Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut CASZ1 54897 broad.mit.edu 37 1 10714479 10714479 + Missense_Mutation SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr1:10714479C>T uc001aro.2 - 10 2155 c.1835G>A c.(1834-1836)TGC>TAC p.C612Y CASZ1_uc001arp.1_Missense_Mutation_p.C612Y|CASZ1_uc009vmx.2_Missense_Mutation_p.C636Y NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 612 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CGCTTACCTGCAGTGGAAGTG 0.652 NA 24 51 0 0 0 0 LOC440563 440563 broad.mit.edu 37 1 13183372 13183373 + Missense_Mutation DNP CC CC AA TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr1:13183372_13183373CC>AA uc010obg.1 - 1 595_596 c.500_501GG>TT c.(499-501)CGG>CTT p.R167L NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN heterogeneous nuclear ribonucleoprotein C-like 167 ribonucleoprotein complex nucleic acid binding|nucleotide binding 0 TGGAAGATCCCCGCTTTCCACT 0.495 NA 17 813 0 0 0 0 SERBP1 26135 broad.mit.edu 37 1 67895933 67895933 + Missense_Mutation SNP G G C TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr1:67895933G>C uc001ddv.2 - 1 191 c.51C>G c.(49-51)TTC>TTG p.F17L SERBP1_uc001ddx.2_Missense_Mutation_p.F17L|SERBP1_uc001ddy.2_Missense_Mutation_p.F17L|SERBP1_uc001ddw.2_Missense_Mutation_p.F17L NM_001018067 NP_001018077 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 isoform 1 17 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding skin(1) 1 ATAACTGGTCGAATCGGTTGG 0.642 NA 51 42 0 0 0 0 PLEKHO1 51177 broad.mit.edu 37 1 150129105 150129105 + Missense_Mutation SNP G G T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr1:150129105G>T uc001ett.2 + 4 597 c.319G>T c.(319-321)GCA>TCA p.A107S PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_5'UTR|PLEKHO1_uc001etu.2_5'UTR NM_016274 NP_057358 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O 107 PH. cytoplasm|nucleus|plasma membrane lung(1) 1 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CCCCTCACAGGCACCCAACCT 0.478 NA 10 64 3.07e-06 2.22e-05 1 0 USP6NL 9712 broad.mit.edu 37 10 11505354 11505354 + Missense_Mutation SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr10:11505354C>T uc001ikt.3 - 15 1894 c.1573G>A c.(1573-1575)GTG>ATG p.V525M USP6NL_uc001iks.1_Missense_Mutation_p.V542M NM_014688 NP_055503 Q92738 US6NL_HUMAN USP6 N-terminal like isoform 1 525 intracellular Rab GTPase activator activity 0 GACACCCGCACCTCGGCAGGA 0.622 NA 50 131 0 0 0 0 BLNK 29760 broad.mit.edu 37 10 97987176 97987176 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr10:97987176G>A uc001kls.3 - 5 529 c.351C>T c.(349-351)GGC>GGT p.G117G BLNK_uc001kme.3_Silent_p.G35G|BLNK_uc001klt.3_Splice_Site_p.D35_splice|BLNK_uc009xvc.2_Intron|BLNK_uc001klu.3_Silent_p.G35G|BLNK_uc001klv.3_Splice_Site_p.G117_splice|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Silent_p.G117G|BLNK_uc001kly.3_Silent_p.G117G|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Silent_p.G117G|BLNK_uc001kmb.3_Splice_Site|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Silent_p.G35G|BLNK_uc009xvd.2_RNA NM_013314 NP_037446 Q8WV28 BLNK_HUMAN B-cell linker isoform 1 117 Pro-rich. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(2) 2 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) CTATATACTCGCCTCTGGCGA 0.652 NA 35 61 0 0 0 0 NRAP 4892 broad.mit.edu 37 10 115391662 115391662 + Missense_Mutation SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr10:115391662G>A uc001laj.2 - 17 1858 c.1694C>T c.(1693-1695)GCC>GTC p.A565V NRAP_uc009xyb.2_5'Flank|NRAP_uc001lak.2_Missense_Mutation_p.A530V|NRAP_uc001lal.3_Missense_Mutation_p.A565V NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 565 Nebulin 13. