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 ACHILLES_Top_Genes 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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut UBE4B 10277 broad.mit.edu 37 1 10197176 10197176 + Missense_Mutation SNP T T G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:10197176T>G uc001aqs.3 + 17 2989 c.2276T>G c.(2275-2277)TTT>TGT p.F759C UBE4B_uc001aqr.3_Missense_Mutation_p.F630C|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.F214C|UBE4B_uc001aqt.1_Missense_Mutation_p.F99C NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 759 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) GAGTGCTTCTTTCTCACCCTG 0.468 NA 9 94 0 0 0.004482 0 0 KIAA0754 643314 broad.mit.edu 37 1 39877931 39877931 + Nonsense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:39877931C>G uc009vvt.1 + 1 2756 c.1994C>G c.(1993-1995)TCA>TGA p.S665* MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 529 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GATGTTACCTCAGGACCTGAA 0.393 NA 7 143 0 0 0.004482 0 0 COL11A1 1301 broad.mit.edu 37 1 103355112 103355112 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:103355112G>A uc001dul.2 - 59 4681 c.4363C>T c.(4363-4365)CCT>TCT p.P1455S COL11A1_uc001duk.2_Missense_Mutation_p.P651S|COL11A1_uc001dum.2_Missense_Mutation_p.P1467S|COL11A1_uc001dun.2_Missense_Mutation_p.P1416S|COL11A1_uc009weh.2_Missense_Mutation_p.P1339S NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1455 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATTAAACCAGGATGTCCCTTT 0.388 NA 3 45 0 0 0.004672 0 0 NTNG1 22854 broad.mit.edu 37 1 107937934 107937934 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:107937934G>A uc001dvh.3 + 4 1764 c.1046G>A c.(1045-1047)GGC>GAC p.G349D NTNG1_uc001dvf.3_Missense_Mutation_p.G349D|NTNG1_uc010out.1_Missense_Mutation_p.G349D|NTNG1_uc001dvc.3_Missense_Mutation_p.G349D|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_Silent_p.R21R|NTNG1_uc001dvd.1_Missense_Mutation_p.G349D NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 349 Laminin EGF-like 1. axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) ATCCCCAAAGGCACTGCAAAT 0.448 NA 21 84 0 0 0.008871 0 0 ITGA10 8515 broad.mit.edu 37 1 145534172 145534172 + Silent SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:145534172G>A uc001eoa.2 + 14 1753 c.1677G>A c.(1675-1677)CTG>CTA p.L559L NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.L428L|ITGA10_uc009wiw.2_Silent_p.L416L|ITGA10_uc010oyw.1_Silent_p.L504L NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 559 Potential.|Extracellular (Potential).|FG-GAP 6. cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCCTGATCTGAACCAAGATG 0.582 NA 10 180 0 0 0.010729 0 0 FLG 2312 broad.mit.edu 37 1 152282874 152282874 + Missense_Mutation SNP G G C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:152282874G>C uc001ezu.1 - 3 4524 c.4488C>G c.(4486-4488)AGC>AGG p.S1496R NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1496 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCTCCTCTGCTTGACCCCG 0.577 NA Ichthyosis 220 475 0 0 0.01441 0 0 SLC30A1 7779 broad.mit.edu 37 1 211749082 211749082 + Missense_Mutation SNP T T C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:211749082T>C uc001hio.1 - 2 1317 c.1172A>G c.(1171-1173)GAA>GGA p.E391G NM_021194 NP_067017 Q9Y6M5 ZNT1_HUMAN solute carrier family 30 (zinc transporter), 391 Cytoplasmic (Potential). cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import integral to membrane|T-tubule calcium channel inhibitor activity|zinc ion transmembrane transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978) TGTTGGATCTTCACATTTTAT 0.388 NA 3 65 0 0 0.004672 0 0 USH2A 7399 broad.mit.edu 37 1 216251437 216251437 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:216251437C>G uc001hku.1 - 27 5953 c.5566G>C c.(5566-5568)GAA>CAA p.E1856Q NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1856 Laminin G-like 2.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTACCTTGTTCCAAACACAAA 0.458 NA HNSCC(13;0.011) 6 88 0 0 0.001984 0 0 HHIPL2 79802 broad.mit.edu 37 1 222715378 222715378 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:222715378C>A uc001hnh.1 - 3 1152 c.1094G>T c.(1093-1095)GGC>GTC p.G365V NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 365 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) TCCAAACAGGCCAAAGGGATC 0.537 NA 20 51 4.54149e-19 6.34094e-19 0.014323 1 0 CNST 163882 broad.mit.edu 37 1 246810486 246810486 + Missense_Mutation SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr1:246810486A>G uc001ibp.2 + 9 1361 c.983A>G c.(982-984)CAT>CGT p.H328R CNST_uc001ibo.3_Missense_Mutation_p.H328R NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 328 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 GAAAGCCAACATACAGTGGAG 0.433 NA OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 90 0 0 0.014323 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256140 15256140 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr10:15256140C>G uc001iob.2 - 8 1454 c.1447G>C c.(1447-1449)GAT>CAT p.D483H NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 483 Cytoplasmic (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 CTGTAGTCATCATTGCCCGAG 0.483 NA 15 83 0 0 0.00245 0 0 CCNY 219771 broad.mit.edu 37 10 35842027 35842027 + Silent SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr10:35842027C>T uc001iyw.3 + 8 840 c.660C>T c.(658-660)ATC>ATT p.I220I CCNY_uc001iyu.3_Silent_p.I166I|CCNY_uc001iyv.3_Silent_p.I166I|CCNY_uc001iyx.3_Silent_p.I166I|CCNY_uc009xmb.2_Silent_p.I195I|CCNY_uc010qet.1_Silent_p.I87I NM_145012 NP_659449 Q8ND76 CCNY_HUMAN cyclin Y isoform 1 220 Cyclin N-terminal. cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane cyclin-dependent protein kinase regulator activity|protein kinase binding 0 TAGGGGCGATCCTGCTGGCCT 0.512 NA 8 83 0 0 0.00308 0 0 NEURL 9148 broad.mit.edu 37 10 105350046 105350046 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr10:105350046C>T uc001kxh.2 + 6 2052 c.1642C>T c.(1642-1644)CGC>TGC p.R548C SH3PXD2A_uc010qqr.1_Intron NM_004210 NP_004201 O76050 NEU1A_HUMAN neuralized-like 548 RING-type. nervous system development perinuclear region of cytoplasm zinc ion binding 0 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) CTGTGGCCTGCGCCTCAAGAA 0.622 NA 7 40 0 0 0.001984 0 0 CCDC147 159686 broad.mit.edu 37 10 106121912 106121912 + Silent SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr10:106121912A>T uc001kyh.2 + 3 557 c.423A>T c.(421-423)TCA>TCT p.S141S NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 141 Potential. ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) CTGGACTGTCAATGGACCAGC 0.488 NA 3 8 0 0 0.004672 0 0 ZNF511 118472 broad.mit.edu 37 10 135125252 135125252 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr10:135125252G>T uc001lml.1 + 5 612 c.587G>T c.(586-588)GGA>GTA p.G196V TUBGCP2_uc001lmg.1_5'Flank|TUBGCP2_uc010qvc.1_5'Flank|TUBGCP2_uc009ybk.1_5'Flank|TUBGCP2_uc010qvd.1_5'Flank|TUBGCP2_uc001lmh.1_RNA|ZNF511_uc001lmj.1_Missense_Mutation_p.G196V|ZNF511_uc001lmk.1_Missense_Mutation_p.W176C|ZNF511_uc001lmm.1_RNA Q8NB15 ZN511_HUMAN SubName: Full=cDNA FLJ78327; SubName: Full=Zinc finger protein 511, isoform CRA_d; 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) GGGGACAGTGGAGAGCGGTCA 0.627 NA 10 62 0.000673444 0.000743804 0.008291 1 0 TH 7054 broad.mit.edu 37 11 2189733 2189733 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:2189733C>A uc001lvq.2 - 4 587 c.568G>T c.