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_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut RP1 6101 broad.mit.edu 37 8 55534066 55534066 + Silent SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr8:55534066C>T ENST00000220676.1 + 2 688 c.540C>T c.(538-540)ttC>ttT p.F180F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 180 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCCAGAGCTTCGAGGCATTTC 0.637000 99 157 0 0 0.870114 0 0 NEU1 4758 broad.mit.edu 37 6 31828219 31828219 + Silent SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr6:31828219G>A ENST00000375631.4 - 4 924 c.795C>T c.(793-795)tgC>tgT p.C265C NM_000434.3 NP_000425.1 Q99519 NEUR1_HUMAN sialidase 1 (lysosomal sialidase) 265 cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane exo-alpha-sialidase activity|protein binding kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 Oseltamivir(DB00198)|Zanamivir(DB00558) TCCTGACCTGGCATTCATCAG 0.557000 4 163 0 0 0.184627 0 0 CCDC181 57821 broad.mit.edu 37 1 169391468 169391468 + Missense_Mutation SNP A A T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr1:169391468A>T ENST00000545005.1 - 4 708 c.201T>A c.(199-201)gaT>gaA p.D67E CCDC181_ENST00000367806.3_Missense_Mutation_p.D67E|CCDC181_ENST00000367805.3_Missense_Mutation_p.D67E|CCDC181_ENST00000491570.1_5'UTR coiled-coil domain containing 181 ATTTGTCAGGATCAGAATGCC 0.383000 45 83 0 0 0.859065 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 203 0 0 0.278610 0 0 FAM86B2 653333 broad.mit.edu 37 8 12285220 12285220 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr8:12285220C>T ENST00000262365.4 - 7 837 c.838G>A c.(838-840)Gtg>Atg p.V280M FAM86B2_ENST00000309608.5_3'UTR|FAM86B2_ENST00000393715.3_Missense_Mutation_p.V52M|FAM86B2_ENST00000351291.4_Missense_Mutation_p.V246M NM_001137610.1 NP_001131082.1 P0C5J1 F86B2_HUMAN family with sequence similarity 86, member B2 280 endometrium(1)|kidney(2) 3 GTAAAGGCCACGTAGACCTCA 0.652000 7 41 0 0 0.307466 0 0 ZNF429 353088 broad.mit.edu 37 19 21719158 21719158 + Silent SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr19:21719158G>A ENST00000358491.4 + 4 511 c.303G>A c.(301-303)agG>agA p.R101R ZNF429_ENST00000594022.1_3'UTR|ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 TGACACTGAGGAGATATGATA 0.328000 5 45 0 0 0.248553 0 0 ASAP1 50807 broad.mit.edu 37 8 131130883 131130883 + Missense_Mutation SNP T T G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr8:131130883T>G ENST00000357668.1 - 18 1673 c.1646A>C c.(1645-1647)gAt>gCt p.D549A ASAP1_ENST00000518721.1_Missense_Mutation_p.D549A Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 549 Arf-GAP. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 AAACCTATGATCTACATACTT 0.333000 35 32 0 0 0.779181 0 0 DENND1C 79958 broad.mit.edu 37 19 6477435 6477435 + Missense_Mutation SNP A A G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr19:6477435A>G ENST00000381480.2 - 7 513 c.401T>C c.(400-402)tTt>tCt p.F134S DENND1C_ENST00000543576.1_Missense_Mutation_p.F90S|DENND1C_ENST00000591030.1_5'UTR NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 134 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 GGACTGCTGAAACAGATTTTG 0.627000 19 19 0 0 0.575678 0 0 MRPL55 128308 broad.mit.edu 37 1 228295431 228295431 + Missense_Mutation SNP G G T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr1:228295431G>T ENST00000366731.5 - 5 1067 c.274C>A c.