRREL_uc010pib.1_Silent_p.Y601Y|KIRREL_uc009wsq.2_Silent_p.Y537Y|KIRREL_uc001fro.3_Silent_p.Y515Y|uc001frp.2_5'Flank NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 701 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) CAGCTGGGTACCCCACCTACC 0.632 NaN 0 0 0 0.006122 0 16 28 SLC9A11 284525 broad.mit.edu 37 1 173499145 173499145 + Missense_Mutation SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr1:173499145G>A uc001giz.2 - 18 2635 c.2212C>T c.(2212-2214)CGC>TGC p.R738C SLC9A11_uc009wwe.2_Missense_Mutation_p.R296C|SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 738 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 AAGCTGAGGCGCTTTTTGATC 0.323 NaN 0 0 0 0.008361 0 30 23 RYR2 6262 broad.mit.edu 37 1 237947439 237947439 + Missense_Mutation SNP A A G TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr1:237947439A>G uc001hyl.1 + 90 12547 c.12427A>G c.(12427-12429)AAA>GAA p.K4143E RYR2_uc010pya.1_Missense_Mutation_p.K558E NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4143 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGGAAGCGCCAAACGCATCGA 0.502 NaN 0 0 0 0.006122 0 18 24 TAF5 6877 broad.mit.edu 37 10 105128037 105128037 + Silent SNP A A G TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr10:105128037A>G uc001kwv.2 + 1 314 c.291A>G c.(289-291)CTA>CTG p.L97L TAF5_uc010qqq.1_Silent_p.L97L NM_006951 NP_008882 Q15542 TAF5_HUMAN TBP-associated factor 5 97 LisH. histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2) 2 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) GACAGACTCTACTGGCCGTGC 0.562 NaN 0 0 0 0.009096 0 4 3 SEC23IP 11196 broad.mit.edu 37 10 121685711 121685711 + Missense_Mutation SNP A A T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr10:121685711A>T uc001leu.1 + 13 2357 c.2285A>T c.(2284-2286)TAT>TTT p.Y762F SEC23IP_uc010qtc.1_Missense_Mutation_p.Y551F|SEC23IP_uc009xzk.1_RNA NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 762 Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) TGTGTGAATTATGAATCTTTT 0.443 NaN 0 0 0 0.012213 0 31 37 WDR11 55717 broad.mit.edu 37 10 122619733 122619733 + Missense_Mutation SNP G G C TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr10:122619733G>C uc010qtf.1 + 4 703 c.465G>C c.(463-465)AAG>AAC p.K155N WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 155 integral to membrane 0 TATGGAAGAAGAGCTATGCAG 0.418 NaN 0 0 0 0.007291 0 29 36 OR51D1 390038 broad.mit.edu 37 11 4661919 4661919 + Missense_Mutation SNP A A C rs141098080 byFrequency TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr11:4661919A>C uc010qyk.1 + 1 899 c.899A>C c.(898-900)AAC>ACC p.N300T NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 300 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CCTGTAGTCAACCCCCTTGTC 0.532 NaN 0 0 0 0.001168 0 4 71 OR4P4 81300 broad.mit.edu 37 11 55405931 55405931 + Missense_Mutation SNP A A G TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr11:55405931A>G uc010rij.1 + 1 98 c.98A>G c.(97-99)TAC>TGC p.Y33C NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 33 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TTGTTTTGCTACATTGCTATT 0.363 NaN 0 0 0 0.007413 0 20 7 CEP164 22897 broad.mit.edu 37 11 117253629 117253629 + Silent SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr11:117253629C>T uc001prc.2 + 14 1842 c.1695C>T c.(1693-1695)GTC>GTT p.V565V CEP164_uc001prb.2_Silent_p.V568V|CEP164_uc010rxk.1_Silent_p.V539V|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_5'Flank NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 565 Glu-rich. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) AGGTGGCGGTCAGCCCCACCC 0.622 NaN 0 0 0 0.010729 0 10 20 ABCG4 64137 broad.mit.edu 37 11 119025544 119025544 + Missense_Mutation SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr11:119025544C>T uc001pvs.2 + 6 941 c.605C>T c.(604-606)TCT>TTT p.S202F ABCG4_uc009zar.2_Missense_Mutation_p.S202F NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 202 Cytoplasmic (Potential).|ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GCCCTGCTCTCTGGCGGGCAG 0.622 NaN 0 0 0 0.01441 0 64 90 KRT84 3890 broad.mit.edu 37 12 52777464 52777464 + Missense_Mutation SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr12:52777464C>T uc001sah.1 - 2 713 c.665G>A c.(664-666)CGG>CAG p.R222Q NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 222 Rod.|Coil 1B. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) CAACTGCCTCCGCAGGTTGGT 0.542 NaN 0 0 0 0.01441 0 66 75 HNRNPA1 3178 broad.mit.edu 37 12 54675636 54675636 + Missense_Mutation SNP A A G TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr12:54675636A>G uc001sfl.2 + 3 294 c.190A>G c.(190-192)ACT>GCT p.T64A CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.T64A|HNRNPA1_uc009zng.2_Missense_Mutation_p.T64A|HNRNPA1_uc009znh.2_Missense_Mutation_p.T64A|HNRNPA1_uc009zni.2_Missense_Mutation_p.T64A|HNRNPA1_uc001sfn.2_Missense_Mutation_p.T64A|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.T19A|HNRNPA1_uc009znj.1_Missense_Mutation_p.T19A NM_031157 NP_112420 P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 64 Globular A domain.|RRM 1. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding skin(2)|ovary(1) 3 CACATATGCCACTGTGGAGGA 0.483 NaN 0 0 0 0.01441 0 50 49 ERBB3 2065 broad.mit.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr12:56478854G>T uc001sjh.2 + 3 503 c.310G>T c.(310-312)GTG>TTG p.V104L ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45L|ERBB3_uc001sjg.2_Missense_Mutation_p.V104L NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 104 Extracellular (Potential). V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.V104M(1) lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CAACCTCCGCGTGGTGCGAGG 0.517 NaN 1 0 3.60193e-44 0.01441 4.42522e-44 94 135 STAC3 246329 broad.mit.edu 37 12 57637894 57637894 + Nonsense_Mutation SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr12:57637894G>A uc001snp.2 - 11 1168 c.973C>T c.