(568-570)GCG>TCG p.A190S TH_uc001lvp.2_Missense_Mutation_p.A186S|TH_uc001lvr.2_Missense_Mutation_p.A159S|TH_uc010qxj.1_Missense_Mutation_p.A163S|TH_uc001lvs.2_Missense_Mutation_p.A159S|TH_uc001lvt.2_Missense_Mutation_p.A163S|TH_uc009ydh.1_5'Flank NM_199292 NP_954986 P07101 TY3H_HUMAN tyrosine hydroxylase isoform a 190 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity 0 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) TTGGGCCCCGCGGGGCTGCGC 0.687 NA 3 28 0.004672 0.00490394 0.004672 1 0 OR56B1 387748 broad.mit.edu 37 11 5758467 5758467 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:5758467G>A uc001mbt.1 + 1 721 c.721G>A c.(721-723)GAA>AAA p.E241K TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005180 NP_001005180 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, 241 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) GAACTCAGCTGAAGCTGCAGC 0.423 NA 21 83 0 0 0.008871 0 0 NELL1 4745 broad.mit.edu 37 11 21592368 21592368 + Missense_Mutation SNP T T C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:21592368T>C uc001mqe.2 + 18 2192 c.2039T>C c.(2038-2040)CTA>CCA p.L680P NELL1_uc001mqf.2_Missense_Mutation_p.L633P|NELL1_uc009yid.2_Missense_Mutation_p.L708P|NELL1_uc010rdo.1_Missense_Mutation_p.L623P|NELL1_uc010rdp.1_Missense_Mutation_p.L393P|NELL1_uc001mqh.2_Missense_Mutation_p.L225P NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 680 VWFC 3. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 AGTGCTGACCTATTCTGTTGC 0.438 NA 16 82 0 0 0.004007 0 0 RAG1 5896 broad.mit.edu 37 11 36596428 36596428 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:36596428C>A uc001mwu.3 + 2 1698 c.1574C>A c.(1573-1575)CCT>CAT p.P525H RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 525 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) TGGCAGCCACCTCTGAAGAAT 0.493 Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363) NA Familial_Hemophagocytic_Lymphohistiocytosis 20 77 2.4624e-09 3.22509e-09 0.008871 1 0 ALX4 60529 broad.mit.edu 37 11 44289169 44289169 + Missense_Mutation SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:44289169A>G uc001myb.2 - 3 885 c.781T>C c.(781-783)TGG>CGG p.W261R NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 261 Homeobox. hair follicle development 0 TTCTGGAACCAGACCTACAAG 0.577 NA 20 69 0 0 0.010504 0 0 AGBL2 79841 broad.mit.edu 37 11 47712126 47712126 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:47712126G>A uc001ngg.2 - 9 1233 c.1133C>T c.(1132-1134)ACG>ATG p.T378M AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.T340M|AGBL2_uc001ngh.1_Missense_Mutation_p.T322M NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN carboxypeptidase 2, cytosolic 378 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 AATGGTCCACGTGAGACAGTA 0.468 NA 22 98 0 0 0.00333 0 0 OR4A5 81318 broad.mit.edu 37 11 51412273 51412273 + Silent SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:51412273C>A uc001nhi.1 - 1 123 c.123G>T c.(121-123)CTG>CTT p.L41L NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 41 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) CCACAATGAGCAGGTTCCCCA 0.448 NA 12 32 2.27111e-07 2.77789e-07 0.013537 1 0 OR5T2 219464 broad.mit.edu 37 11 55999948 55999948 + Silent SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:55999948G>T uc010rjc.1 - 1 714 c.714C>A c.(712-714)CTC>CTA p.L238L NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 238 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) CAAAGTAGAAGAGTAGAAGCT 0.428 NA 14 87 4.93089e-13 6.63429e-13 0.00245 1 0 TMEM179B 374395 broad.mit.edu 37 11 62554927 62554927 + Silent SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:62554927C>T uc001nvd.3 + 1 54 c.24C>T c.(22-24)CGC>CGT p.R8R NM_199337 NP_955369 Q7Z7N9 T179B_HUMAN transmembrane protein 179B 8 integral to membrane 0 GGCTGCAGCGCGTCGAGCTTG 0.726 NA OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 18 0 0 0.004672 0 0 FERMT3 83706 broad.mit.edu 37 11 63990560 63990560 + Missense_Mutation SNP A A C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:63990560A>C uc001nyl.2 + 14 1872 c.1723A>C c.(1723-1725)AAC>CAC p.N575H FERMT3_uc001nym.2_Missense_Mutation_p.N571H NM_178443 NP_848537 Q86UX7 URP2_HUMAN fermitin family homolog 3 long form 575 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding ovary(1) 1 GGGCATCGCCAACAACCGACT 0.627 NA 13 53 0 0 0.001855 0 0 SIPA1 6494 broad.mit.edu 37 11 65408900 65408900 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:65408900G>A uc001ofb.2 + 2 675 c.508G>A c.(508-510)GGG>AGG p.G170R SIPA1_uc010rom.1_Missense_Mutation_p.G170R|SIPA1_uc001ofd.2_Missense_Mutation_p.G170R NM_006747 NP_006738 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated protein 170 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity 0 GTGTGAGCTCGGGGGTGAGGG 0.677 NA 6 77 0 0 0.001984 0 0 USP35 57558 broad.mit.edu 37 11 77918630 77918630 + Silent SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:77918630C>T uc009yva.1 + 8 1692 c.1446C>T c.(1444-1446)ACC>ACT p.T482T USP35_uc001oze.2_Silent_p.T238T|USP35_uc001ozc.2_Silent_p.T50T|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Silent_p.T93T|USP35_uc001ozf.2_Silent_p.T213T NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 482 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) CCCTGATGACCAAGCTGCAGT 0.582 NA 17 104 0 0 0.006122 0 0 FAT3 120114 broad.mit.edu 37 11 92615964 92615964 + Silent SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:92615964G>A uc001pdj.3 + 23 12359 c.12342G>A c.(12340-12342)GTG>GTA p.V4114V FAT3_uc001pdi.3_Silent_p.V554V NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4114 Extracellular (Potential).|EGF-like 4; calcium-binding (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCTCCTGCGTGAACGTGTTCG 0.637 NA TCGA Ovarian(4;0.039) 5 12 0 0 0.001168 0 0 OR6M1 390261 broad.mit.edu 37 11 123676438 123676438 + Missense_Mutation SNP G G A rs146786799 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr11:123676438G>A uc010rzz.1 - 1 620 c.620C>T c.(619-621)TCC>TTC p.S207F NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 207 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S207F(1) skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) GAATGCCAGGGAGCTCAGGAT 0.483 NA 3 43 0 0 0.004672 0 0 ITPR2 3709 broad.mit.edu 37 12 26810659 26810659 + Nonsense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr12:26810659C>A uc001rhg.2 - 18 2590 c.2173G>T c.(2173-2175)GAA>TAA p.E725* NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 725 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) GTAAGAACTTCTAAGTCAGCT 0.398 NA 13 75 1.5842e-08 2.00395e-08 0.001855 1 0 YARS2 51067 broad.mit.edu 37 12 32908428 32908428 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr12:32908428C>G uc001rli.2 - 1 447 c.381G>C c.(379-381)AAG>AAC p.K127N NM_001040436 NP_001035526 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 127 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity 0 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) CCTCGCGTTCCTTGGTACGGC 0.682 NA OREG0021729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 40 0 0 0.000602 0 0 KRT6B 3854 broad.mit.edu 37 12 52845437 52845437 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr12:52845437C>A uc001sak.2 - 1 474 c.426G>T c.