(274-276)Ctg>Atg p.L92M MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366746.3_Missense_Mutation_p.L56M|MRPL55_ENST00000366736.1_Missense_Mutation_p.L56M|MRPL55_ENST00000411464.2_Missense_Mutation_p.L56M|MRPL55_ENST00000366747.3_Missense_Mutation_p.L56M|MRPL55_ENST00000366741.1_Missense_Mutation_p.L56M|MRPL55_ENST00000366733.1_Missense_Mutation_p.L56M|MRPL55_ENST00000366738.1_Missense_Mutation_p.L92M|MRPL55_ENST00000391867.3_Missense_Mutation_p.L56M|MRPL55_ENST00000366739.1_Missense_Mutation_p.L56M|MRPL55_ENST00000366734.1_Missense_Mutation_p.L56M|MRPL55_ENST00000366735.1_Missense_Mutation_p.L56M|MRPL55_ENST00000366732.1_Missense_Mutation_p.L53M|MRPL55_ENST00000336520.3_Missense_Mutation_p.L56M|MRPL55_ENST00000366742.1_Missense_Mutation_p.L56M|MRPL55_ENST00000430433.1_Missense_Mutation_p.L92M|MRPL55_ENST00000366740.1_Missense_Mutation_p.L56M|MRPL55_ENST00000348259.5_Missense_Mutation_p.L56M|MRPL55_ENST00000295008.4_Missense_Mutation_p.L56M|MRPL55_ENST00000336300.5_Missense_Mutation_p.L56M|MRPL55_ENST00000366744.1_Missense_Mutation_p.L56M Q7Z7F7 RM55_HUMAN mitochondrial ribosomal protein L55 56 translation mitochondrial large ribosomal subunit structural constituent of ribosome central_nervous_system(1)|lung(4) 5 Prostate(94;0.0405) TGCTTCACCAGCAGCACGGGG 0.647000 3 49 0.115264 0.1227 0.115264 1 0 KRT2 3849 broad.mit.edu 37 12 53039156 53039156 + Missense_Mutation SNP C C A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr12:53039156C>A ENST00000309680.3 - 9 1588 c.1567G>T c.(1567-1569)Ggt>Tgt p.G523C NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 523 Tail. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) GACCCTCTACCTCCAGAACCT 0.552000 88 148 7.539e-32 8.57886e-32 0.870114 1 0 DAZL 1618 broad.mit.edu 37 3 16640098 16640098 + Missense_Mutation SNP G G T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr3:16640098G>T ENST00000250863.8 - 2 358 c.71C>A c.(70-72)gCa>gAa p.A24E DAZL_ENST00000399444.2_Missense_Mutation_p.A4E NM_001190811.1 NP_001177740.1 Q92904 DAZL_HUMAN deleted in azoospermia-like 4 germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm|nucleus nucleotide binding|protein binding|RNA binding|translation activator activity p.A4E(1) RAF1/DAZL(2) endometrium(1)|large_intestine(3)|lung(4)|prostate(3) 11 TTCAGGATTTGCAGTAGACTG 0.358000 4 229 0.184627 0.190397 0.184627 1 0 PCDHB3 56132 broad.mit.edu 37 5 140480302 140480302 + Silent SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr5:140480302G>A ENST00000231130.2 + 1 69 c.69G>A c.(67-69)ggG>ggA p.G23G AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 23 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCTGGGAGGGTCTCTGGCTG 0.498000 27 75 0 0 0.706142 0 0 PHF5A 84844 broad.mit.edu 37 22 41863565 41863565 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr22:41863565G>A ENST00000216252.3 - 3 201 c.130C>T c.(130-132)Cgc>Tgc p.R44C PHF5A_ENST00000491254.1_5'UTR NM_032758.3 NP_116147.1 Q7RTV0 PHF5A_HUMAN PHD finger protein 5A 44 nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent nuclear speck|U12-type spliceosomal complex|U2 snRNP DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(1) 4 TCACATATGCGCACCAGAGTG 0.493000 43 60 0 0 0.864702 0 0 GRIK4 2900 broad.mit.edu 37 11 120732824 120732824 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr11:120732824C>T ENST00000527524.2 + 9 1188 c.901C>T c.(901-903)Cct>Tct p.P301S GRIK4_ENST00000438375.2_Missense_Mutation_p.P301S Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 301 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) CTTCACTGGGCCTGCGGTAAG 0.562000 142 232 0 0 0.870114 0 0 SEMA4F 10505 broad.mit.edu 37 2 74883774 74883774 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr2:74883774G>A ENST00000357877.2 + 2 408 c.259G>A c.