(973-975)CAG>TAG p.Q325* STAC3_uc009zpl.2_Missense_Mutation_p.A42V|STAC3_uc001snq.2_Nonsense_Mutation_p.Q286*|STAC3_uc010srm.1_Nonsense_Mutation_p.Q139* NM_145064 NP_659501 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 325 SH3 2. intracellular signal transduction identical protein binding|metal ion binding ovary(2)|skin(1) 3 AGAGTGATCTGCCCTATCTCG 0.562 NaN OREG0021942 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.014323 0 20 30 NR2C1 7181 broad.mit.edu 37 12 95434302 95434302 + Silent SNP C C A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr12:95434302C>A uc001tdm.3 - 10 1459 c.1203G>T c.(1201-1203)CTG>CTT p.L401L NR2C1_uc010suu.1_Silent_p.L401L|NR2C1_uc001tdo.3_Silent_p.L401L|NR2C1_uc001tdn.3_Silent_p.L401L NM_003297 NP_003288 P13056 NR2C1_HUMAN nuclear receptor subfamily 2, group C, member 1 401 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor PML body sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 TTGATAAGAACAGCAGTCTGG 0.423 NaN 1 0 9.65021e-13 0.010818 1.064e-12 32 40 FREM2 341640 broad.mit.edu 37 13 39420751 39420751 + Missense_Mutation SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr13:39420751G>A uc001uwv.2 + 7 6370 c.6061G>A c.(6061-6063)GAG>AAG p.E2021K FREM2_uc001uww.2_Missense_Mutation_p.E107K NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2021 Extracellular (Potential).|Calx-beta 3. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CTCTGTGGATGAGAGTGCTGG 0.433 NaN 0 0 0 0.010729 0 11 19 LPAR6 10161 broad.mit.edu 37 13 48986079 48986079 + Missense_Mutation SNP C C G TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr13:48986079C>G uc010acu.2 - 1 1575 c.481G>C c.(481-483)GGT>CGT p.G161R RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Missense_Mutation_p.G161R|LPAR6_uc001vcf.2_Missense_Mutation_p.G161R NM_001162498 NP_001155970 P43657 LPAR6_HUMAN G-protein coupled purinergic receptor P2Y5 161 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.?(4) ovary(4) 4 GCATTGTTACCCTGAGAGTGG 0.363 NaN 0 0 0 0.000602 0 5 5 MYH7 4625 broad.mit.edu 37 14 23897051 23897051 + Missense_Mutation SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr14:23897051G>A uc001wjx.2 - 16 1737 c.1631C>T c.(1630-1632)ACC>ATC p.T544I NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 544 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GGTCATGTCGGTGGCCTTGGG 0.552 NaN 0 0 0 0.00623 0 40 67 EHD4 30844 broad.mit.edu 37 15 42211817 42211817 + Missense_Mutation SNP T T C TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr15:42211817T>C uc001zot.2 - 4 578 c.515A>G c.(514-516)TAT>TGT p.Y172C NM_139265 NP_644670 Q9H223 EHD4_HUMAN EH-domain containing 4 172 endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding ovary(2) 2 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) GCAGAAGTCATAGCCTGGGTG 0.562 NaN 0 0 0 0.014323 0 20 22 TSC2 7249 broad.mit.edu 37 16 2121804 2121804 + Nonsense_Mutation SNP G G T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr16:2121804G>T uc002con.2 + 19 2072 c.1966G>T c.(1966-1968)GAG>TAG p.E656* TSC2_uc010bsd.2_Nonsense_Mutation_p.E656*|TSC2_uc002coo.2_Nonsense_Mutation_p.E656*|TSC2_uc010uvv.1_Nonsense_Mutation_p.E619*|TSC2_uc010uvw.1_Nonsense_Mutation_p.E607*|TSC2_uc002cop.2_Nonsense_Mutation_p.E456* NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 656 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) GAGAGGCTCTGAGAAGAAGAC 0.667 NaN D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 1 0 0.000602214 0.000602 0.000631591 5 12 XPO6 23214 broad.mit.edu 37 16 28112860 28112860 + Silent SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr16:28112860G>A uc002dpa.1 - 23 3696 c.3195C>T c.(3193-3195)TTC>TTT p.F1065F XPO6_uc002dpb.1_Silent_p.F1051F|XPO6_uc010vcp.1_Silent_p.F1064F NM_015171 NP_055986 Q96QU8 XPO6_HUMAN exportin 6 1065 protein export from nucleus protein binding|protein transporter activity ovary(1)|skin(1) 2 ACTCTGGGAGGAAGGCGGCAA 0.542 NaN 0 0 0 0.013726 0 34 51 NETO2 81831 broad.mit.edu 37 16 47163140 47163140 + Missense_Mutation SNP A A G TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr16:47163140A>G uc002eer.1 - 3 612 c.227T>C c.(226-228)TTG>TCG p.L76S NETO2_uc010vgf.1_5'Flank|NETO2_uc002ees.1_Missense_Mutation_p.L76S NM_018092 NP_060562 Q8NC67 NETO2_HUMAN neuropilin- and tolloid-like protein 2 76 Extracellular (Potential).|CUB 1. integral to membrane receptor activity 0 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) AATACCTTCCAAAATGTAGAT 0.348 NaN HNSCC(25;0.065) 0 0 0 0.013114 0 44 60 SF3B3 23450 broad.mit.edu 37 16 70594445 70594445 + Missense_Mutation SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr16:70594445G>A uc002ezf.2 + 16 2295 c.2084G>A c.(2083-2085)GGG>GAG p.G695E NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 695 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) CGGTACCTGGGGTCCCGTCCT 0.532 NaN 0 0 0 0.01441 0 47 49 CDH13 1012 broad.mit.edu 37 16 83636094 83636094 + Missense_Mutation SNP G G C TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr16:83636094G>C uc002fgx.2 + 8 1116 c.996G>C c.(994-996)GAG>GAC p.E332D CDH13_uc010vns.1_Missense_Mutation_p.E379D|CDH13_uc010vnt.1_Missense_Mutation_p.E78D|CDH13_uc010vnu.1_Missense_Mutation_p.E293D NM_001257 NP_001248 P55290 CAD13_HUMAN cadherin 13 preproprotein 332 Cadherin 2. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) TGATCATCGAGGCTCAAGATA 0.418 NaN 0 0 0 0.01441 0 55 102 CARD14 79092 broad.mit.edu 37 17 78166305 78166305 + Missense_Mutation SNP A A G TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr17:78166305A>G uc002jxw.1 + 9 1438 c.1243A>G c.(1243-1245)AAG>GAG p.K415E CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.K415E|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Missense_Mutation_p.K178E|CARD14_uc010dhu.1_Missense_Mutation_p.K213E NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN caspase recruitment domain protein 14 isoform 1 415 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding ovary(4)|skin(1) 5 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TTGGCAGCTCAAGCAGGAAGC 0.607 NaN 0 0 0 0.006999 0 31 59 AATK 9625 broad.mit.edu 37 17 79095182 79095182 + Missense_Mutation SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr17:79095182C>T uc010dia.2 - 11 2634 c.2554G>A c.(2554-2556)GAG>AAG p.E852K AATK_uc010dhz.2_RNA NM_001080395 NP_001073864 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 852 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1) 9 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GCCTCCACCTCGGGAGAGCTG 0.667 NaN 0 0 0 0.008291 0 11 6 LAMA1 284217 broad.mit.edu 37 18 6961676 6961676 + Missense_Mutation SNP A A C TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr18:6961676A>C uc002knm.2 - 53 7629 c.7535T>G c.(7534-7536)GTA>GGA p.V2512G LAMA1_uc002knl.2_5'UTR|LAMA1_uc010wzj.1_Missense_Mutation_p.V1988G NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2512 Laminin G-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding 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) GGCAAATGTTACCAGCCATTC 0.552 NaN 0 0 0 0.006214 0 4 20 FAM59A 64762 broad.mit.edu 37 18 29867460 29867460 + Missense_Mutation SNP T T A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr18:29867460T>A uc002kxl.2 - 4 1156 c.1100A>T c.(1099-1101)CAC>CTC p.H367L FAM59A_uc002kxk.1_Missense_Mutation_p.H367L NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 367 ovary(1)|skin(1) 2 ATTGGGCACGTGGTTGTGGCC 0.552 NaN 0 0 0 0.003271 0 31 42 PIP5K1C 23396 broad.mit.edu 37 19 3664824 3664824 + Missense_Mutation SNP T T C TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr19:3664824T>C uc002lyj.1 - 3 272 c.215A>G c.(214-216)AAG>AGG p.K72R PIP5K1C_uc010xhq.1_Missense_Mutation_p.K72R|PIP5K1C_uc010xhr.1_Missense_Mutation_p.K72R NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 72 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) AGGAACCTTCTTGTAGGTGGT 0.642 NaN 0 0 0 0.01441 0 66 91 MUC16 94025 broad.mit.edu 37 19 9063340 9063340 + Missense_Mutation SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr19:9063340C>T uc002mkp.2 - 3 24310 c.24106G>A c.(24106-24108)GAA>AAA p.E8036K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8038 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCCAGTATTTCAACTGAGGTG 0.463 NaN 0 0 0 0.005443 0 25 49 DCAF15 90379 broad.mit.edu 37 19 14070852 14070852 + Silent SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr19:14070852C>T uc002mxt.2 + 10 1503 c.1497C>T c.(1495-1497)TTC>TTT p.F499F DCAF15_uc002mxu.2_RNA NM_138353 NP_612362 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 499 central_nervous_system(1) 1 TCCTGGCCTTCCCGTCCCCCA 0.657 NaN OREG0025301 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004656 0 24 25 TSHZ3 57616 broad.mit.edu 37 19 31770348 31770348 + Missense_Mutation SNP C C A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr19:31770348C>A uc002nsy.3 - 2 416 c.351G>T c.(349-351)CAG>CAT p.Q117H NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 117 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) CGGCCTTCATCTGCTCCAGGC 0.507 NaN 1 0 1.00001e-27 0.009718 1.21699e-27 42 50 SUPT5H 6829 broad.mit.edu 37 19 39950550 39950550 + Missense_Mutation SNP A A T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr19:39950550A>T uc002olo.3 + 10 753 c.574A>T c.(574-576)ACG>TCG p.T192S SUPT5H_uc002olp.3_Missense_Mutation_p.T192S|SUPT5H_uc002olq.3_Missense_Mutation_p.T188S|SUPT5H_uc002oln.3_Missense_Mutation_p.T192S|SUPT5H_uc002olr.3_Missense_Mutation_p.T192S NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 192 Interaction with SUPT4H1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGAACGGGCCACGGCCATTTC 0.547 NaN 0 0 0 0.005443 0 26 53 IRGC 56269 broad.mit.edu 37 19 44222905 44222905 + Silent SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr19:44222905G>A uc002oxh.2 + 2 342 c.195G>A c.(193-195)GCG>GCA p.A65A NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 65 GTP. membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) AGTCGGGCGCGGGCAAGTCCT 0.701 NaN 0 0 0 0.009096 0 4 77 CGB7 94027 broad.mit.edu 37 19 49558229 49558229 + Missense_Mutation SNP T T C TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr19:49558229T>C uc002pmd.2 - 2 417 c.52A>G c.(52-54)ACA>GCA p.T18A CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Missense_Mutation_p.T18A NM_033142 NP_149133 P01233 CGHB_HUMAN chorionic gonadotropin, beta polypeptide 7 18 T -> A. apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity 0 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Choriogonadotropin alfa(DB00097) GATGCCCATGTCCCGCCCATG 0.657 NaN 0 0 0 0.004482 0 5 67 KIR3DL1 3811 broad.mit.edu 37 19 55377274 55377274 + Silent SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr19:55377274C>T uc002qhl.3 + 7 1078 c.1015C>T c.(1015-1017)CTG>TTG p.L339L KIR3DL2_uc010esh.2_Silent_p.L322L|KIR3DL2_uc002qho.3_Silent_p.L339L P43629 KI3L1_HUMAN SubName: Full=KIR3DS1; 339 Extracellular (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) CTGCAGACACCTGCATGTTCT 0.353 NaN 0 0 0 0.01441 0 44 60 TPO 7173 broad.mit.edu 37 2 1500391 1500391 + Missense_Mutation SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr2:1500391G>A uc002qww.2 + 13 2331 c.2240G>A c.