(424-426)CAG>CAT p.Q142H NM_005555 NP_005546 P04259 K2C6B_HUMAN keratin 6B 142 Head. ectoderm development keratin filament structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.083) TCAGGAGACTCTGGTTGACAG 0.622 NA 12 160 0.00136819 0.00146734 0.013537 1 0 ITGA5 3678 broad.mit.edu 37 12 54801969 54801969 + Nonsense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr12:54801969C>A uc001sga.2 - 7 810 c.742G>T c.(742-744)GAG>TAG p.E248* ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA NM_002205 NP_002196 P08648 ITA5_HUMAN integrin alpha 5 precursor 248 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding ovary(2) 2 ATCAGGTACTCGGGGTAATAA 0.547 NA 13 45 1.49906e-05 1.77489e-05 0.00245 1 0 ATP2A2 488 broad.mit.edu 37 12 110783811 110783811 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr12:110783811C>T uc001tqk.3 + 19 3310 c.2747C>T c.(2746-2748)TCC>TTC p.S916F ATP2A2_uc001tql.3_Missense_Mutation_p.S916F|ATP2A2_uc010sxy.1_Missense_Mutation_p.S889F|ATP2A2_uc001tqn.3_5'UTR|ATP2A2_uc009zvn.2_5'Flank NM_170665 NP_733765 P16615 AT2A2_HUMAN ATPase, Ca++ transporting, slow twitch 2 isoform 916 Helical; Name=8; (By similarity). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding ovary(3)|skin(1) 4 TGCAGCTTGTCCGAAAACCAG 0.572 NA 13 73 0 0 0.013537 0 0 IFT88 8100 broad.mit.edu 37 13 21205212 21205212 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr13:21205212G>T uc001unh.2 + 18 1780 c.1384G>T c.(1384-1386)GCA>TCA p.A462S IFT88_uc001uni.2_Missense_Mutation_p.A453S|IFT88_uc001unj.2_Missense_Mutation_p.A452S|IFT88_uc010tcq.1_Missense_Mutation_p.A433S|IFT88_uc001unk.2_Missense_Mutation_p.A208S|IFT88_uc001unl.1_Missense_Mutation_p.A80S NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 462 TPR 6. cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) AAGTGCAGCTGCAACCAATCT 0.343 NA 11 69 2.80697e-09 3.61245e-09 0.010729 1 0 MTUS2 23281 broad.mit.edu 37 13 29600083 29600083 + Silent SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr13:29600083A>T uc001usl.3 + 1 1336 c.1278A>T c.(1276-1278)CCA>CCT p.P426P NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 416 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 AAATTTCACCATGTGCAGGTG 0.512 NA 9 41 0 0 0.004482 0 0 CPB2 1361 broad.mit.edu 37 13 46632454 46632454 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr13:46632454G>T uc001vaw.2 - 9 926 c.859C>A c.(859-861)CCA>ACA p.P287T uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.P250T NM_001872 NP_001863 Q96IY4 CBPB2_HUMAN plasma carboxypeptidase B2 isoform a 287 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) TTCACTTCTGGTTCTGACTCA 0.418 NA 6 87 0.00116845 0.00126226 0.001168 1 0 DNAJC3 5611 broad.mit.edu 37 13 96416145 96416145 + Missense_Mutation SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr13:96416145A>G uc001vmq.2 + 9 1121 c.1013A>G c.(1012-1014)GAC>GGC p.D338G DNAJC3_uc001vmr.2_Missense_Mutation_p.D287G NM_006260 NP_006251 Q13217 DNJC3_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 3 338 TPR 8. protein folding|response to unfolded protein|response to virus heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding 0 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.126) ATGGAACCTGACAATGTGAAT 0.393 NA 10 74 0 0 0.006214 0 0 CLYBL 171425 broad.mit.edu 37 13 100511246 100511246 + Silent SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr13:100511246G>T uc001vok.2 + 3 395 c.381G>T c.(379-381)CGG>CGT p.R127R CLYBL_uc010tix.1_Silent_p.R127R|CLYBL_uc010tiy.1_Silent_p.R127R NM_206808 NP_996531 Q8N0X4 CLYBL_HUMAN citrate lyase beta like precursor 127 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGCAATCCCGGGTCCTTCCTT 0.488 NA 9 28 2.74318e-10 3.65757e-10 0.006214 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68264919 68264919 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr14:68264919G>A uc001xka.2 - 11 2199 c.2060C>T c.(2059-2061)GCC>GTC p.A687V ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.A687V|ZFYVE26_uc010tta.1_Missense_Mutation_p.A687V NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 687 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CCTGAGGAAGGCCCCTATTGC 0.483 NA 9 54 0 0 0.004482 0 0 SPATA7 55812 broad.mit.edu 37 14 88857734 88857734 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr14:88857734C>T uc001xwq.2 + 2 180 c.29C>T c.(28-30)ACC>ATC p.T10I SPATA7_uc001xwr.2_Missense_Mutation_p.T10I NM_018418 NP_060888 Q9P0W8 SPAT7_HUMAN spermatogenesis-associated protein 7 isoform a 10 response to stimulus|visual perception ovary(1) 1 GTCAGAGCAACCTCTGTCCTT 0.318 NA 3 14 0 0 0.004672 0 0 PIGB 9488 broad.mit.edu 37 15 55613537 55613537 + Silent SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr15:55613537A>T uc002act.2 + 3 682 c.366A>T c.(364-366)GCA>GCT p.A122A uc002acs.2_5'Flank|PIGB_uc010ugg.1_Intron NM_004855 NP_004846 Q92521 PIGB_HUMAN phosphatidylinositol glycan, class B 122 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity 0 all cancers(107;0.0255) TAATCTTTGCAAGCATTTACA 0.328 NA 5 10 0 0 0.00308 0 0 VPS33B 26276 broad.mit.edu 37 15 91548985 91548985 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr15:91548985C>T uc002bqp.1 - 13 1323 c.969G>A c.(967-969)ATG>ATA p.M323I VPS33B_uc002bqq.1_Missense_Mutation_p.M232I|VPS33B_uc010uqu.1_Missense_Mutation_p.M296I NM_018668 NP_061138 Q9H267 VP33B_HUMAN vacuolar protein sorting 33B (yeast homolog)) 323 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding ovary(2) 2 Lung NSC(78;0.0987)|all_lung(78;0.175) CGAAATTCTTCATCTGCTTAA 0.567 NA 9 85 0 0 0.006214 0 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr15:102515299G>A uc002cdi.2 + 9 1943 c.523G>A c.(523-525)GGC>AGC p.G175S WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 TGGGGGCATCGGCAAGGCCAA 0.652 NA 9 15 0 0 0.008291 0 0 GDE1 51573 broad.mit.edu 37 16 19514835 19514835 + Missense_Mutation SNP T T C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr16:19514835T>C uc002dgh.2 - 6 1117 c.953A>G c.(952-954)TAT>TGT p.Y318C GDE1_uc002dgi.2_Missense_Mutation_p.Y208C NM_016641 NP_057725 Q9NZC3 GDE1_HUMAN glycerophosphodiester phosphodiesterase 1 318 Cytoplasmic (Potential).|GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 GTCAGTGATATAGCTGGAACC 0.458 NA OREG0023659 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 77 0 0 0.013537 0 0 ACSM5 54988 broad.mit.edu 37 16 20430747 20430747 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr16:20430747G>A uc002dhe.2 + 4 760 c.613G>A c.(613-615)GAA>AAA p.E205K ACSM5_uc002dhd.1_Missense_Mutation_p.E205K NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 205 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 GAACTTCAGGGAACTCCTCCG 0.517 NA 12 37 0 0 0.001855 0 0 MYH3 4621 broad.mit.edu 37 17 10537453 10537453 + Missense_Mutation SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr17:10537453A>G uc002gmq.1 - 31 4480 c.4403T>C c.(4402-4404)CTG>CCG p.L1468P NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1468 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 GGATGCCTCCAGCTCTGCTTG 0.507 NA 5 103 0 0 0.001168 0 0 HOXB1 3211 broad.mit.edu 37 17 46607756 46607756 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr17:46607756C>G uc002ink.1 - 1 517 c.511G>C c.(511-513)GAA>CAA p.E171Q NM_002144 NP_002135 P14653 HXB1_HUMAN homeobox B1 171 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GTGTTAGGTTCTGAAGGGCAG 0.602 NA 7 40 0 0 0.001984 0 0 DLX4 1748 broad.mit.edu 37 17 48051138 48051138 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr17:48051138G>A uc002ipv.2 + 3 825 c.554G>A c.