(259-261)Gct>Act p.A87T SEMA4F_ENST00000339773.5_Missense_Mutation_p.A87T NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 87 Sema. cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 CACCATCTTCGCTTTATCCCT 0.527000 68 131 0 0 0.870114 0 0 TMEM245 23731 broad.mit.edu 37 9 111795700 111795700 + Silent SNP A A G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr9:111795700A>G ENST00000374586.3 - 17 2512 c.2481T>C c.(2479-2481)ccT>ccC p.P827P NM_032012.3 NP_114401.2 Q9H330 CI005_HUMAN transmembrane protein 245 827 integral to membrane AGAGAAGAATAGGACCGATGA 0.527000 3 186 0 0 0.115264 0 0 GNA15 2769 broad.mit.edu 37 19 3148739 3148739 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr19:3148739G>A ENST00000262958.3 + 2 554 c.296G>A c.(295-297)cGg>cAg p.R99Q AC005264.2_ENST00000587587.1_RNA NM_002068.2 NP_002059.2 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 99 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) GCCATGGAGCGGCTGCAGATT 0.692000 7 1 0 0 0.335167 0 0 CHMP1B 57132 broad.mit.edu 37 18 11851812 11851812 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr18:11851812C>T ENST00000526991.2 + 1 418 c.302C>T c.(301-303)gCg>gTg p.A101V GNAL_ENST00000423027.3_Intron|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000269162.5_Intron|RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000535121.1_Intron NM_020412.4 NP_065145.2 Q7LBR1 CHM1B_HUMAN charged multivesicular body protein 1B 101 cell cycle|cell division|protein transport cytosol|late endosome membrane protein domain specific binding endometrium(1)|lung(1)|urinary_tract(1) 3 TCGATGGATGCGACATTGAAG 0.532000 4 194 0 0 0.184627 0 0 HAL 3034 broad.mit.edu 37 12 96379739 96379739 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr12:96379739G>A ENST00000261208.3 - 14 1521 c.1153C>T c.(1153-1155)Cac>Tac p.H385Y HAL_ENST00000538703.1_Missense_Mutation_p.H385Y|HAL_ENST00000541929.1_Missense_Mutation_p.H177Y NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 385 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) CAGAACCTGTGACTCTCTGTG 0.418000 33 40 0 0 0.804634 0 0 C2orf68 388969 broad.mit.edu 37 2 85836569 85836569 + Missense_Mutation SNP T T A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr2:85836569T>A ENST00000306336.5 - 3 411 c.367A>T c.(367-369)Atc>Ttc p.I123F USP39_ENST00000459775.1_Intron NM_001013649.3 NP_001013671.2 Q2NKX9 CB068_HUMAN chromosome 2 open reading frame 68 123 breast(1)|central_nervous_system(1)|endometrium(1) 3 TGATAGACGATAACTGATGTG 0.542000 170 299 0 0 0.870114 0 0 DRD2 1813 broad.mit.edu 37 11 113283362 113283362 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr11:113283362G>A ENST00000362072.3 - 7 1398 c.1054C>T c.(1054-1056)Cgg>Tgg p.R352W DRD2_ENST00000544518.1_Missense_Mutation_p.R351W|DRD2_ENST00000542968.1_Missense_Mutation_p.R352W|DRD2_ENST00000538967.1_Missense_Mutation_p.R354W|DRD2_ENST00000346454.3_Missense_Mutation_p.R323W|DRD2_ENST00000355319.2_Missense_Mutation_p.R354W NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 352 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) AGGGAGGTCCGGGTTTTGCCA 0.567000 52 41 0 0 0.870114 0 0 MUC4 4585 broad.mit.edu 37 3 195505835 195505835 + Missense_Mutation SNP C C T rs58500707 by1000genomes TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr3:195505835C>T ENST00000463781.3 - 2 13075 c.12616G>A c.(12616-12618)Gcc>Acc p.A4206T MUC4_ENST00000475231.1_Missense_Mutation_p.A4206T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 969 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.A4206T(3) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 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) AGAGGGGTGGCGTGACCTGTG 0.597000 8 16 0 0 0.307466 0 0 APITD1-CORT 100526739 broad.mit.edu 37 1 10494743 10494743 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr1:10494743G>A ENST00000400900.2 + 3 621 c.205G>A c.