(2239-2241)AGC>AAC p.S747N TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.S690N|TPO_uc002qwr.2_Missense_Mutation_p.S747N|TPO_uc002qwx.2_Missense_Mutation_p.S690N|TPO_uc010yio.1_Missense_Mutation_p.S574N|TPO_uc010yip.1_Missense_Mutation_p.S747N|TPO_uc002qwy.1_Missense_Mutation_p.S87N|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 747 Extracellular (Potential).|Sushi. cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TTCCCAGAGAGCGTGGAGAAT 0.557 NaN 0 0 0 0.001168 0 6 102 ATAD2B 54454 broad.mit.edu 37 2 23980429 23980429 + Missense_Mutation SNP G G C TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr2:23980429G>C uc002rek.3 - 25 4231 c.3937C>G c.(3937-3939)CAG>GAG p.Q1313E ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.Q553E|ATAD2B_uc002rej.3_Missense_Mutation_p.Q481E NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 1313 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTTTTGACTGGTCCTCCAGA 0.383 NaN 0 0 0 0.00333 0 25 34 PLEK 5341 broad.mit.edu 37 2 68607901 68607901 + Missense_Mutation SNP A A G TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr2:68607901A>G uc002sen.3 + 3 407 c.245A>G c.(244-246)CAG>CGG p.Q82R PLEK_uc010fde.2_Missense_Mutation_p.Q82R NM_002664 NP_002655 P08567 PLEK_HUMAN pleckstrin 82 PH 1. 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) CACTTCTTCCAGGCAGCCTTC 0.468 NaN 0 0 0 0.011902 0 41 58 FBLN7 129804 broad.mit.edu 37 2 112944789 112944789 + Silent SNP C C A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr2:112944789C>A uc002tho.1 + 8 1297 c.1026C>A c.(1024-1026)CTC>CTA p.L342L FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Silent_p.L296L|FBLN7_uc010fkj.1_Silent_p.L208L NM_153214 NP_694946 Q53RD9 FBLN7_HUMAN fibulin 7 isoform 1 342 cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding ovary(1)|central_nervous_system(1) 2 TCCATTACCTCTCTCTGCCTT 0.642 NaN 1 0 7.05377e-20 0.01441 8.27215e-20 48 71 TTN 7273 broad.mit.edu 37 2 179410748 179410748 + Missense_Mutation SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr2:179410748C>T uc010zfg.1 - 292 87735 c.87511G>A c.(87511-87513)GAA>AAA p.E29171K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E22866K|TTN_uc010zfi.1_Missense_Mutation_p.E22799K|TTN_uc010zfj.1_Missense_Mutation_p.E22674K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30098 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGAGTGATTTCTGCTCCTCCG 0.532 NaN 0 0 0 0.008871 0 18 16 TTN 7273 broad.mit.edu 37 2 179612398 179612398 + Missense_Mutation SNP A A G TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr2:179612398A>G uc002unb.2 - 46 14953 c.14729T>C c.(14728-14730)CTT>CCT p.L4910P TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCAGCAGCAAGTAAATATTG 0.413 NaN 0 0 0 0.006214 0 9 22 TTN 7273 broad.mit.edu 37 2 179656911 179656911 + Missense_Mutation SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr2:179656911G>A uc010zfg.1 - 10 1774 c.1550C>T c.(1549-1551)ACT>ATT p.T517I TTN_uc010zfh.1_Missense_Mutation_p.T517I|TTN_uc010zfi.1_Missense_Mutation_p.T517I|TTN_uc010zfj.1_Missense_Mutation_p.T517I|TTN_uc002unb.2_Missense_Mutation_p.T517I|TTN_uc010frg.1_Missense_Mutation_p.T191I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 517 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTTTTTTCAGTTTCTTTTCT 0.279 NaN 0 0 0 0.006122 0 17 23 C2orf67 151050 broad.mit.edu 37 2 210962866 210962866 + Silent SNP T T G TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr2:210962866T>G uc002vds.2 - 5 1702 c.1494A>C c.(1492-1494)TCA>TCC p.S498S C2orf67_uc002vdt.2_Silent_p.S498S|C2orf67_uc002vdw.2_Silent_p.S498S|C2orf67_uc002vdv.2_Silent_p.S498S|C2orf67_uc002vdx.1_Silent_p.S498S NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 498 ovary(3) 3 Renal(323;0.202) Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696) AAGAGAGGGGTGATGAAGTTG 0.423 NaN 0 0 0 0.004482 0 4 17 TMC2 117532 broad.mit.edu 37 20 2542536 2542536 + Missense_Mutation SNP G G T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr20:2542536G>T uc002wgf.1 + 4 449 c.434G>T c.(433-435)GGG>GTG p.G145V TMC2_uc002wgg.1_Missense_Mutation_p.G129V|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 145 Arg/Asp/Glu/Lys-rich (highly charged).|Cytoplasmic (Potential). integral to membrane ovary(3) 3 GCCTCTGGTGGGGAGTCCCTG 0.617 NaN 1 0 1.7489e-18 0.011902 2.01436e-18 43 55 ZBTB46 140685 broad.mit.edu 37 20 62421844 62421844 + Missense_Mutation SNP G G C TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr20:62421844G>C uc002ygv.1 - 2 468 c.267C>G c.(265-267)TTC>TTG p.F89L ZBTB46_uc002ygu.2_RNA NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 89 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1)|ovary(1) 2 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CTGAGTACATGAAGTCGATGA 0.612 NaN 0 0 0 0.007413 0 19 37 LMF2 91289 broad.mit.edu 37 22 50943119 50943119 + Missense_Mutation SNP C C G TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr22:50943119C>G uc003blp.2 - 11 1506 c.1475G>C c.(1474-1476)CGG>CCG p.R492P LMF2_uc010hba.2_Missense_Mutation_p.R314P|LMF2_uc003blo.2_Missense_Mutation_p.R467P NM_033200 NP_149977 Q9BU23 LMF2_HUMAN lipase maturation factor 2 492 endoplasmic reticulum membrane|integral to membrane breast(1) 1 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CGGGGGCGGCCGGCTCAGGTT 0.692 NaN 0 0 0 0.014323 0 21 29 LMCD1 29995 broad.mit.edu 37 3 8543629 8543629 + Missense_Mutation SNP C C A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr3:8543629C>A uc003bqq.2 + 1 119 c.5C>A c.