(553-555)GGG>GAG p.G185E DLX4_uc002ipw.2_Missense_Mutation_p.G113E NM_138281 NP_612138 Q92988 DLX4_HUMAN distal-less homeobox 4 isoform a 185 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGGCAGGAAGGGGACTTCCCT 0.557 NA 37 127 0 0 0.003755 0 0 NOL4 8715 broad.mit.edu 37 18 31803075 31803075 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr18:31803075G>T uc010dmi.2 - 1 372 c.143C>A c.(142-144)ACG>AAG p.T48K NOL4_uc002kxr.3_5'Flank|NOL4_uc010xbt.1_5'Flank|NOL4_uc010dmh.2_5'Flank|NOL4_uc010xbu.1_Missense_Mutation_p.T48K|NOL4_uc002kxt.3_Missense_Mutation_p.T48K NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 48 nucleolus RNA binding ovary(3) 3 GGCGTTGTCCGTGGAGCTCGA 0.597 NA 9 71 3.86212e-05 4.43096e-05 0.008291 1 0 ADNP2 22850 broad.mit.edu 37 18 77895840 77895840 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr18:77895840C>G uc002lnw.2 + 4 2999 c.2544C>G c.(2542-2544)CAC>CAG p.H848Q NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 848 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|breast(3)|central_nervous_system(1) 8 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CTGGGATACACTCCAAGTCAC 0.567 NA 13 83 0 0 0.003163 0 0 TJP3 27134 broad.mit.edu 37 19 3736270 3736270 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr19:3736270G>A uc010xhv.1 + 10 1334 c.1334G>A c.(1333-1335)GGC>GAC p.G445D TJP3_uc010xhs.1_Missense_Mutation_p.G412D|TJP3_uc010xht.1_Missense_Mutation_p.G376D|TJP3_uc010xhu.1_Missense_Mutation_p.G421D|TJP3_uc010xhw.1_Missense_Mutation_p.G431D NM_014428 NP_055243 O95049 ZO3_HUMAN tight junction protein 3 426 PDZ 3. tight junction protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GTGCAGGCGGGCAGCCCGGCC 0.697 NA 3 30 0 0 0.009096 0 0 RYR1 6261 broad.mit.edu 37 19 38983277 38983277 + Splice_Site SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr19:38983277G>A uc002oit.2 + 38 6404 c.6274_splice c.e38+1 p.R2092_splice RYR1_uc002oiu.2_Splice_Site_p.R2092_splice NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGCAAACCCCGTGAGGACTGG 0.627 NA 3 11 0 0 0.004672 0 0 SAMD4B 55095 broad.mit.edu 37 19 39871697 39871697 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr19:39871697G>A uc002olb.2 + 14 2951 c.1916G>A c.(1915-1917)CGC>CAC p.R639H SAMD4B_uc002ola.2_Missense_Mutation_p.R639H NM_018028 NP_060498 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 639 protein binding 0 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) TCTGTGCAGCGCACCCACTCG 0.607 NA 5 72 0 0 0.000602 0 0 PSG11 5680 broad.mit.edu 37 19 43523108 43523108 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr19:43523108C>G uc002ovm.1 - 3 630 c.523G>C c.(523-525)GAC>CAC p.D175H PSG11_uc002ouw.2_Missense_Mutation_p.D181H|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.D181H|PSG11_uc002ovn.1_Missense_Mutation_p.D181H|PSG11_uc002ovo.1_Missense_Mutation_p.D53H|PSG11_uc002ovp.1_Missense_Mutation_p.D53H NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 175 Ig-like C2-type 1. female pregnancy extracellular region 0 Prostate(69;0.00682) TAGCTTGCGTCCGGAGTCTCA 0.527 NA 26 336 0 0 0.00333 0 0 CLEC11A 6320 broad.mit.edu 37 19 51228604 51228604 + Silent SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr19:51228604C>T uc002psy.2 + 4 1030 c.852C>T c.(850-852)AGC>AGT p.S284S NM_002975 NP_002966 Q9Y240 CLC11_HUMAN stem cell growth factor precursor 284 C-type lectin. positive regulation of cell proliferation cytoplasm|extracellular region growth factor activity|sugar binding ovary(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) ATCCGCTCAGCCCGGACCAGC 0.701 NA 6 15 0 0 0.001984 0 0 ZNF845 91664 broad.mit.edu 37 19 53854728 53854728 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr19:53854728G>T uc010ydv.1 + 4 917 c.800G>T c.(799-801)GGC>GTC p.G267V ZNF845_uc010ydw.1_Missense_Mutation_p.G267V NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGTCACACTGGCAAGAAACCT 0.393 NA 7 61 2.7689e-08 3.47285e-08 0.001984 1 0 ZNF813 126017 broad.mit.edu 37 19 53989968 53989968 + Missense_Mutation SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr19:53989968A>G uc002qbu.2 + 3 226 c.98A>G c.(97-99)TAC>TGC p.Y33C ZNF813_uc010eqq.1_RNA NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 33 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) AGGACTCTATACAGGGACGTG 0.473 NA 22 131 0 0 0.003954 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17699682 17699682 + Missense_Mutation SNP T T A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:17699682T>A uc002rcl.1 - 1 25 c.1A>T c.(1-3)ATG>TTG p.M1L RAD51AP2_uc010exn.1_Intron NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 1 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GGGAGAGACATGACAGCGAAT 0.622 NA 14 95 0 0 0.004007 0 0 QPCT 25797 broad.mit.edu 37 2 37594376 37594376 + Missense_Mutation SNP C C G rs151306583 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:37594376C>G uc002rqg.2 + 4 670 c.548C>G c.(547-549)ACT>AGT p.T183S QPCT_uc002rqh.2_Missense_Mutation_p.T134S NM_012413 NP_036545 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase precursor 183 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1) 1 Ovarian(717;0.051)|all_hematologic(82;0.21) TTTTACCAGACTGTTTCAGAC 0.363 NA 11 76 0 0 0.001855 0 0 CCDC88A 55704 broad.mit.edu 37 2 55646180 55646180 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:55646180C>G uc002ryv.2 - 1 878 c.36G>C c.(34-36)CAG>CAC p.Q12H CCDC88A_uc010yoz.1_Missense_Mutation_p.Q12H|CCDC88A_uc010ypa.1_Missense_Mutation_p.Q12H|CCDC88A_uc010fbz.2_RNA NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 12 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TGGTCATGAACTGCTCCAGAA 0.423 NA 11 36 0 0 0.001855 0 0 C2orf65 130951 broad.mit.edu 37 2 74834325 74834325 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:74834325C>T uc002smy.2 - 4 569 c.452G>A c.(451-453)GGA>GAA p.G151E C2orf65_uc010ysa.1_Missense_Mutation_p.G151E|C2orf65_uc002smz.2_Missense_Mutation_p.G151E NM_138804 NP_620159 Q8TC57 CB065_HUMAN hypothetical protein LOC130951 151 chromatin assembly|female gamete generation|RNA processing|spermatogenesis integral to membrane ovary(1)|pancreas(1) 2 CACCTCTTTTCCAGGCTGAGA 0.443 NA 6 70 0 0 0.001168 0 0 REV1 51455 broad.mit.edu 37 2 100019435 100019435 + Missense_Mutation SNP T T G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:100019435T>G uc002tad.2 - 20 3513 c.3301A>C c.(3301-3303)ACT>CCT p.T1101P REV1_uc002tac.2_Missense_Mutation_p.T1100P NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 1101 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 CCTGGCAGAGTTTTTGCAGGA 0.383 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 8 66 0 0 0.00308 0 0 LIMS1 3987 broad.mit.edu 37 2 109292448 109292448 + Silent SNP C C T rs111779374 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:109292448C>T uc002teg.2 + 6 728 c.609C>T c.(607-609)CGC>CGT p.R203R LIMS1_uc002tef.2_Silent_p.R215R|LIMS1_uc002teh.2_Silent_p.R203R|LIMS1_uc002tei.2_Silent_p.R203R|LIMS1_uc002tej.2_Silent_p.R240R|LIMS1_uc002tek.3_Silent_p.R265R NM_004987 NP_004978 P48059 LIMS1_HUMAN LIM and senescent cell antigen-like domains 1 203 LIM zinc-binding 4. cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent cytosol|focal adhesion|perinuclear region of cytoplasm protein binding|zinc ion binding 0 TCGAAGGGCGCGTGGTGAACG 0.537 NA 8 35 0 0 0.00308 0 0 POTEF 728378 broad.mit.edu 37 2 130832520 130832520 + Missense_Mutation SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:130832520A>T uc010fmh.2 - 17 2925 c.2525T>A c.