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CAGAGACATGGCATCCAGCTT 0.448 NA 53 74 0 0 0 0 PCNXL3 399909 broad.mit.edu 37 11 65402557 65402557 + Missense_Mutation SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr11:65402557C>T uc001oey.2 + 30 4919 c.4919C>T c.(4918-4920)GCG>GTG p.A1640V PCNXL3_uc001oez.2_Missense_Mutation_p.A527V NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 1640 integral to membrane 0 CGCGTTGTGGCGCCTGGGGTT 0.647 NA 10 26 0 0 0 0 HEPACAM 220296 broad.mit.edu 37 11 124794765 124794765 + Missense_Mutation SNP G G C TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr11:124794765G>C uc001qbk.2 - 2 692 c.286C>G c.(286-288)CGA>GGA p.R96G HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Missense_Mutation_p.R96G NM_152722 NP_689935 Q14CZ8 HECAM_HUMAN hepatocyte cell adhesion molecule precursor 96 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane pancreas(1) 1 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) ATACGGTCTCGATAGTCAGGC 0.592 NA 45 74 0 0 0 0 ENO2 2026 broad.mit.edu 37 12 7025014 7025014 + Silent SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr12:7025014C>T uc001qru.1 + 2 240 c.18C>T c.(16-18)ATC>ATT p.I6I ENO2_uc009zfi.1_Silent_p.I6I|ENO2_uc010sfq.1_Silent_p.I6I|ENO2_uc001qrv.1_Silent_p.I6I NM_001975 NP_001966 P09104 ENOG_HUMAN enolase 2 6 gluconeogenesis|glycolysis phosphopyruvate hydratase complex|plasma membrane magnesium ion binding|phosphopyruvate hydratase activity 0 TAGAGAAGATCTGGGCCCGGG 0.577 NA 64 282 0 0 0 0 ADCY6 112 broad.mit.edu 37 12 49176996 49176996 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr12:49176996G>A uc001rsh.3 - 1 882 c.222C>T c.(220-222)GGC>GGT p.G74G ADCY6_uc001rsj.3_Silent_p.G74G|ADCY6_uc001rsi.3_Silent_p.G74G NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 74 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding 0 TGCCTGGGCCGCCCCTCCGGA 0.721 NA 22 35 0 0 0 0 DNAJC14 85406 broad.mit.edu 37 12 56182870 56182870 + Missense_Mutation SNP T T C rs138765992 TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr12:56182870T>C uc001shu.1 - 14 2595 c.2539A>G c.(2539-2541)ATC>GTC p.I847V SARNP_uc009zoa.2_RNA|SARNP_uc001shs.3_RNA|SARNP_uc001sht.2_Missense_Mutation_p.I164V NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN dopamine receptor interacting protein Error:Variant_position_missing_in_Q6Y2X3_after_alignment protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding ovary(3)|large_intestine(1) 4 TTTCTGGAGATTGAAGAGACA 0.368 NA 30 70 0 0 0 0 UBE3B 89910 broad.mit.edu 37 12 109972570 109972570 + Missense_Mutation SNP G G T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr12:109972570G>T uc001top.2 + 28 3793 c.3190G>T c.(3190-3192)GGC>TGC p.G1064C UBE3B_uc001toq.2_Missense_Mutation_p.G1064C|UBE3B_uc001tos.2_Missense_Mutation_p.G491C|UBE3B_uc001tot.2_Missense_Mutation_p.G182C|UBE3B_uc010sxp.1_3'UTR NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 1064 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 CATGAACACGGGCTTTGAACT 0.617 NA 5 91 0.000602214 0.00405856 1 0 FREM2 341640 broad.mit.edu 37 13 39262438 39262438 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr13:39262438G>A uc001uwv.2 + 1 1266 c.957G>A c.(955-957)AAG>AAA p.K319K NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 319 CSPG 1.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CTGCACCCAAGCCCAGTTTCG 0.607 NA 20 22 0 0 0 0 PKM2 5315 broad.mit.edu 37 15 72501133 72501133 + Missense_Mutation SNP G G A rs143294717 TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr15:72501133G>A uc002atx.1 - 6 906 c.665C>T c.