(4-6)GCA>GAA p.A2E uc003bqp.2_5'Flank|LMCD1_uc011atd.1_5'UTR|LMCD1_uc011ate.1_5'UTR NM_014583 NP_055398 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 2 positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(96;0.124) AAGAGGATGGCAAAGGTGGCT 0.572 NaN 1 0 4.4004e-07 0.00333 4.69134e-07 21 50 RAD18 56852 broad.mit.edu 37 3 8988964 8988964 + Missense_Mutation SNP T T C TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr3:8988964T>C uc003brd.2 - 4 283 c.206A>G c.(205-207)GAG>GGG p.E69G RAD18_uc003bre.2_RNA NM_020165 NP_064550 Q9NS91 RAD18_HUMAN postreplication repair protein hRAD18p 69 DNA repair nucleus|replication fork damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding skin(3)|ovary(2) 5 OV - Ovarian serous cystadenocarcinoma(96;0.0552) CAGATCCGGCTCTGTGACAGT 0.343 NaN Rad6_pathway 0 0 0 0.009718 0 44 68 EXOG 9941 broad.mit.edu 37 3 38565704 38565704 + Nonsense_Mutation SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr3:38565704C>T uc003cih.2 + 6 1054 c.958C>T c.(958-960)CGA>TGA p.R320* EXOG_uc010hhg.2_RNA|EXOG_uc011ayq.1_Nonsense_Mutation_p.R270*|EXOG_uc003cij.2_Nonsense_Mutation_p.R180*|EXOG_uc010hhd.2_Nonsense_Mutation_p.R180*|EXOG_uc010hhe.2_Nonsense_Mutation_p.R180*|EXOG_uc003cik.2_Nonsense_Mutation_p.R180*|EXOG_uc010hhf.2_Nonsense_Mutation_p.R180*|EXOG_uc003cii.2_Nonsense_Mutation_p.R180* NM_005107 NP_005098 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 320 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding 0 TGAAGGAGCCCGATCAGTGCT 0.423 NaN 0 0 0 0.01441 0 62 115 SCN5A 6331 broad.mit.edu 37 3 38639411 38639411 + Missense_Mutation SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr3:38639411C>T uc003cio.2 - 14 2265 c.2071G>A c.(2071-2073)GCC>ACC p.A691T SCN5A_uc003cin.2_Missense_Mutation_p.A691T|SCN5A_uc003cil.3_Missense_Mutation_p.A691T|SCN5A_uc010hhi.2_Missense_Mutation_p.A691T|SCN5A_uc010hhk.2_Missense_Mutation_p.A691T|SCN5A_uc011ayr.1_Missense_Mutation_p.A691T|SCN5A_uc010hhj.1_Missense_Mutation_p.A302T NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 691 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TAGCGCTGGGCGAGACGGTTC 0.532 NaN 0 0 0 0.00499 0 15 79 CACNA1D 776 broad.mit.edu 37 3 53756393 53756393 + Missense_Mutation SNP G G T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr3:53756393G>T uc003dgv.3 + 12 1721 c.1558G>T c.(1558-1560)GTG>TTG p.V520L CACNA1D_uc003dgu.3_Missense_Mutation_p.V540L|CACNA1D_uc003dgy.3_Missense_Mutation_p.V520L|CACNA1D_uc003dgw.3_Missense_Mutation_p.V187L NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 520 Cytoplasmic (Potential).|II. axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TAGGGCCGCCGTGAAGTCTGT 0.483 NaN 1 0 8.86878e-18 0.01441 1.01245e-17 44 31 CACNA1D 776 broad.mit.edu 37 3 53837556 53837556 + Missense_Mutation SNP A A G TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr3:53837556A>G uc003dgv.3 + 44 5705 c.5542A>G c.(5542-5544)AGT>GGT p.S1848G CACNA1D_uc003dgu.3_Missense_Mutation_p.S1868G|CACNA1D_uc003dgy.3_Missense_Mutation_p.S1824G|CACNA1D_uc003dgw.3_Missense_Mutation_p.S1515G|CACNA1D_uc011bes.1_RNA NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1848 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GTATTTCAGTAGTGAGGAATG 0.602 NaN 0 0 0 0.01441 0 123 125 CADPS 8618 broad.mit.edu 37 3 62739249 62739249 + Missense_Mutation SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr3:62739249C>T uc003dll.2 - 3 1115 c.755G>A c.(754-756)CGG>CAG p.R252Q CADPS_uc003dlm.2_Missense_Mutation_p.R252Q|CADPS_uc003dln.2_Missense_Mutation_p.R252Q NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 252 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) CTGCTGCTTCCGCGGGTCCTC 0.567 NaN 0 0 0 0.007413 0 19 23 MORC1 27136 broad.mit.edu 37 3 108819338 108819338 + Missense_Mutation SNP G G C TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr3:108819338G>C uc003dxl.2 - 5 327 c.240C>G c.(238-240)ATC>ATG p.I80M MORC1_uc011bhn.1_Missense_Mutation_p.I80M NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 80 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 CAAAGTAAATGATGTCTGAAG 0.433 NaN 0 0 0 0.008361 0 29 50 BCHE 590 broad.mit.edu 37 3 165548632 165548632 + Missense_Mutation SNP G G T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr3:165548632G>T uc003fem.3 - 2 350 c.190C>A c.(190-192)CCA>ACA p.P64T BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 64 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) CCAAGAGGTGGCTGTGCATAG 0.418 NaN 1 0 0.00307968 0.00308 0.00320386 8 9 HRG 3273 broad.mit.edu 37 3 186394879 186394879 + Missense_Mutation SNP C C A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr3:186394879C>A uc003fqq.2 + 7 808 c.785C>A c.(784-786)CCC>CAC p.P262H NM_000412 NP_000403 P04196 HRG_HUMAN histidine-rich glycoprotein precursor 262 fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding ovary(1)|central_nervous_system(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) TTGGGACATCCCTTCCACTGG 0.468 NaN 1 0 2.52637e-11 0.005524 2.76188e-11 34 44 C3orf43 255798 broad.mit.edu 37 3 196235134 196235134 + Missense_Mutation SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr3:196235134C>T uc003fws.2 - 3 426 c.269G>A c.(268-270)CGT>CAT p.R90H C3orf43_uc003fwr.2_Missense_Mutation_p.R82H NM_001077657 NP_001071125 Q147U7 CC043_HUMAN hypothetical protein LOC255798 90 integral to membrane ovary(1) 1 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00298) CTCAAGCACACGAGTATGCAA 0.423 NaN 0 0 0 0.01441 0 88 110 FAM53A 152877 broad.mit.edu 37 4 1656882 1656882 + Silent SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr4:1656882G>A uc011bve.1 - 4 903 c.705C>T c.