(2524-2526)CTG>CAG p.L842Q NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 842 Actin-like. cell cortex ATP binding skin(3)|ovary(2) 5 AGAGGTGTACAGGGACAGCAC 0.587 NA 41 428 0 0 0.009718 0 0 KIAA1486 57624 broad.mit.edu 37 2 226446708 226446708 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:226446708C>A uc002voe.2 + 4 750 c.575C>A c.(574-576)CCT>CAT p.P192H KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_5'UTR NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 192 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) AAGATTCCTCCTCCCAAACCG 0.473 NA 32 161 3.99451e-17 5.52511e-17 0.009535 1 0 UGT1A1 54658 broad.mit.edu 37 2 234669637 234669637 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:234669637C>T uc002vvb.2 + 1 719 c.704C>T c.(703-705)TCA>TTA p.S235L UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.S235L NM_000463 NP_000454 P22309 UD11_HUMAN UDP glycosyltransferase 1 family, polypeptide A1 235 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding central_nervous_system(1)|skin(1) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) ACCCTTGCCTCAGAATTCCTT 0.493 NA 9 157 0 0 0.004482 0 0 TRPM8 79054 broad.mit.edu 37 2 234871956 234871956 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr2:234871956C>G uc002vvh.2 + 13 1724 c.1684C>G c.(1684-1686)CAA>GAA p.Q562E TRPM8_uc010fyj.2_Missense_Mutation_p.Q250E NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 562 Cytoplasmic (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GCACCCCCTGCAAGCTCTCTT 0.502 NA 3 43 0 0 0.009096 0 0 TGM3 7053 broad.mit.edu 37 20 2293605 2293605 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr20:2293605G>T uc002wfx.3 + 5 699 c.602G>T c.(601-603)CGT>CTT p.R201L NM_003245 NP_003236 Q08188 TGM3_HUMAN transglutaminase 3 precursor 201 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity p.R201C(1)|p.R201H(1) large_intestine(4)|ovary(3)|breast(1)|skin(1) 9 L-Glutamine(DB00130) AATTTCCGCCGTGACGCTGCT 0.458 NA 11 78 0.000978159 0.00107235 0.010729 1 0 PAK7 57144 broad.mit.edu 37 20 9546635 9546635 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr20:9546635C>T uc002wnl.2 - 6 1932 c.1387G>A c.(1387-1389)GTA>ATA p.V463I PAK7_uc002wnk.2_Missense_Mutation_p.V463I|PAK7_uc002wnj.2_Missense_Mutation_p.V463I|PAK7_uc010gby.1_Missense_Mutation_p.V463I NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 463 Protein kinase.|ATP (By similarity). ATP binding|protein binding|protein serine/threonine kinase activity p.V463L(1) lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) GCGATGCATACGATGCCGGTT 0.522 NA 6 143 0 0 0.001984 0 0 HNF4A 3172 broad.mit.edu 37 20 43034755 43034755 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr20:43034755C>T uc002xma.2 + 2 262 c.173C>T c.(172-174)GCC>GTC p.A58V HNF4A_uc010zwo.1_Missense_Mutation_p.P49S|HNF4A_uc002xlt.2_Missense_Mutation_p.A36V|HNF4A_uc002xlu.2_Missense_Mutation_p.A36V|HNF4A_uc002xlv.2_Missense_Mutation_p.A36V|HNF4A_uc002xly.2_Missense_Mutation_p.A58V|HNF4A_uc002xlz.2_Missense_Mutation_p.A58V|HNF4A_uc010ggq.2_Missense_Mutation_p.A51V NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 58 Nuclear receptor. blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGTGTCAGCGCCCTGTGTGCC 0.632 Colon(79;2 1269 8820 14841 52347) NA 37 133 0 0 0.004878 0 0 SALL4 57167 broad.mit.edu 37 20 50407055 50407055 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr20:50407055G>A uc002xwh.3 - 2 2068 c.1967C>T c.(1966-1968)ACG>ATG p.T656M SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 656 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TGGCAGGGGCGTGTTGGGAAT 0.547 NA 5 64 0 0 0.001168 0 0 ZNF831 128611 broad.mit.edu 37 20 57766574 57766574 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr20:57766574C>T uc002yan.2 + 1 500 c.500C>T c.(499-501)ACG>ATG p.T167M NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 167 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CGGTCCCACACGGGTGAGAGG 0.612 NA 8 158 0 0 0.00308 0 0 PHACTR3 116154 broad.mit.edu 37 20 58349347 58349347 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr20:58349347C>T uc002yau.2 + 7 1443 c.976C>T c.(976-978)CGT>TGT p.R326C PHACTR3_uc002yat.2_Missense_Mutation_p.R323C|PHACTR3_uc010zzw.1_Missense_Mutation_p.R285C|PHACTR3_uc002yav.2_Missense_Mutation_p.R285C|PHACTR3_uc002yaw.2_Missense_Mutation_p.R285C|PHACTR3_uc002yax.2_Missense_Mutation_p.R215C NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 326 nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GCTGGATGTCCGTCTGTCGAG 0.532 NA 3 60 0 0 0.004672 0 0 DIDO1 11083 broad.mit.edu 37 20 61513083 61513083 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr20:61513083C>T uc002ydr.1 - 16 4489 c.4225G>A c.(4225-4227)GAG>AAG p.E1409K DIDO1_uc002yds.1_Missense_Mutation_p.E1409K NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1409 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CTTTCCACCTCGTGGCGCCGC 0.602 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) NA 13 108 0 0 0.00245 0 0 PARVG 64098 broad.mit.edu 37 22 44585089 44585089 + Silent SNP C C A rs149519388 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr22:44585089C>A uc011aqe.1 + 6 767 c.343C>A c.(343-345)CGG>AGG p.R115R PARVG_uc003bep.2_Silent_p.R115R|PARVG_uc011aqf.1_Silent_p.R115R|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA NM_001137605 NP_001131077 Q9HBI0 PARVG_HUMAN parvin, gamma 115 CH 1. cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding 0 Ovarian(80;0.024)|all_neural(38;0.0299) GGCCGTGAACCGGAGTCTGCA 0.647 NA 11 42 3.86212e-05 4.43096e-05 0.008291 1 0 KCNH8 131096 broad.mit.edu 37 3 19575248 19575248 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr3:19575248C>T uc003cbk.1 + 16 3176 c.2981C>T c.(2980-2982)TCA>TTA p.S994L KCNH8_uc010hex.1_Missense_Mutation_p.S455L NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 994 Ser-rich.|Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 CTTGATTATTCACCTTCCCAC 0.478 NSCLC(124;1625 1765 8018 24930 42026) NA 20 112 0 0 0.007413 0 0 MYLK 4638 broad.mit.edu 37 3 123337498 123337498 + Missense_Mutation SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr3:123337498A>T uc003ego.2 - 33 5770 c.5488T>A c.(5488-5490)TGC>AGC p.C1830S uc003egk.2_Intron|MYLK_uc003egl.2_Missense_Mutation_p.C70S|MYLK_uc003egm.2_Missense_Mutation_p.C69S|MYLK_uc010hrr.2_Missense_Mutation_p.C265S|MYLK_uc011bjv.1_Missense_Mutation_p.C630S|MYLK_uc011bjw.1_Missense_Mutation_p.C1829S|MYLK_uc003egp.2_Missense_Mutation_p.C1761S|MYLK_uc003egq.2_Missense_Mutation_p.C1779S|MYLK_uc003egr.2_Missense_Mutation_p.C1710S|MYLK_uc003egs.2_Missense_Mutation_p.C1654S NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1830 Ig-like C2-type 9. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCAATCTTGCAGTCAAATCTA 0.473 NA 9 88 0 0 0.010729 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr3:178936082G>A uc003fjk.2 + 10 1781 c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 PI3K helical. E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333 Colon(199;1504 1750 3362 26421 31210 32040) E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 9 27 0 0 0.010729 0 0 MUC4 4585 broad.mit.edu 37 3 195515885 195515885 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr3:195515885C>T uc011bto.1 - 2 3026 c.2566G>A c.