(205-207)Gca>Aca p.A69T APITD1_ENST00000309048.3_Missense_Mutation_p.A69T|APITD1_ENST00000462462.1_Intron|APITD1_ENST00000602787.1_Missense_Mutation_p.A69T|APITD1-CORT_ENST00000465026.1_Intron|APITD1_ENST00000602296.1_Missense_Mutation_p.A69T|APITD1-CORT_ENST00000470413.2_Missense_Mutation_p.A69T Q8N2Z9 CENPS_HUMAN 69 DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding TGAAATGTTTGCAAGGTGGGT 0.418000 8 162 0 0 0.278610 0 0 SIAH3 283514 broad.mit.edu 37 13 46357874 46357874 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr13:46357874C>T ENST00000400405.2 - 2 560 c.454G>A c.(454-456)Gcg>Acg p.A152T NM_198849.2 NP_942146.2 Q8IW03 SIAH3_HUMAN siah E3 ubiquitin protein ligase family member 3 152 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 TCAGCCGGCGCGGGGAGGTGC 0.617000 27 19 0 0 0.667858 0 0 LDLRAD4 753 broad.mit.edu 37 18 13645458 13645458 + Silent SNP C C G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr18:13645458C>G ENST00000361205.4 + 7 1391 c.723C>G c.(721-723)acC>acG p.T241T LDLRAD4_ENST00000399848.3_Silent_p.T223T|LDLRAD4_ENST00000585931.1_Silent_p.T164T|LDLRAD4_ENST00000587757.1_Silent_p.T204T|LDLRAD4_ENST00000359446.5_Silent_p.T241T|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000586765.1_Silent_p.T186T|LDLRAD4_ENST00000592991.1_Silent_p.T143T NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 GTGCAAGCACCTGCAGCAGTA 0.582000 67 86 0 0 0.870114 0 0 KCNK15 60598 broad.mit.edu 37 20 43378887 43378887 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr20:43378887C>T ENST00000372861.3 + 2 532 c.401C>T c.(400-402)gCg>gTg p.A134V NM_022358.3 NP_071753.2 Q9H427 KCNKF_HUMAN potassium channel, subfamily K, member 15 134 integral to membrane potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(115;0.0122) CGGCTGAACGCGGTGGTGCGG 0.682000 3 18 0 0 0.115264 0 0 PDE7A 5150 broad.mit.edu 37 8 66691967 66691967 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr8:66691967G>A ENST00000401827.3 - 3 714 c.271C>T c.(271-273)Cgt>Tgt p.R91C PDE7A_ENST00000379419.4_Missense_Mutation_p.R65C|PDE7A_ENST00000396642.3_Missense_Mutation_p.R91C NM_001242318.2 NP_001229247.1 Q13946 PDE7A_HUMAN phosphodiesterase 7A 91 cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1) 10 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) TGGAAAATACGAAAATCAATA 0.353000 8 191 0 0 0.278610 0 0 CHPF2 54480 broad.mit.edu 37 7 150934838 150934838 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr7:150934838C>T ENST00000035307.2 + 4 2903 c.1390C>T c.(1390-1392)Cgc>Tgc p.R464C CHPF2_ENST00000495645.1_Missense_Mutation_p.R456C NM_019015.1 NP_061888.1 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 464 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 GGCCCTGGCTCGCAGGGTCAG 0.652000 27 58 0 0 0.717897 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 59 0 0 0.115264 0 0 GRM1 2911 broad.mit.edu 37 6 146747715 146747715 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr6:146747715C>T ENST00000392299.2 + 9 3151 c.2681C>T c.(2680-2682)tCg>tTg p.S894L GRM1_ENST00000507907.1_Missense_Mutation_p.S894L|GRM1_ENST00000282753.1_Intron|GRM1_ENST00000492807.2_Missense_Mutation_p.S894L|GRM1_ENST00000361719.2_Intron|GRM1_ENST00000355289.4_Intron Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 0 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.S894W(1) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCAGAATTCTCGCCCACCAGC 0.493000 4 21 0 0 0.184627 0 0 SMC4 10051 broad.mit.edu 37 3 160150245 160150245 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr3:160150245G>A ENST00000357388.3 + 22 3923 c.3472G>A c.