(664-666)TCG>TTG p.S222L PKM2_uc002ats.1_5'Flank|PKM2_uc002att.1_5'UTR|PKM2_uc002atu.1_5'UTR|PKM2_uc010bit.1_Missense_Mutation_p.S227L|PKM2_uc010uki.1_Missense_Mutation_p.S296L|PKM2_uc002atv.1_Missense_Mutation_p.S257L|PKM2_uc002atw.1_Missense_Mutation_p.S222L|PKM2_uc002aty.1_Missense_Mutation_p.S222L|PKM2_uc010ukj.1_Missense_Mutation_p.S207L|PKM2_uc010ukk.1_Missense_Mutation_p.S148L|PKM2_uc010biu.1_Missense_Mutation_p.S243L|PKM2_uc002atz.1_RNA NM_182471 NP_872271 P14618 KPYM_HUMAN pyruvate kinase, muscle isoform M1 222 glycolysis|programmed cell death cytosol|nucleus|plasma membrane ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity breast(1) 1 Pyruvic acid(DB00119) GTCCTTCTCCGACACAGCAGG 0.547 NA 36 78 0 0 0 0 PRSS22 64063 broad.mit.edu 37 16 2905603 2905603 + Silent SNP G G T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr16:2905603G>T uc002cry.1 - 4 597 c.531C>A c.(529-531)ATC>ATA p.I177I PRSS22_uc002crz.1_Intron NM_022119 NP_071402 Q9GZN4 BSSP4_HUMAN protease, serine, 22 precursor 177 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1) 1 CCCAGCCTGAGATCCAGCAGT 0.602 NA 14 48 2.62e-11 1.94e-10 1 0 STAC2 342667 broad.mit.edu 37 17 37371437 37371437 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr17:37371437G>A uc002hrs.2 - 5 852 c.633C>T c.(631-633)GGC>GGT p.G211G STAC2_uc010cvt.2_Silent_p.G69G NM_198993 NP_945344 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 211 intracellular signal transduction metal ion binding pancreas(1) 1 CCAGGGAGGTGCCATAGCGCA 0.592 NA 32 59 0 0 0 0 LIPG 9388 broad.mit.edu 37 18 47101893 47101893 + Silent SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr18:47101893C>T uc002ldv.2 + 5 978 c.726C>T c.(724-726)TAC>TAT p.Y242Y LIPG_uc002ldu.1_Silent_p.Y242Y|LIPG_uc010xdh.1_Intron NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN endothelial lipase precursor 242 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity ovary(1)|skin(1) 2 TTGACATCTACCCCAATGGGG 0.507 NA 8 85 0 0 0 0 RPL36 25873 broad.mit.edu 37 19 5691333 5691333 + Missense_Mutation SNP C C G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr19:5691333C>G uc002mcv.2 + 3 166 c.97C>G c.(97-99)CTG>GTG p.L33V RPL36_uc002mcw.2_Missense_Mutation_p.L33V NM_033643 NP_378669 Q9Y3U8 RL36_HUMAN ribosomal protein L36 33 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|structural constituent of ribosome 0 CCCCTAGCGTCTGACCAAACA 0.602 NA OREG0025183 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 68 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9074800 9074800 + Missense_Mutation SNP T T G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr19:9074800T>G uc002mkp.2 - 3 12850 c.12646A>C c.(12646-12648)AGT>CGT p.S4216R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4218 Thr-rich.|Extracellular (Potential).|Ser-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGAGGTAAACTTGTGCCAGGT 0.498 NA 11 62 0 0 0 0 COL5A3 50509 broad.mit.edu 37 19 10077031 10077032 + Missense_Mutation DNP CC CC TT TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr19:10077031_10077032CC>TT uc002mmq.1 - 64 4826_4827 c.4740_4741GG>AA c.(4738-4743)GCGGGA>GCAAGA p.G1581R NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1581 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) GTCTCTCCTCCCGCCGTGAAGT 0.599 NA 19 26 0 0 0 0 NWD1 284434 broad.mit.edu 37 19 16902349 16902349 + Missense_Mutation SNP C C G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr19:16902349C>G uc002neu.3 + 14 3551 c.3129C>G c.(3127-3129)ATC>ATG p.I1043M NWD1_uc002net.3_Missense_Mutation_p.I908M|NWD1_uc002nev.3_Missense_Mutation_p.I837M Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 1043 ATP binding skin(3)|ovary(2)|pancreas(2) 7 TGTCCAGCATCAAAGAAGAAA 0.517 NA 34 69 0 0 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728546 20728546 + Missense_Mutation SNP G G C TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr19:20728546G>C uc002npa.2 - 4 643 c.463C>G c.