(2566-2568)GCC>ACC p.A856T MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.A738T NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 861 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACTGGGATGGCACCATGACTG 0.577 NA 6 45 0 0 0.001984 0 0 BTC 685 broad.mit.edu 37 4 75673268 75673268 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr4:75673268C>G uc003hig.2 - 5 867 c.520G>C c.(520-522)GAG>CAG p.E174Q NM_001729 NP_001720 P35070 BTC_HUMAN betacellulin precursor 174 Cytoplasmic (Potential). positive regulation of cell division|positive regulation of cell proliferation extracellular space|integral to membrane|plasma membrane|soluble fraction epidermal growth factor receptor binding|growth factor activity central_nervous_system(1)|skin(1) 2 Lung(101;0.219) ATATTTGTCTCTTCAATATCT 0.338 NA 3 52 0 0 0.004672 0 0 FAM190A 401145 broad.mit.edu 37 4 91230499 91230499 + Missense_Mutation SNP T T A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr4:91230499T>A uc003hsv.3 + 2 1404 c.1064T>A c.(1063-1065)CTA>CAA p.L355Q FAM190A_uc003hsu.3_Missense_Mutation_p.L355Q|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.L355Q NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 355 large_intestine(1)|ovary(1) 2 ATTGCTGAACTACCTGCTACA 0.408 NA 15 53 0 0 0.00499 0 0 PAPSS1 9061 broad.mit.edu 37 4 108578069 108578069 + Missense_Mutation SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr4:108578069A>T uc003hyk.2 - 7 962 c.878T>A c.(877-879)TTT>TAT p.F293Y PAPSS1_uc011cfh.1_RNA NM_005443 NP_005434 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 293 Adenylyl-sulfate kinase. 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) AAGACAATCAAAATGAAGGCA 0.393 NA 16 48 0 0 0.00499 0 0 SLC45A2 51151 broad.mit.edu 37 5 33964049 33964049 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr5:33964049C>A uc003jid.2 - 3 727 c.635G>T c.(634-636)GGT>GTT p.G212V SLC45A2_uc003jie.2_Missense_Mutation_p.G212V|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 212 Extracellular (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GAATTCTGTACCCAACAGTCT 0.473 Ovarian(31;380 859 8490 22203 49048) NA 14 47 3.27435e-08 4.03837e-08 0.00245 1 0 C5orf44 80006 broad.mit.edu 37 5 64960080 64960080 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr5:64960080C>A uc003jtz.3 + 12 1345 c.1015C>A c.(1015-1017)CTG>ATG p.L339M C5orf44_uc003jua.3_Missense_Mutation_p.L340M|C5orf44_uc003juc.3_Missense_Mutation_p.L333M|C5orf44_uc010iwv.2_Missense_Mutation_p.L334M NM_024941 NP_079217 A5PLN9 CE044_HUMAN hypothetical protein LOC80006 isoform 2 339 ovary(1) 1 GACTATGGATCTGGTTTTGGA 0.413 NA 24 115 8.24728e-16 1.13018e-15 0.004656 1 0 PCDHA11 56138 broad.mit.edu 37 5 140249937 140249937 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr5:140249937G>A uc003lia.2 + 1 2107 c.1249G>A c.(1249-1251)GTG>ATG p.V417M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.V417M NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 417 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCGAGAACGTGTGGGCCTA 0.622 NA 12 176 0 0 0.013537 0 0 UNC5A 90249 broad.mit.edu 37 5 176301080 176301080 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr5:176301080G>T uc003mey.2 + 7 1190 c.998G>T c.(997-999)GGG>GTG p.G333V UNC5A_uc010jkg.1_Missense_Mutation_p.G293V NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 333 Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGAAGGAGGGGCTGGACTCA 0.632 NA 8 39 5.4927e-09 7.00793e-09 0.004482 1 0 UNC5A 90249 broad.mit.edu 37 5 176304986 176304986 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr5:176304986G>A uc003mey.2 + 11 1919 c.1727G>A c.(1726-1728)GGC>GAC p.G576D NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 576 Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGCAGCTGGGCCGCTTTGCC 0.667 NA 15 36 0 0 0.00245 0 0 RMND5B 64777 broad.mit.edu 37 5 177571094 177571094 + Missense_Mutation SNP C C G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr5:177571094C>G uc003mim.2 + 7 859 c.679C>G c.(679-681)CGG>GGG p.R227G RMND5B_uc003min.2_Missense_Mutation_p.R227G|RMND5B_uc003mio.2_Missense_Mutation_p.R214G|RMND5B_uc003mip.2_Missense_Mutation_p.R227G|RMND5B_uc011dgf.1_Missense_Mutation_p.R268G|RMND5B_uc003miq.2_Missense_Mutation_p.R167G NM_022762 NP_073599 Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog 227 ovary(1)|skin(1) 2 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCCTTTGCTCGGCTGCACCA 0.637 NA 5 67 0 0 0.000602 0 0 GRM4 2914 broad.mit.edu 37 6 34029800 34029800 + Missense_Mutation SNP C C T rs144674222 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr6:34029800C>T uc003oir.3 - 3 912 c.742G>A c.(742-744)GTG>ATG p.V248M GRM4_uc011dsn.1_Missense_Mutation_p.V248M|GRM4_uc010jvh.2_Missense_Mutation_p.V248M|GRM4_uc010jvi.2_Translation_Start_Site|GRM4_uc003oio.2_Translation_Start_Site|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.V108M|GRM4_uc003oiq.2_Missense_Mutation_p.V115M|GRM4_uc011dsm.1_Missense_Mutation_p.V79M NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 248 Extracellular (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) GCGATGCACACGCCCCCTGCA 0.642 NA 6 51 0 0 0.00308 0 0 GFRAL 389400 broad.mit.edu 37 6 55196548 55196548 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr6:55196548C>A uc003pcm.1 + 2 144 c.58C>A c.(58-60)CAA>AAA p.Q20K NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 20 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATACACTTCCCAAACCAATAA 0.348 NA 3 31 6.4e-05 7.28615e-05 0.004672 1 0 EYS 346007 broad.mit.edu 37 6 66204723 66204723 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr6:66204723C>A uc011dxu.1 - 4 1119 c.581G>T c.(580-582)TGG>TTG p.W194L EYS_uc003peq.2_Missense_Mutation_p.W194L|EYS_uc003per.1_Missense_Mutation_p.W194L|EYS_uc010kaj.1_RNA NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 194 EGF-like 1. response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 TGTCTTGCTCCAAGCTTCACT 0.418 NA 5 20 3.59834e-05 4.19334e-05 0.001168 1 0 STXBP5 134957 broad.mit.edu 37 6 147581750 147581750 + Splice_Site SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr6:147581750G>T uc003qlz.2 + 5 593 c.432_splice c.e5-1 p.R144_splice STXBP5_uc010khz.1_Splice_Site_p.R144_splice|STXBP5_uc003qlx.2_Splice_Site|STXBP5_uc003qly.2_Splice_Site NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TTCTCTTGCAGGGTTACATTT 0.353 NA 7 32 0.00198382 0.00211227 0.001984 1 0 PDE1C 5137 broad.mit.edu 37 7 31862712 31862712 + Silent SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr7:31862712C>T uc003tcm.1 - 14 2026 c.1557G>A c.(1555-1557)GAG>GAA p.E519E PDE1C_uc003tcn.1_Silent_p.E519E|PDE1C_uc003tco.1_Silent_p.E579E|PDE1C_uc003tcr.2_Silent_p.E519E|PDE1C_uc003tcs.2_Silent_p.E519E NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 519 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) CCCTCCATCTCTCCCGATTGA 0.468 NA 12 136 0 0 0.003163 0 0 BMPER 168667 broad.mit.edu 37 7 34125511 34125511 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr7:34125511G>T uc011kap.1 + 13 1666 c.1552G>T c.(1552-1554)GAT>TAT p.D518Y NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 518 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 CTTCAAGTTTGATGTGGATGA 0.483 NA 17 72 3.32936e-07 4.03889e-07 0.006122 1 0 CAMK2B 816 broad.mit.edu 37 7 44298523 44298523 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr7:44298523G>A uc003tkq.2 - 4 433 c.223C>T c.