(703-705)CCC>CCT p.P235P FAM53A_uc010ibw.2_Silent_p.P235P NM_001013622 NP_001013644 Q6NSI3 FA53A_HUMAN dorsal neural-tube nuclear protein 235 nucleus 0 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) CCCAGGGCAGGGGAGTGCCCG 0.741 NaN 0 0 0 0.013537 0 9 0 PDGFRA 5156 broad.mit.edu 37 4 55130019 55130019 + Missense_Mutation SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr4:55130019G>A uc003han.3 + 4 884 c.553G>A c.(553-555)GGG>AGG p.G185R PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_Missense_Mutation_p.G185R|PDGFRA_uc010igq.1_Missense_Mutation_p.G79R|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 185 Extracellular (Potential).|Ig-like C2-type 2. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTTCACTGTAGGGCCCTATAT 0.478 NaN Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 0 0 0 0.00278 0 24 29 KIAA1211 57482 broad.mit.edu 37 4 57182439 57182439 + Missense_Mutation SNP C C A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr4:57182439C>A uc003hbk.2 + 8 3162 c.2771C>A c.(2770-2772)TCC>TAC p.S924Y KIAA1211_uc010iha.2_Missense_Mutation_p.S917Y|KIAA1211_uc011bzz.1_Missense_Mutation_p.S834Y|KIAA1211_uc003hbm.1_Missense_Mutation_p.S810Y NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 924 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) GCTGAACCTTCCAGCAGCCGC 0.647 NaN 1 0 1.22574e-08 0.014323 1.32874e-08 23 21 PRKG2 5593 broad.mit.edu 37 4 82126123 82126123 + Missense_Mutation SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr4:82126123G>A uc003hmh.2 - 1 93 c.79C>T c.(79-81)CGG>TGG p.R27W PRKG2_uc011cch.1_Missense_Mutation_p.R27W NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 27 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 ACCTTGTTCCGCAGAGCATCA 0.527 NaN 0 0 0 0.010729 0 11 11 CCNA2 890 broad.mit.edu 37 4 122740027 122740027 + Silent SNP G G C TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr4:122740027G>C uc003iec.3 - 6 1349 c.1044C>G c.(1042-1044)CTC>CTG p.L348L NM_001237 NP_001228 P20248 CCNA2_HUMAN cyclin A 348 cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity cytoplasm|nucleoplasm protein kinase binding ovary(1) 1 GCAAATACTTGAGGTATGGGT 0.388 NaN 0 0 0 0.003954 0 25 31 TTC37 9652 broad.mit.edu 37 5 94858955 94858955 + Nonsense_Mutation SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr5:94858955G>A uc003klb.2 - 18 1978 c.1708C>T c.(1708-1710)CGA>TGA p.R570* TTC37_uc010jbf.1_Nonsense_Mutation_p.R522* NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 570 TPR 9. binding ovary(3)|pancreas(1) 4 TATAGTCCTCGCCTAAGCCAG 0.393 NaN 0 0 0 0.010818 0 29 39 PCDHB9 56127 broad.mit.edu 37 5 140567962 140567962 + Missense_Mutation SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr5:140567962C>T uc003liw.1 + 1 1070 c.1070C>T c.(1069-1071)GCT>GTT p.A357V NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 357 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACTCTGTTGCTGAAAACTCT 0.388 NaN 0 0 0 0.005524 0 37 54 PCDHGA12 26025 broad.mit.edu 37 5 140810424 140810424 + Missense_Mutation SNP A A G TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr5:140810424A>G uc003lkt.1 + 1 267 c.98A>G c.(97-99)TAT>TGT p.Y33C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.Y33C NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 33 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGATACGCTATTCAGTTCCG 0.627 NaN 0 0 0 0.01441 0 90 107 SLC44A4 80736 broad.mit.edu 37 6 31842752 31842752 + Missense_Mutation SNP T T C TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr6:31842752T>C uc010jti.2 - 5 362 c.296A>G c.(295-297)AAC>AGC p.N99S SLC44A4_uc011dol.1_Missense_Mutation_p.N23S|SLC44A4_uc011dom.1_Missense_Mutation_p.N99S NM_025257 NP_079533 Q53GD3 CTL4_HUMAN choline transporter-like protein 4 99 Extracellular (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 Choline(DB00122) TGAGATGATGTTGCTGGACAG 0.577 NaN 0 0 0 0.01441 0 118 171 TNXB 7148 broad.mit.edu 37 6 32024427 32024427 + Silent SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr6:32024427C>T uc003nzl.2 - 23 8281 c.8079G>A c.(8077-8079)AAG>AAA p.K2693K NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2753 Fibronectin type-III 19. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 ACAGGTTCATCTTGTATTTAT 0.642 NaN 0 0 0 0.010504 0 17 21 ITPR3 3710 broad.mit.edu 37 6 33639056 33639056 + Missense_Mutation SNP A A T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr6:33639056A>T uc011drk.1 + 21 2920 c.2701A>T c.(2701-2703)ATG>TTG p.M901L NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 901 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 GCCCCCGGCCATGCTGCAGGC 0.632 NaN 0 0 0 0.007413 0 17 19 PKHD1 5314 broad.mit.edu 37 6 51497481 51497481 + Silent SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr6:51497481C>T uc003pah.1 - 65 11823 c.11547G>A c.(11545-11547)TTG>TTA p.L3849L NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3849 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TAGTCACAGGCAAGACAGCAA 0.463 NaN 0 0 0 0.009096 0 4 5 PKHD1 5314 broad.mit.edu 37 6 51497483 51497483 + Silent SNP A A G TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr6:51497483A>G uc003pah.1 - 65 11821 c.11545T>C c.(11545-11547)TTG>CTG p.L3849L NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3849 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GTCACAGGCAAGACAGCAAAT 0.463 NaN 0 0 0 0.009096 0 4 5 FILIP1 27145 broad.mit.edu 37 6 76023470 76023470 + Missense_Mutation SNP G G T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr6:76023470G>T uc003pia.2 - 5 2451 c.2078C>A c.