(463-465)CAT>GAT p.H155D NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 155 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 GAAAATTTATGAATGACTTTC 0.308 NA 17 29 0 0 0 0 ZNF383 163087 broad.mit.edu 37 19 37733547 37733547 + Missense_Mutation SNP C C G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr19:37733547C>G uc002oft.1 + 8 989 c.409C>G c.(409-411)CAT>GAT p.H137D ZNF383_uc002ofs.1_Missense_Mutation_p.H72D|ZNF383_uc002ofu.1_Missense_Mutation_p.H137D NM_152604 NP_689817 Q8NA42 ZN383_HUMAN zinc finger protein 383 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCCAAATGGGCATTTTAGTCA 0.373 NA 49 109 0 0 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56732960 56732960 + Missense_Mutation SNP T T G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr19:56732960T>G uc002qmq.2 - 5 1641 c.1475A>C c.(1474-1476)GAA>GCA p.E492A ZSCAN5A_uc010ygi.1_Missense_Mutation_p.E375A|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.E492A|ZSCAN5A_uc002qms.1_Missense_Mutation_p.E491A NM_024303 NP_077279 Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 492 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 AGAAGTAGCTTCTGGATGTGT 0.433 NA 30 50 0 0 0 0 PRKD3 23683 broad.mit.edu 37 2 37505102 37505102 + Missense_Mutation SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr2:37505102C>T uc002rqd.2 - 8 1758 c.1203G>A c.(1201-1203)ATG>ATA p.M401I PRKD3_uc002rqe.1_Missense_Mutation_p.M1I|PRKD3_uc002rqf.1_Missense_Mutation_p.M401I NM_005813 NP_005804 O94806 KPCD3_HUMAN protein kinase D3 401 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity lung(2)|ovary(1)|central_nervous_system(1) 4 all_hematologic(82;0.21) GTACAACCCTCATTAGCGGAA 0.363 NA 15 99 0 0 0 0 NXPH2 11249 broad.mit.edu 37 2 139429083 139429083 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr2:139429083G>A uc002tvi.2 - 2 204 c.204C>T c.(202-204)CCC>CCT p.P68P NM_007226 NP_009157 O95156 NXPH2_HUMAN neurexophilin 2 precursor 68 II. neuropeptide signaling pathway extracellular region ovary(3)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(221;0.101) CCATGGGGCCGGGCTTGGGCA 0.552 NA 52 107 0 0 0 0 IKZF2 22807 broad.mit.edu 37 2 213878609 213878609 + Missense_Mutation SNP A A C TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr2:213878609A>C uc002vem.2 - 7 931 c.762T>G c.(760-762)AAT>AAG p.N254K IKZF2_uc010fuu.2_Missense_Mutation_p.N109K|IKZF2_uc002vej.2_Missense_Mutation_p.N201K|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Intron|IKZF2_uc002vel.2_Missense_Mutation_p.N175K|IKZF2_uc010fuw.2_Missense_Mutation_p.N28K|IKZF2_uc010fux.2_Missense_Mutation_p.N28K|IKZF2_uc010fuy.2_Missense_Mutation_p.N182K|IKZF2_uc002ven.2_Missense_Mutation_p.N228K|IKZF2_uc002vei.2_Missense_Mutation_p.N32K NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN helios isoform 1 254 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CCAGAGAAATATTGTTGTCCA 0.393 NA 12 61 0 0 0 0 DIRC2 84925 broad.mit.edu 37 3 122598138 122598139 + Missense_Mutation DNP CG CG AT TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr3:122598138_122598139CG>AT uc003efw.3 + 9 1489_1490 c.1350_1351CG>AT c.(1348-1353)CCCGGG>CCATGG p.G451W DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Missense_Mutation_p.G289W|uc003efx.1_RNA NM_032839 NP_116228 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 451 Helical; (Potential). transport integral to membrane 0 GBM - Glioblastoma multiforme(114;0.0614) GGTGCCTTCCCGGGTCGTGTTT 0.455 NA 11 675 0 0 0 0 ATR 545 broad.mit.edu 37 3 142176456 142176456 + Missense_Mutation SNP G G T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr3:142176456G>T uc003eux.3 - 45 7767 c.7645C>A c.