(3472-3474)Gac>Aac p.D1158N TRIM59_ENST00000543469.1_3'UTR|SMC4_ENST00000360111.2_Missense_Mutation_p.D1100N|SMC4_ENST00000469762.1_Missense_Mutation_p.D1133N|SMC4_ENST00000462787.1_Missense_Mutation_p.D1100N|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.D1158N NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 1158 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTTGGGAGGGGACGCCGAACT 0.363000 8 89 0 0 0.278610 0 0 EIF4G3 8672 broad.mit.edu 37 1 21220080 21220080 + Missense_Mutation SNP G G C TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr1:21220080G>C ENST00000602326.1 - 16 2616 c.2033C>G c.(2032-2034)cCt>cGt p.P678R EIF4G3_ENST00000264211.8_Missense_Mutation_p.P672R|EIF4G3_ENST00000544689.1_Missense_Mutation_p.P215R|EIF4G3_ENST00000536266.1_Missense_Mutation_p.P276R|EIF4G3_ENST00000537738.1_Missense_Mutation_p.P125R|EIF4G3_ENST00000400422.1_Missense_Mutation_p.P672R|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000374935.3_Missense_Mutation_p.P392R|EIF4G3_ENST00000374937.3_Missense_Mutation_p.P678R NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 672 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TGGTCCTCGAGGCAAAATTCG 0.463000 46 83 0 0 0.870114 0 0 SLC26A2 1836 broad.mit.edu 37 5 149357868 149357868 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr5:149357868C>T ENST00000286298.4 + 2 921 c.653C>T c.(652-654)gCa>gTa p.A218V NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 218 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AGTTGCTATGCAATTATGGTT 0.363000 50 134 0 0 0.870114 0 0 IGKV1-27 28935 broad.mit.edu 37 2 89513047 89513047 + RNA SNP T T C TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr2:89513047T>C ENST00000498435.1 - 0 242 GGATGCAGCATAGATCAGGAG 0.517000 79 241 0 0 0.870114 0 0 SYNE2 23224 broad.mit.edu 37 14 64493344 64493344 + Silent SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr14:64493344C>T ENST00000358025.3 + 42 6530 c.6300C>T c.(6298-6300)atC>atT p.I2100I SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.I2100I|SYNE2_ENST00000344113.4_Silent_p.I2100I NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2100 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TAGAGACCATCATGAAGCAGG 0.448000 17 9 0 0 0.539581 0 0 PLCXD2 257068 broad.mit.edu 37 3 111432939 111432939 + Missense_Mutation SNP G G T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr3:111432939G>T ENST00000393934.3 + 3 1400 c.830G>T c.(829-831)gGc>gTc p.G277V PLCXD2_ENST00000477665.1_Missense_Mutation_p.G277V|PLCXD2_ENST00000472215.1_3'UTR NM_153268.3 NP_695000.1 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 2 277 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 ATTGCCCGGGGCTTGGTTGGG 0.502000 6 173 3.59834e-05 3.89328e-05 0.217242 1 0 OPCML 4978 broad.mit.edu 37 11 132527003 132527003 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr11:132527003G>A ENST00000331898.7 - 2 957 c.379C>T c.(379-381)Cgg>Tgg p.R127W OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.R120W|OPCML_ENST00000374778.4_Missense_Mutation_p.R86W|OPCML_ENST00000541867.1_Missense_Mutation_p.R127W NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 127 cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) AGGTGAACCCGGGACGTTTTG 0.502000 31 87 0 0 0.779181 0 0 AGFG1 3267 broad.mit.edu 37 2 228416677 228416677 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr2:228416677G>A ENST00000310078.7 + 11 1641 c.1381G>A c.