(223-225)CGT>TGT p.R75C CAMK2B_uc003tkp.2_Missense_Mutation_p.R75C|CAMK2B_uc003tkx.2_Missense_Mutation_p.R75C|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.R75C|CAMK2B_uc003tks.2_Missense_Mutation_p.R75C|CAMK2B_uc003tku.2_Missense_Mutation_p.R75C|CAMK2B_uc003tkv.2_Missense_Mutation_p.R75C|CAMK2B_uc003tkt.2_Missense_Mutation_p.R75C|CAMK2B_uc003tkw.2_Missense_Mutation_p.R75C|CAMK2B_uc010kyc.2_Missense_Mutation_p.R75C NM_001220 NP_001211 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II 75 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1)|ovary(1) 2 TCGTGGAGACGCACTGTGGGG 0.612 NA 8 13 0 0 0.004482 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658037 72658037 + Missense_Mutation SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr7:72658037A>G uc003txs.1 - 13 1875 c.947T>C c.(946-948)CTC>CCC p.L316P FKBP6_uc003twz.2_Intron NR_002164 RecName: Full=General transcription factor II-I repeat domain-containing protein 2B; AltName: Full=GTF2I repeat domain-containing protein 2B; AltName: Full=Transcription factor GTF2IRD2-beta; 0 gtagtacaggaggctaccata 0 NA 8 70 0 0 0.006214 0 0 MET 4233 broad.mit.edu 37 7 116412044 116412044 + Splice_Site SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr7:116412044G>A uc003vij.2 + 14 3215 c.3028_splice c.e14+1 p.D1010_splice MET_uc010lkh.2_Splice_Site_p.D1028_splice|MET_uc011knj.1_Splice_Site_p.D580_splice NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.982_1028del47(4)|p.?(2) upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TTTCCAGAAGGTATATTTCAG 0.343 NA Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 8 22 0 0 0.004482 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672764 141672764 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr7:141672764G>T uc003vwx.1 - 1 810 c.726C>A c.(724-726)CAC>CAA p.H242Q NM_176817 NP_789787 P59533 T2R38_HUMAN taste receptor, type 2, member 38 242 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|skin(1) 2 Melanoma(164;0.0171) GGGCTTTAATGTGGGCCTCCA 0.507 NA 16 50 2.31682e-05 2.72135e-05 0.003163 1 0 OR2F1 26211 broad.mit.edu 37 7 143657663 143657663 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr7:143657663G>T uc003wds.1 + 1 644 c.600G>T c.(598-600)ATG>ATT p.M200I NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 200 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) TCACCATCATGGTGTCTAGCA 0.473 NA 19 74 8.34094e-07 9.95531e-07 0.008871 1 0 DEFA4 1669 broad.mit.edu 37 8 6793542 6793542 + Nonstop_Mutation SNP T T A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr8:6793542T>A uc003wqu.1 - 3 345 c.294A>T c.(292-294)TAA>TAT p.*98Y NM_001925 NP_001916 P12838 DEF4_HUMAN defensin, alpha 4 preproprotein 98 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space large_intestine(1) 1 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CAGCAGAACGTTAATCGACAC 0.488 NA 13 93 0 0 0.003163 0 0 WRN 7486 broad.mit.edu 37 8 30938527 30938527 + Silent SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr8:30938527A>T uc003xio.3 + 9 1772 c.984A>T c.(982-984)GTA>GTT p.V328V WRN_uc011lbd.1_Silent_p.V31V|WRN_uc011lbe.1_5'Flank NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 328 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTGGGGGAGTACAACAGAAAC 0.368 Ovarian(18;161 598 2706 14834 27543) NA Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 6 37 0 0 0.001984 0 0 PREX2 80243 broad.mit.edu 37 8 69021837 69021837 + Missense_Mutation SNP T T C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr8:69021837T>C uc003xxv.1 + 25 3152 c.3125T>C c.(3124-3126)ATG>ACG p.M1042T PREX2_uc011lez.1_Missense_Mutation_p.M977T NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1042 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GAGGTGGAGATGTGTGTTTGT 0.363 NA 12 37 0 0 0.013537 0 0 C8orf34 116328 broad.mit.edu 37 8 69351791 69351791 + Missense_Mutation SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr8:69351791G>A uc010lyz.2 + 2 176 c.127G>A c.(127-129)GAC>AAC p.D43N C8orf34_uc010lyx.1_Missense_Mutation_p.D43N|C8orf34_uc010lyy.1_Missense_Mutation_p.D43N|C8orf34_uc003xyb.2_Missense_Mutation_p.D18N NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 43 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) ATTTCTCATTGACCATCTTCA 0.388 NA 4 29 0 0 0.000602 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814552 106814552 + Nonsense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr8:106814552G>T uc003ymd.2 + 8 2265 c.2242G>T c.(2242-2244)GAG>TAG p.E748* ZFPM2_uc011lhs.1_Nonsense_Mutation_p.E479* NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 748 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GTGCCTACCTGAGCAGGAACA 0.522 NA 4 23 0.00024832 0.000276326 0.009096 1 0 TRIB1 10221 broad.mit.edu 37 8 126445584 126445584 + Missense_Mutation SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr8:126445584A>T uc003yrx.2 + 2 968 c.386A>T c.(385-387)GAC>GTC p.D129V TRIB1_uc011lis.1_5'UTR|TRIB1_uc010mdn.2_5'Flank NM_025195 NP_079471 Q96RU8 TRIB1_HUMAN G-protein-coupled receptor induced protein 129 Protein kinase. JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity lung(1) 1 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) CACTACCAGGACAAAATCAGG 0.512 NA 30 245 0 0 0.003271 0 0 DOCK8 81704 broad.mit.edu 37 9 371489 371489 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr9:371489C>T uc003zgf.2 + 17 2042 c.1930C>T c.(1930-1932)CAC>TAC p.H644Y DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.H576Y|DOCK8_uc010mgw.1_Intron|DOCK8_uc003zgk.2_Missense_Mutation_p.H102Y|DOCK8_uc003zgh.2_RNA NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 644 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) AGTAAATCACCACCTCCTGTT 0.438 NA 5 65 0 0 0.001168 0 0 LOC442421 442421 broad.mit.edu 37 9 66499891 66499891 + Missense_Mutation SNP T T C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr9:66499891T>C uc004aee.1 + 1 701 c.701T>C c.(700-702)ATG>ACG p.M234T LOC442421_uc004aed.1_RNA Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). 0 ACCATCGCCATGTACATGAAG 0.572 NA 4 23 0 0 0.013537 0 0 LOC442421 442421 broad.mit.edu 37 9 66499904 66499904 + Silent SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr9:66499904C>T uc004aee.1 + 1 714 c.714C>T c.(712-714)GGC>GGT p.G238G LOC442421_uc004aed.1_RNA Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). 0 ACATGAAGGGCGGGTAACCTG 0.542 NA 6 19 0 0 0.001855 0 0 COL15A1 1306 broad.mit.edu 37 9 101787221 101787221 + Silent SNP T T A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr9:101787221T>A uc004azb.1 + 15 2126 c.1920T>A c.(1918-1920)GTT>GTA p.V640V NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 640 Triple-helical region 2 (COL2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) GAACTGATGTTTTCATGGGAC 0.567 NA 11 45 0 0 0.008291 0 0 OR1K1 392392 broad.mit.edu 37 9 125562995 125562995 + Silent SNP G G A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr9:125562995G>A uc011lze.1 + 1 594 c.594G>A c.(592-594)CTG>CTA p.L198L NM_080859 NP_543135 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, 198 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ACATCCAGCTGCTCATCTTCA 0.617 NA 13 78 0 0 0.001855 0 0 C9orf116 138162 broad.mit.edu 37 9 138391685 138391685 + Missense_Mutation SNP A A C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr9:138391685A>C uc004cft.1 - 1 77 c.13T>G c.