(7645-7647)CCT>ACT p.P2549T ATR_uc003euy.1_Missense_Mutation_p.P435T NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 2549 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 CTCATTAAAGGCTCTCGCTGA 0.373 NA Other_conserved_DNA_damage_response_genes 40 38 1.23e-20 9.22e-20 1 0 ALG3 10195 broad.mit.edu 37 3 183960340 183960340 + Missense_Mutation SNP A A G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr3:183960340A>G uc003fne.2 - 9 1310 c.1279T>C c.(1279-1281)TTC>CTC p.F427L ALG3_uc011brc.1_Missense_Mutation_p.F392L|ALG3_uc011brd.1_Missense_Mutation_p.F371L|ALG3_uc011bre.1_Missense_Mutation_p.F379L NM_005787 NP_005778 Q92685 ALG3_HUMAN alpha-1,3-mannosyltransferase ALG3 isoform a 427 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity 0 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTCTTGGGGAAAGGCTGCGGG 0.597 NA 44 154 0 0 0 0 IGF2BP2 10644 broad.mit.edu 37 3 185363333 185363333 + Nonsense_Mutation SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr3:185363333G>A uc003fpo.2 - 16 1865 c.1786C>T c.(1786-1788)CAG>TAG p.Q596* IGF2BP2_uc010hyi.2_Nonsense_Mutation_p.Q539*|IGF2BP2_uc010hyj.2_Nonsense_Mutation_p.Q533*|IGF2BP2_uc010hyk.2_Nonsense_Mutation_p.Q460*|IGF2BP2_uc010hyl.2_Nonsense_Mutation_p.Q490*|IGF2BP2_uc003fpp.2_Nonsense_Mutation_p.Q553*|IGF2BP2_uc003fpq.2_Nonsense_Mutation_p.Q601* NM_006548 NP_006539 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding 596 anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity 0 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) TTGCTGCGCTGTGAGGCGACT 0.547 NA 100 46 0 0 0 0 PCGF3 10336 broad.mit.edu 37 4 755159 755159 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr4:755159G>A uc011bva.1 + 10 1030 c.555G>A c.(553-555)CTG>CTA p.L185L PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Silent_p.L185L|PCGF3_uc010ibh.2_Silent_p.L185L|PCGF3_uc003gbg.1_Silent_p.L151L|PCGF3_uc003gbh.2_Silent_p.L151L NM_006315 NP_006306 Q3KNV8 PCGF3_HUMAN ring finger protein 3 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex zinc ion binding 0 TCTTGCATCTGAAGAAGTTCA 0.498 NA 6 67 0 0 0 0 GABRA2 2555 broad.mit.edu 37 4 46388201 46388201 + Missense_Mutation SNP A A G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr4:46388201A>G uc003gxc.3 - 2 750 c.77T>C c.(76-78)GTG>GCG p.V26A GABRA2_uc010igc.2_Missense_Mutation_p.V26A|GABRA2_uc011bzc.1_5'UTR|GABRA2_uc003gxe.2_Missense_Mutation_p.V26A|GABRA2_uc010igd.1_Missense_Mutation_p.V26A NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 26 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTTAGCCAGCACCAACCTAAA 0.343 NA 9 18 0 0 0 0 POLR2B 5431 broad.mit.edu 37 4 57896547 57896547 + Silent SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr4:57896547C>T uc003hcl.1 + 24 3460 c.3417C>T c.(3415-3417)GGC>GGT p.G1139G POLR2B_uc011cae.1_Silent_p.G1132G|POLR2B_uc011caf.1_Silent_p.G1064G|POLR2B_uc003hcm.1_Silent_p.G632G NM_000938 NP_000929 P30876 RPB2_HUMAN DNA directed RNA polymerase II polypeptide B 1139 C4-type. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(2) 2 Glioma(25;0.08)|all_neural(26;0.181) AATGCAGGGGCTGCCGCAATA 0.433 NA 17 20 0 0 0 0 ETFDH 2110 broad.mit.edu 37 4 159620266 159620266 + Missense_Mutation SNP A A G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr4:159620266A>G uc003iqb.2 + 9 1432 c.1100A>G c.