(2077-2079)GCA>GAA p.A693E FILIP1_uc003phy.1_Missense_Mutation_p.A693E|FILIP1_uc003phz.2_Missense_Mutation_p.A594E|FILIP1_uc010kbe.2_Missense_Mutation_p.A696E|FILIP1_uc003pib.1_Missense_Mutation_p.A445E NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 693 Potential. skin(3)|ovary(1) 4 CTTCTCTATTGCTTTATTCTT 0.428 NaN 1 0 3.82274e-22 0.01441 4.56605e-22 75 131 UTRN 7402 broad.mit.edu 37 6 144794859 144794859 + Missense_Mutation SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr6:144794859G>A uc003qkt.2 + 23 3162 c.3070G>A c.(3070-3072)GAT>AAT p.D1024N UTRN_uc010khq.1_Missense_Mutation_p.D1024N NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1024 Spectrin 7. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CGATTAGGCCGATTCAACAGT 0.458 NaN 0 0 0 0.005443 0 26 32 SYNE1 23345 broad.mit.edu 37 6 152651117 152651117 + Missense_Mutation SNP C C A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr6:152651117C>A uc010kiw.2 - 78 15305 c.14703G>T c.(14701-14703)AGG>AGT p.R4901S SYNE1_uc003qot.3_Missense_Mutation_p.R4830S|SYNE1_uc003qou.3_Missense_Mutation_p.R4901S|SYNE1_uc010kiz.2_Missense_Mutation_p.R656S NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4901 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCTTCACTCTCCTCAGCCAGT 0.517 NaN HNSCC(10;0.0054) 1 0 6.33695e-27 0.007835 7.63987e-27 40 72 DGKB 1607 broad.mit.edu 37 7 14775768 14775768 + Missense_Mutation SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr7:14775768C>T uc003ssz.2 - 4 407 c.220G>A c.(220-222)GAG>AAG p.E74K DGKB_uc011jxt.1_Missense_Mutation_p.E67K|DGKB_uc003sta.2_Missense_Mutation_p.E74K|DGKB_uc011jxu.1_Missense_Mutation_p.E74K|DGKB_uc011jxv.1_Missense_Mutation_p.E74K NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 74 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) TCAGGAAGCTCGGCTTCCAGG 0.358 NaN 0 0 0 0.00245 0 13 14 ABCB5 340273 broad.mit.edu 37 7 20744417 20744417 + Missense_Mutation SNP C C G TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr7:20744417C>G uc003suw.3 + 11 1619 c.1073C>G c.(1072-1074)GCA>GGA p.A358G ABCB5_uc010kuh.2_Missense_Mutation_p.A803G NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 358 Extracellular (Potential).|ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 ATAGATATAGCACAAATTCAA 0.363 NaN 0 0 0 0.007413 0 17 28 DNAH11 8701 broad.mit.edu 37 7 21788260 21788260 + Missense_Mutation SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr7:21788260G>A uc003svc.2 + 53 8625 c.8594G>A c.(8593-8595)GGC>GAC p.G2865D NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2865 ATP (Potential).|AAA 4 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GGAGTTGGGGGCAGTGGCAAG 0.557 NaN Kartagener_syndrome 0 0 0 0.004482 0 8 15 HOXA2 3199 broad.mit.edu 37 7 27140478 27140478 + Missense_Mutation SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr7:27140478C>T uc003syh.2 - 2 1273 c.998G>A c.(997-999)TGC>TAC p.C333Y NM_006735 NP_006726 O43364 HXA2_HUMAN homeobox A2 333 nucleus sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 AAGCTGCAGGCAGGAATCTGT 0.502 NaN 0 0 0 0.01441 0 102 106 C7orf25 79020 broad.mit.edu 37 7 42950479 42950479 + Silent SNP G G A rs113806989 TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr7:42950479G>A uc003thw.2 - 2 485 c.21C>T c.(19-21)CTC>CTT p.L7L C7orf25_uc010kxq.2_Silent_p.L7L|C7orf25_uc003thx.3_Silent_p.L65L|C7orf25_uc010kxr.2_Silent_p.L65L NM_024054 NP_076959 Q9BPX7 CG025_HUMAN hypothetical protein LOC79020 b 7 skin(1) 1 TTCGTTCACAGAGCATGGAAT 0.423 NaN 0 0 0 0.01441 0 141 172 PNMA2 10687 broad.mit.edu 37 8 26365183 26365183 + Silent SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr8:26365183G>A uc003xez.2 - 3 1859 c.1089C>T c.(1087-1089)GAC>GAT p.D363D NM_007257 NP_009188 Q9UL42 PNMA2_HUMAN paraneoplastic antigen MA2 363 apoptosis nucleolus protein binding 0 all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105) UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123) GTTTTCAGTCGTCTCCCTCAT 0.408 NaN 0 0 0 0.01441 0 74 87 ADRA1A 148 broad.mit.edu 37 8 26721924 26721924 + Missense_Mutation SNP G G A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr8:26721924G>A uc003xfh.1 - 1 999 c.563C>T c.(562-564)TCA>TTA p.S188L ADRA1A_uc003xfc.1_Missense_Mutation_p.S188L|ADRA1A_uc010lul.1_Missense_Mutation_p.S188L|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.S188L|ADRA1A_uc010lum.1_Missense_Mutation_p.S188L|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.S188L NM_000680 NP_000671 P35348 ADA1A_HUMAN alpha-1A-adrenergic receptor isoform 1 188 Helical; Name=5; (By similarity). activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) GCCCAGCGCTGAGAAGAGCAC 0.637 NaN 0 0 0 0.006122 0 16 23 IL7 3574 broad.mit.edu 37 8 79650798 79650798 + Missense_Mutation SNP C C G TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr8:79650798C>G uc003ybg.2 - 4 902 c.301G>C c.(301-303)GAT>CAT p.D101H IL7_uc003ybe.2_Intron|IL7_uc011lfm.1_Intron|IL7_uc003ybh.2_RNA|IL7_uc003ybi.3_RNA NM_000880 NP_000871 P13232 IL7_HUMAN interleukin 7 precursor 101 bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-7 receptor binding 0 AAGTGGAGATCAAAATCACCA 0.353 NaN 0 0 0 0.003163 0 16 36 TRHR 7201 broad.mit.edu 37 8 110100415 110100415 + Missense_Mutation SNP C C T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr8:110100415C>T uc003ymz.3 + 1 690 c.674C>T c.(673-675)TCA>TTA p.S225L NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 225 Cytoplasmic (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CCCATTCCTTCAGATCCTAAA 0.368 NaN 0 0 0 0.012319 0 23 26 TRPS1 7227 broad.mit.edu 37 8 116599372 116599372 + Silent SNP C C A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr8:116599372C>A uc003ynz.2 - 4 2976 c.2517G>T c.