(13-15)TGC>GGC p.C5G C9orf116_uc004cfs.1_Missense_Mutation_p.C5G|C9orf116_uc004cfu.1_RNA|MRPS2_uc004cfv.3_5'Flank|MRPS2_uc004cfw.3_5'Flank|MRPS2_uc004cfx.3_5'Flank|MRPS2_uc010nat.2_5'Flank NM_001048265 NP_001041730 Q5BN46 CI116_HUMAN hypothetical protein LOC138162 isoform 1 5 0 OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05) GCTCTGGGGCATTCCTCAGCC 0.706 NA 2 12 0 0 0.004672 0 0 ASMT 438 broad.mit.edu 37 X 1746614 1746614 + Silent SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:1746614C>T uc004cqd.2 + 5 538 c.393C>T c.(391-393)TAC>TAT p.Y131Y ASMT_uc010ncy.2_Silent_p.Y131Y|ASMT_uc004cqe.2_Silent_p.Y131Y NM_004043 NP_004034 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 131 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity skin(1) 1 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGAACCAGTACCTGGAGACGT 0.313 NA 15 157 0 0 0.00245 0 0 FAM9A 171482 broad.mit.edu 37 X 8759376 8759376 + Missense_Mutation SNP A A T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:8759376A>T uc004csg.2 - 9 1086 c.975T>A c.(973-975)AGT>AGA p.S325R NM_174951 NP_777611 Q8IZU1 FAM9A_HUMAN family with sequence similarity 9, member A 325 nucleolus 0 Hepatocellular(5;0.219) CACTTTCTTCACTGGAAGAAA 0.343 NA 4 24 0 0 0.009096 0 0 SRPX 8406 broad.mit.edu 37 X 38020261 38020261 + Missense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:38020261C>A uc004ddy.1 - 6 786 c.700G>T c.(700-702)GAC>TAC p.D234Y SRPX_uc004ddz.1_Missense_Mutation_p.D214Y|SRPX_uc011mkh.1_Missense_Mutation_p.D175Y|SRPX_uc011mki.1_Missense_Mutation_p.D234Y NM_006307 NP_006298 P78539 SRPX_HUMAN sushi-repeat-containing protein, X-linked 234 HYR. cell adhesion cell surface|membrane 0 ATCTTGTGGTCTCCTTCTGGA 0.418 NA 8 52 0.000157383 0.00017646 0.00308 1 0 DGKK 139189 broad.mit.edu 37 X 50213490 50213491 + Missense_Mutation DNP GG GG TT TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:50213490_50213491GG>TT uc010njr.1 - 1 247_248 c.187_188CC>AA c.(187-189)CCA>AAA p.P63K NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 63 4.|33 X 4 AA approximate tandem repeats of E-P-A-P. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) ACAGGGACCTGGAGCAAGCTCT 0.297 NA 12 137 0 0 0.004672 0 0 ERCC6L 54821 broad.mit.edu 37 X 71424945 71424945 + Silent SNP A A G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:71424945A>G uc004eaq.1 - 2 3769 c.3672T>C c.(3670-3672)GTT>GTC p.V1224V PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Silent_p.V1101V NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN excision repair protein ERCC6-like 1224 TPR 2. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding ovary(3) 3 Renal(35;0.156) CAAGCGCTTTAACTAAGCAGT 0.373 NA 4 45 0 0 0.009096 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177188 89177188 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:89177188G>T uc004efe.2 + 2 153 c.104G>T c.(103-105)AGA>ATA p.R35I NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 35 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 ATCATGTCGAGAAATAACGCA 0.582 NA 10 42 2.80697e-09 3.61245e-09 0.010729 1 0 TRPC5 7224 broad.mit.edu 37 X 111195485 111195485 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:111195485G>T uc004epl.1 - 2 1083 c.164C>A c.(163-165)GCT>GAT p.A55D TRPC5_uc004epm.1_Missense_Mutation_p.A55D NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 55 Cytoplasmic (Potential).|ANK 1. axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 GTAGATCTCAGCCTCCTGAAG 0.532 NA 7 91 8.12818e-05 9.18299e-05 0.001984 1 0 MAGEC2 51438 broad.mit.edu 37 X 141290803 141290803 + Missense_Mutation SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:141290803G>T uc004fbu.1 - 3 1319 c.971C>A c.(970-972)ACT>AAT p.T324N NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 324 MAGE. cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) ACTAGGAACAGTGTTGTTCAG 0.453 NA HNSCC(46;0.14) 27 103 2.79863e-10 3.69819e-10 0.004656 1 0 MAMLD1 10046 broad.mit.edu 37 X 149638205 149638205 + Silent SNP G G T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:149638205G>T uc004fee.1 + 3 436 c.360G>T c.(358-360)GCG>GCT p.A120A MAMLD1_uc011mxt.1_Silent_p.A82A|MAMLD1_uc011mxu.1_Silent_p.A95A|MAMLD1_uc011mxv.1_Silent_p.A95A|MAMLD1_uc011mxw.1_Silent_p.A47A NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 120 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) CTAGCCCTGCGGCTATGGGAG 0.512 NA 14 104 2.62699e-14 3.56692e-14 0.003163 1 0 MAGEA10 4109 broad.mit.edu 37 X 151303721 151303721 + Silent SNP T T C TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:151303721T>C uc004ffk.2 - 5 780 c.372A>G c.(370-372)CCA>CCG p.P124P MAGEA10_uc004ffl.2_Silent_p.P124P NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 124 0 Acute lymphoblastic leukemia(192;6.56e-05) ACTCACTGTCTGGCAGGACCT 0.502 NA 18 149 0 0 0.006122 0 0 GABRQ 55879 broad.mit.edu 37 X 151815621 151815621 + Nonsense_Mutation SNP C C A TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:151815621C>A uc004ffp.1 + 4 539 c.519C>A c.(517-519)TAC>TAA p.Y173* NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 173 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CGGTGCGGTACGGCATCCGGT 0.517 NA 5 49 5.9392e-07 7.14635e-07 0.001168 1 0 MAGEA12 4111 broad.mit.edu 37 X 151900386 151900386 + Missense_Mutation SNP C C T TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chrX:151900386C>T uc010ntp.2 - 3 769 c.415G>A c.(415-417)GTC>ATC p.V139I MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.V139I|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank NM_005367 NP_005358 P43365 MAGAC_HUMAN melanoma antigen family A, 12 139 MAGE. skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TTTCTGATGACACTCCCCAGC 0.502 NA 16 181 0 0 0.00499 0 0 CEP290 80184 broad.mit.edu 37 12 88512304 88512305 + Frame_Shift_Ins INS - - T rs77980773 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr12:88512304_88512305insT uc001tar.2 - 17 2010_2011 c.1666_1667insA c.(1666-1668)ATTfs p.I556fs CEP290_uc001tat.2_Frame_Shift_Ins_p.I318fs|CEP290_uc009zsl.1_RNA NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 556 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 CATTTGACGAATTTTTTTTTTC 0.312 NA 2 4 --- --- --- --- NA NA NA NA NA SPRY2 10253 broad.mit.edu 37 13 80911047 80911048 + In_Frame_Ins INS - - TTT TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr13:80911047_80911048insTTT uc001vli.2 - 2 1771_1772 c.793_794insAAA c.(793-795)TGT>TAAAGT p.265_265C>*S SPRY2_uc001vlj.2_In_Frame_Ins_p.265_265C>*S NM_005842 NP_005833 O43597 SPY2_HUMAN sprouty 2 265 SPR.|Cys-rich. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity ovary(1)|lung(1) 2 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) ACACCATAAACAAGGCAAAAAG 0.49 NA 10 62 --- --- --- --- NA NA NA NA NA IRX3 79191 broad.mit.edu 37 16 54319061 54319062 + Frame_Shift_Ins INS - - C rs140590187 TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36be8d78-9b00-4ca6-8cf6-ad665d32ccfe c63facd4-bde2-440b-b37a-a5a67576d597 g.chr16:54319061_54319062insC uc002eht.1 - 2 1147_1148 c.731_732insG c.(730-732)GGCfs p.G244fs NM_024336 NP_077312 P78415 IRX3_HUMAN iroquois homeobox 3 244 Asp/Glu-rich (acidic). multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 cgtcagccaggccctcgccccc 0.307 GBM(143;1830 1866 4487 4646 37383) NA 4 9 --- --- --- --- NA NA NA NA NA