(1099-1101)AAT>AGT p.N367S ETFDH_uc011cjg.1_Missense_Mutation_p.N320S|ETFDH_uc010iqr.2_Intron|ETFDH_uc011cjh.1_Missense_Mutation_p.N306S|ETFDH_uc010iqs.2_Missense_Mutation_p.N289S NM_004453 NP_004444 Q16134 ETFD_HUMAN electron-transferring-flavoprotein dehydrogenase 367 fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport integral to mitochondrial inner membrane|mitochondrial matrix 4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding large_intestine(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0172) AGAGCTCTCAATGAAGGTGGC 0.378 NA 16 14 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187517826 187517826 + Nonsense_Mutation SNP C C A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr4:187517826C>A uc003izf.2 - 25 13056 c.12868G>T c.(12868-12870)GAG>TAG p.E4290* FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Nonsense_Mutation_p.E181* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 4290 Cytoplasmic (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TGCACAGACTCGGGGTTAAAA 0.557 NA HNSCC(5;0.00058) 22 12 8.1e-08 5.93e-07 1 0 EGFLAM 133584 broad.mit.edu 37 5 38464067 38464067 + Missense_Mutation SNP C C G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr5:38464067C>G uc003jlc.1 + 23 3357 c.3033C>G c.(3031-3033)ATC>ATG p.I1011M EGFLAM_uc003jlb.1_Missense_Mutation_p.I1003M|EGFLAM_uc003jle.1_Missense_Mutation_p.I769M|EGFLAM_uc003jlf.1_Missense_Mutation_p.I369M|EGFLAM_uc003jlg.1_Missense_Mutation_p.I146M|EGFLAM_uc003jlh.1_Missense_Mutation_p.I93M NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 1011 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) GGAAAAACATCAACACTTGTG 0.527 NA 7 94 0 0 0 0 KIF3A 11127 broad.mit.edu 37 5 132037805 132037805 + Missense_Mutation SNP C C G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr5:132037805C>G uc003kxo.2 - 13 1931 c.1777G>C c.(1777-1779)GAT>CAT p.D593H KIF3A_uc003kxm.2_Missense_Mutation_p.D175H|KIF3A_uc003kxn.2_Missense_Mutation_p.D578H|KIF3A_uc011cxf.1_Missense_Mutation_p.D620H|KIF3A_uc003kxp.2_Missense_Mutation_p.D596H NM_007054 NP_008985 Q9Y496 KIF3A_HUMAN kinesin family member 3A 593 blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding pancreas(1) 1 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATAAAGTTATCAATAATAAGC 0.413 NA 26 22 0 0 0 0 BTNL8 79908 broad.mit.edu 37 5 180335857 180335857 + Missense_Mutation SNP G G T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr5:180335857G>T uc003mmp.2 + 2 555 c.321G>T c.(319-321)TTG>TTT p.L107F BTNL8_uc003mmq.2_Missense_Mutation_p.L107F|BTNL8_uc011dhg.1_Intron|BTNL8_uc010jll.2_Missense_Mutation_p.L107F|BTNL8_uc010jlm.2_Intron|BTNL8_uc011dhh.1_5'Flank NM_001040462 NP_001035552 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 isoform 2 precursor 107 Extracellular (Potential).|Ig-like V-type 1. integral to membrane upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTACTGTGTTGGATGCTGGCC 0.473 NA 13 207 1.5e-05 0.000105503 1 0 BTNL8 79908 broad.mit.edu 37 5 180335874 180335874 + Missense_Mutation SNP G G T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr5:180335874G>T uc003mmp.2 + 2 572 c.338G>T c.(337-339)GGG>GTG p.G113V BTNL8_uc003mmq.2_Missense_Mutation_p.G113V|BTNL8_uc011dhg.1_Intron|BTNL8_uc010jll.2_Missense_Mutation_p.G113V|BTNL8_uc010jlm.2_Intron|BTNL8_uc011dhh.1_5'Flank NM_001040462 NP_001035552 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 isoform 2 precursor 113 Extracellular (Potential).|Ig-like V-type 1. integral to membrane upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCCTCTATGGGTGCAGGATT 0.478 NA 12 209 0.000151284 0.0010449 1 0 PHACTR1 221692 broad.mit.edu 37 6 13230292 13230292 + Silent SNP A A C TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr6:13230292A>C uc010jpc.2 + 10 1590 c.1258A>C c.(1258-1260)AGG>CGG p.R420R PHACTR1_uc011dir.1_Silent_p.R489R|PHACTR1_uc003nag.1_Silent_p.R420R|PHACTR1_uc003nah.1_Silent_p.R420R NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 420 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity 0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) GAAGGTCTGCAGGAAGGACTC 0.547 NA 4 6 0 0 0 0 OGDH 4967 broad.mit.edu 37 7 44747333 44747333 + Silent SNP C C G rs1135689 TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr7:44747333C>G uc003tln.2 + 22 3058 c.2949C>G c.