(1381-1383)Gca>Aca p.A461T AGFG1_ENST00000409171.1_Missense_Mutation_p.A461T|AGFG1_ENST00000373671.3_Missense_Mutation_p.A421T|AGFG1_ENST00000409315.1_Missense_Mutation_p.A440T|AGFG1_ENST00000409979.2_Missense_Mutation_p.A485T NM_001135188.1|NM_004504.4 NP_001128660.1|NP_004495.2 P52594 AGFG1_HUMAN ArfGAP with FG repeats 1 461 cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding p.A461S(1) central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1) 18 TCTGTCAGCGGCAACCTTTGG 0.458000 4 231 0 0 0.150653 0 0 TMEM132A 54972 broad.mit.edu 37 11 60696185 60696185 + Missense_Mutation SNP T T A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr11:60696185T>A ENST00000005286.4 + 4 772 c.619T>A c.(619-621)Tac>Aac p.Y207N TMEM132A_ENST00000453848.2_Missense_Mutation_p.Y207N NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 207 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CGAGCTGGCCTACACGCTTGA 0.692000 28 38 0 0 0.717897 0 0 IRX6 79190 broad.mit.edu 37 16 55361590 55361590 + Missense_Mutation SNP G G A rs139251893 by1000genomes TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr16:55361590G>A ENST00000290552.7 + 4 1838 c.506G>A c.(505-507)cGc>cAc p.R169H RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 169 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 AACGAGCACCGCAAAAACCCC 0.612000 3 56 0 0 0.115264 0 0 SHBG 6462 broad.mit.edu 37 17 7533791 7533791 + Translation_Start_Site SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr17:7533791G>A ENST00000575314.1 + 0 104 SHBG_ENST00000416273.3_Missense_Mutation_p.A57T|SHBG_ENST00000441599.2_Missense_Mutation_p.A57T|SHBG_ENST00000340624.5_De_novo_Start_OutOfFrame|SHBG_ENST00000570547.1_De_novo_Start_OutOfFrame|SHBG_ENST00000574539.1_De_novo_Start_OutOfFrame|SHBG_ENST00000572262.1_De_novo_Start_OutOfFrame|SHBG_ENST00000575903.1_Missense_Mutation_p.A57T|SHBG_ENST00000576728.1_De_novo_Start_OutOfFrame|SHBG_ENST00000380450.4_Missense_Mutation_p.A57T|SHBG_ENST00000572182.1_De_novo_Start_OutOfFrame|SHBG_ENST00000576478.1_De_novo_Start_OutOfFrame P04278 SHBG_HUMAN sex hormone-binding globulin hormone transport extracellular region androgen binding|protein homodimerization activity p.?(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) AGAGCCTATCGCTGTCATGAC 0.537000 58 108 0 0 0.870114 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79954516 79954516 + Missense_Mutation SNP G G C TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr17:79954516G>C ENST00000306729.7 + 7 824 c.727G>C c.(727-729)Gtt>Ctt p.V243L ASPSCR1_ENST00000580534.1_Missense_Mutation_p.V166L|ASPSCR1_ENST00000306739.4_Missense_Mutation_p.V243L NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 243 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) TGCCCCCTTTGTTCCTTTCTC 0.657000 T TFE3 alveolar soft part sarcoma 20 42 0 0 0.654019 0 0 MUC4 4585 broad.mit.edu 37 3 195505838 195505838 + Missense_Mutation SNP G G C rs59101491 TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr3:195505838G>C ENST00000463781.3 - 2 13072 c.12613C>G c.(12613-12615)Cac>Gac p.H4205D MUC4_ENST00000475231.1_Missense_Mutation_p.H4205D|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205D(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 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) GGGGTGGCGTGACCTGTGGAT 0.597000 8 16 0 0 0.307466 0 0 CDH3 1001 broad.mit.edu 37 16 68729271 68729271 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr16:68729271G>A ENST00000264012.4 + 14 2660 c.2116G>A c.(2116-2118)Ggt>Agt p.G706S CDH3_ENST00000429102.2_Missense_Mutation_p.G706S|CDH3_ENST00000581171.1_Missense_Mutation_p.G651S NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 706 adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) CGAAGAGGGGGGTGGCGAAGA 0.587000 14 6 0 0 0.457914 0 0 ERN2 10595 broad.mit.edu 37 16 23713534 23713534 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr16:23713534C>T ENST00000256797.4 - 11 1454 c.1286G>A c.