(2515-2517)GCG>GCT p.A839A TRPS1_uc011lhy.1_Silent_p.A843A|TRPS1_uc003yny.2_Silent_p.A852A|TRPS1_uc010mcy.2_Silent_p.A839A NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 839 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AAATAGGTCGCGCCAGATGGG 0.607 NaN Langer-Giedion_syndrome 1 0 3.11337e-16 0.013726 3.49239e-16 22 26 KDM6A 7403 broad.mit.edu 37 X 44913157 44913157 + Nonsense_Mutation SNP G G T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chrX:44913157G>T uc004dge.3 + 10 1207 c.832G>T c.(832-834)GAA>TAA p.E278* KDM6A_uc010nhk.2_Nonsense_Mutation_p.E278*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.E278*|KDM6A_uc011mla.1_Nonsense_Mutation_p.E278*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.E278*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.E27* NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 278 TPR 5. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 AAAGTCCTTGGAAGCAGATCC 0.408 NaN D|N|F|S renal|oesophageal SCC|MM 1 0 7.47603e-22 0.01441 8.84777e-22 53 9 THOC2 57187 broad.mit.edu 37 X 122753270 122753270 + Silent SNP G G C TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chrX:122753270G>C uc004etu.2 - 33 4325 c.4293C>G c.(4291-4293)CTC>CTG p.L1431L THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Silent_p.L252L NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 1431 Lys-rich. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 AAGATTCCTTGAGTTCGATGA 0.393 NaN 0 0 0 0.001168 0 5 1 UTY 7404 broad.mit.edu 37 Y 15591422 15591422 + Nonsense_Mutation SNP C C A TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chrY:15591422C>A uc004fsx.1 - 1 1129 c.124G>T c.(124-126)GAA>TAA p.E42* UTY_uc004fsy.2_Nonsense_Mutation_p.E42*|UTY_uc004fsz.2_Nonsense_Mutation_p.E42* NM_007125 NP_009056 O14607 UTY_HUMAN tetratricopeptide repeat protein isoform 3 42 chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GCCTCCCTTTCCTCGACTGTC 0.607 NaN 1 0 7.88262e-20 0.00333 9.16089e-20 20 2 LAD1 3898 broad.mit.edu 37 1 201355634 201355635 + Frame_Shift_Ins INS - - G rs140126456 by1000genomes TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr1:201355634_201355635insG uc001gwm.2 - 3 1089_1090 c.854_855insC c.(853-855)ACAfs p.T285fs LAD1_uc009wzu.1_Frame_Shift_Ins_p.T307fs NM_005558 NP_005549 O00515 LAD1_HUMAN ladinin 1 285 basement membrane structural molecule activity 0 GCTCTGAGGCTGTGGCCCTCTT 0.634 NaN NaN NaN NaN NaN NaN 8 193 --- --- POLDIP2 26073 broad.mit.edu 37 17 26684390 26684391 + Splice_Site INS - - C rs148075904 by1000genomes TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr17:26684390_26684391insC uc002haz.2 - 3 211 c.79_splice c.e3+0 p.P27_splice POLDIP2_uc010wag.1_RNA|TMEM199_uc002hba.2_5'Flank|SARM1_uc010wah.1_5'Flank NM_015584 NP_056399 Q9Y2S7 PDIP2_HUMAN DNA polymerase delta interacting protein 2 mitochondrial nucleoid|nucleus 0 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GCACAGAGCGGCTTTGCCACCG 0.762 NaN NaN NaN NaN NaN NaN 4 4 --- --- LPHN1 22859 broad.mit.edu 37 19 14272185 14272186 + Frame_Shift_Ins INS - - C TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr19:14272185_14272186insC uc010xnn.1 - 7 1759_1760 c.1463_1464insG c.(1462-1464)GTCfs p.V488fs LPHN1_uc010xno.1_Frame_Shift_Ins_p.V483fs|uc002myf.2_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 488 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 CCGGCCACTGGACCCGCCGTAC 0.713 NaN NaN NaN NaN NaN NaN 8 23 --- --- GKN1 56287 broad.mit.edu 37 2 69201773 69201774 + Frame_Shift_Ins INS - - G TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr2:69201773_69201774insG uc002sfc.2 + 1 69_70 c.6_7insG c.(4-9)CTTGCCfs p.L2fs NM_019617 NP_062563 Q9NS71 GKN1_HUMAN 18 kDa antrum mucosa protein precursor 2_3 digestion|positive regulation of cell division extracellular region breast(1) 1 GGTCCATGCTTGCCTACTCCTC 0.411 NaN NaN NaN NaN NaN NaN 33 37 --- --- GPM6A 2823 broad.mit.edu 37 4 176622885 176622885 + Frame_Shift_Del DEL C C - TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr4:176622885delC uc003iuf.2 - 2 875 c.71delG c.(70-72)GGCfs p.G24fs GPM6A_uc011ckj.1_Frame_Shift_Del_p.G17fs|GPM6A_uc003iug.2_Frame_Shift_Del_p.G24fs|GPM6A_uc003iuh.2_Frame_Shift_Del_p.G13fs NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 24 Helical; (Potential). cell surface|integral to membrane 0 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) ATAGGGAATGCCCCCCAGGCA 0.428 NaN NaN NaN NaN NaN NaN 23 52 --- --- SPTAN1 6709 broad.mit.edu 37 9 131374468 131374469 + Frame_Shift_Ins INS - - T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chr9:131374468_131374469insT uc004bvl.3 + 38 5084_5085 c.4971_4972insT c.(4969-4974)GCCAACfs p.A1657fs SPTAN1_uc004bvm.3_Frame_Shift_Ins_p.A1662fs|SPTAN1_uc004bvn.3_Frame_Shift_Ins_p.A1637fs NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1657_1658 Spectrin 18. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TGAAAGAAGCCAACAAGCAGCA 0.53 NaN NaN NaN NaN NaN NaN 82 12 --- --- STAG2 10735 broad.mit.edu 37 X 123211880 123211881 + Frame_Shift_Ins INS - - T TCGA-DK-A1AA-01A-11D-A13W-08 TCGA-DK-A1AA-10A-01D-A13W-08 - T - - Valid Somatic Phase_I WXS RNASeq Illumina GAIIx 804ffa2e-158b-447d-945c-707684134c87 d44f75a2-9a75-4025-99a2-2bd68d2b0e82 g.chrX:123211880_123211881insT uc004etz.3 + 26 3086_3087 c.2747_2748insT c.(2746-2748)GCTfs p.A916fs STAG2_uc004eua.2_Frame_Shift_Ins_p.A916fs|STAG2_uc004eub.2_Frame_Shift_Ins_p.A916fs|STAG2_uc004euc.2_Frame_Shift_Ins_p.A916fs|STAG2_uc004eud.2_Frame_Shift_Ins_p.A916fs|STAG2_uc004eue.2_Frame_Shift_Ins_p.A916fs NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 916 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 ATTCAGTGTGCTAAGACCCTTA 0.322 NaN NaN NaN NaN NaN NaN 47 6 --- ---