(2947-2949)GTC>GTG p.V983V OGDH_uc011kbx.1_Silent_p.V979V|OGDH_uc011kby.1_Silent_p.V833V|OGDH_uc003tlp.2_Silent_p.V994V|OGDH_uc011kbz.1_Silent_p.V778V NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 983 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) CCAAGCCCGTCTGGTAAGGCT 0.612 NA 29 52 0 0 0 0 EGFR 1956 broad.mit.edu 37 7 55210002 55210002 + Missense_Mutation SNP C C G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr7:55210002C>G uc003tqk.2 + 2 358 c.112C>G c.(112-114)CTC>GTC p.L38V EGFR_uc003tqh.2_Missense_Mutation_p.L38V|EGFR_uc003tqi.2_Missense_Mutation_p.L38V|EGFR_uc003tqj.2_Missense_Mutation_p.L38V|EGFR_uc010kzg.1_Missense_Mutation_p.L38V|EGFR_uc011kco.1_5'UTR NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 38 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GAGTAACAAGCTCACGCAGTT 0.408 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 33 62 0 0 0 0 TEX15 56154 broad.mit.edu 37 8 30705568 30705568 + Missense_Mutation SNP A A T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr8:30705568A>T uc003xil.2 - 1 966 c.966T>A c.(964-966)GAT>GAA p.D322E NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 322 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ATGCTAGATGATCTAGTTCAT 0.343 NA 13 29 0 0 0 0 ABO 28 broad.mit.edu 37 9 136132874 136132874 + Missense_Mutation SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr9:136132874G>A uc004cda.1 - 7 321 c.296C>T c.(295-297)ACA>ATA p.T99I ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_Intron|ABO_uc010nag.1_5'UTR NM_020469 NP_065202 P16442 BGAT_HUMAN ABO blood group (alpha 99 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) GATGTTGAATGTGCCCTCCCA 0.557 NA 33 38 0 0 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911661 100911661 + Missense_Mutation SNP T T C TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chrX:100911661T>C uc004eid.2 - 3 1269 c.914A>G c.(913-915)GAC>GGC p.D305G ARMCX2_uc004eie.3_Missense_Mutation_p.D305G|ARMCX2_uc004eif.3_Missense_Mutation_p.D305G|ARMCX2_uc004eig.3_Missense_Mutation_p.D305G|ARMCX2_uc010nnt.2_Missense_Mutation_p.D305G NM_177949 NP_808818 Q7L311 ARMX2_HUMAN ALEX2 protein 305 integral to membrane binding p.D305D(1) ovary(6) 6 CCCCAGTTCGTCTACTTCAAC 0.587 NA 64 27 0 0 0 0 ZNF449 203523 broad.mit.edu 37 X 134483238 134483238 + Silent SNP T T G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chrX:134483238T>G uc004eys.2 + 3 723 c.558T>G c.(556-558)CCT>CCG p.P186P ZNF449_uc004eyq.1_3'UTR|ZNF449_uc004eyt.2_Silent_p.P66P NM_152695 NP_689908 Q6P9G9 ZN449_HUMAN zinc finger protein 449 186 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TTCTGGACCCTGGTAAGGCAA 0.512 NA 16 39 0 0 0 0 OPN1LW 5956 broad.mit.edu 37 X 153420103 153420103 + Missense_Mutation SNP C C A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chrX:153420103C>A uc004fjz.3 + 4 666 c.633C>A c.(631-633)AGC>AGA p.S211R NM_020061 NP_064445 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 211 Extracellular. phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCAGCGGCAGCTCGTACCCCG 0.607 NA 45 16 2.7e-25 2.04e-24 1 0 RAD54L 8438 broad.mit.edu 37 1 46726555 46726556 + Frame_Shift_Ins INS - - AC TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr1:46726555_46726556insAC uc009vye.2 + 8 748_749 c.634_635insAC c.(634-636)GACfs p.D212fs RAD54L_uc001cpl.2_Frame_Shift_Ins_p.D212fs|RAD54L_uc001cpm.1_Frame_Shift_Ins_p.D32fs NM_001142548 NP_001136020 Q92698 RAD54_HUMAN RAD54-like protein 212 Helicase ATP-binding. meiosis nucleus ATP binding|DNA binding|helicase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) GCCAGAAATTGACAAGGCAGTG 0.535 NA Direct_reversal_of_damage|Homologous_recombination 30 69 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7578471 7578478 + Frame_Shift_Del DEL GGGCGGGG GGGCGGGG - rs137852791 TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr17:7578471_7578478delGGGCGGGG uc002gim.2 - 5 646_653 c.452_459delCCCCGCCC c.(451-459)CCCCCGCCCfs p.P151fs TP53_uc002gig.1_Frame_Shift_Del_p.P151fs|TP53_uc002gih.2_Frame_Shift_Del_p.P151fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P19fs|TP53_uc010cng.1_Frame_Shift_Del_p.P19fs|TP53_uc002gii.1_Frame_Shift_Del_p.P19fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P151fs|TP53_uc010cni.1_Frame_Shift_Del_p.P151fs|TP53_uc002gij.2_Frame_Shift_Del_p.P151fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.P58fs|TP53_uc002gio.2_Frame_Shift_Del_p.P19fs|TP53_uc010vug.1_Frame_Shift_Del_p.P112fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 151_153 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> T (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P151S(61)|p.P152L(57)|p.P151H(25)|p.P152S(21)|p.P151T(13)|p.P151P(12)|p.P153fs*28(10)|p.P153S(8)|p.P151A(8)|p.P152T(7)|p.0?(7)|p.P153P(7)|p.P151fs*30(7)|p.P151L(6)|p.P152fs*18(6)|p.P151R(6)|p.P153L(6)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P152fs*14(4)|p.P152R(3)|p.P153T(3)|p.G154fs*27(3)|p.T150fs*16(3)|p.G154fs*16(2)|p.P152A(2)|p.P152fs*28(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.T150_P153delTPPP(1)|p.P152_P153del(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152_P153insXXX(1)|p.P153_G154insX(1)|p.P153F(1)|p.P153A(1)|p.T150_P151delTP(1)|p.P153H(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGCGGGTGCCGGGCGGGGGTGTGGAATC 0.606 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 23 30 --- --- --- --- NA NA NA NA TMEM41A 90407 broad.mit.edu 37 3 185212517 185212518 + Frame_Shift_Ins INS - - A rs150885877 byFrequency TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr3:185212517_185212518insA uc003fpj.2 - 4 563_564 c.467_468insT c.(466-468)TTCfs p.F156fs TMEM41A_uc003fpk.2_Intron|TMEM41A_uc003fpl.2_3'UTR NM_080652 NP_542383 Q96HV5 TM41A_HUMAN transmembrane protein 41A precursor 156 Helical; (Potential). integral to membrane 0 all_cancers(143;7.78e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAAACAATAAGAAAAAAAACAA 0.396 NA 7 671 --- --- --- --- NA NA NA NA ANKH 56172 broad.mit.edu 37 5 14716943 14716944 + Frame_Shift_Ins INS - - G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr5:14716943_14716944insG uc003jfm.3 - 9 1343_1344 c.1012_1013insC c.(1012-1014)CTCfs p.L338fs ANKH_uc003jfl.3_Frame_Shift_Ins_p.L51fs NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN progressive ankylosis protein 338 Helical; (Potential). locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity upper_aerodigestive_tract(1) 1 CACGAAACAGAGCTGGGGAGAA 0.455 NA 17 23 --- --- --- --- NA NA NA NA DOPEY1 23033 broad.mit.edu 37 6 83866921 83866941 + In_Frame_Del DEL CGTTTGCCACAGGTGCCAACT CGTTTGCCACAGGTGCCAACT - TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr6:83866921_83866941delCGTTTGCCACAGGTGCCAACT uc003pjs.1 + 35 6885_6905 c.6625_6645delCGTTTGCCACAGGTGCCAACT c.(6625-6645)CGTTTGCCACAGGTGCCAACTdel p.RLPQVPT2209del DOPEY1_uc011dyy.1_In_Frame_Del_p.RLPQVPT2200del|DOPEY1_uc010kbl.1_In_Frame_Del_p.RLPQVPT2200del|DOPEY1_uc003pjt.2_RNA NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 2209_2215 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TGAGAGTCTCCGTTTGCCACAGGTGCCAACTCTCCATTCTC 0.371 NA 9 70 --- --- --- --- NA NA NA NA