(1285-1287)gGg>gAg p.G429E ERN2_ENST00000457008.2_Missense_Mutation_p.G381E NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 381 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AGTTCCACTCCCCAGGGTGGG 0.617000 112 190 0 0 0.870114 0 0 HIVEP3 59269 broad.mit.edu 37 1 42046335 42046335 + Silent SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr1:42046335G>A ENST00000372584.1 - 3 5148 c.4134C>T c.(4132-4134)ccC>ccT p.P1378P HIVEP3_ENST00000372583.1_Silent_p.P1378P|HIVEP3_ENST00000429157.2_Silent_p.P1378P|HIVEP3_ENST00000247584.5_Silent_p.P1378P NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1378 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CAGAAGGGCCGGGCCCAACCT 0.527000 105 134 0 0 0.870114 0 0 TTN 7273 broad.mit.edu 37 2 179568957 179568957 + Missense_Mutation SNP A A G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr2:179568957A>G ENST00000589042.1 - 106 30364 c.30140T>C c.(30139-30141)aTt>aCt p.I10047T TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I8803T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.I9730T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9730 Glu-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACATCTGCAATGGTCAATTT 0.413000 91 181 0 0 0.870114 0 0 SPTAN1 6709 broad.mit.edu 37 9 131388129 131388129 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr9:131388129G>A ENST00000358161.5 + 48 6264 c.6151G>A c.(6151-6153)Gcc>Acc p.A2051T SPTAN1_ENST00000372731.4_Missense_Mutation_p.A2046T|SPTAN1_ENST00000372739.3_Missense_Mutation_p.A2051T Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2046 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GCTTCTCGCCGCCAAACACGT 0.582000 6 314 0 0 0.217242 0 0 TEX35 84066 broad.mit.edu 37 1 178491563 178491563 + Silent SNP T T A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr1:178491563T>A ENST00000319416.2 + 9 802 c.690T>A c.(688-690)acT>acA p.T230T TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000258298.2_Intron|TEX35_ENST00000367641.3_3'UTR|TEX35_ENST00000367639.1_Intron NM_032126.4 NP_115502.2 testis expressed 35 agtcccagactgagggaaggt 0.517000 10 13 0 0 0.361761 0 0 OR2W1 26692 broad.mit.edu 37 6 29012436 29012436 + Missense_Mutation SNP T T C TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr6:29012436T>C ENST00000377175.1 - 1 581 c.517A>G c.(517-519)Att>Gtt p.I173V NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 TGATCCAGAATGTTGTTTCCA 0.378000 62 105 0 0 0.870114 0 0 KCNK5 8645 broad.mit.edu 37 6 39159524 39159524 + Missense_Mutation SNP G G T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr6:39159524G>T ENST00000359534.3 - 5 980 c.642C>A c.(640-642)aaC>aaA p.N214K NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 214 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 TGGCGCTGGGGTTCACACCTG 0.587000 65 121 4.38816e-42 5.08103e-42 0.870114 1 0 RECK 8434 broad.mit.edu 37 9 36110017 36110017 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr9:36110017G>A ENST00000377966.3 + 15 2395 c.1829G>A c.(1828-1830)tGc>tAc p.C610Y NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 610 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) AATTTGGTGTGCTCTACCCGC 0.463000 118 193 0 0 0.870114 0 0 FRYL 285527 broad.mit.edu 37 4 48529997 48529997 + Silent SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr4:48529997C>T ENST00000537810.1 - 52 7735 c.7131G>A c.(7129-7131)aaG>aaA p.K2377K FRYL_ENST00000358350.4_Silent_p.K2377K|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Silent_p.K2377K O94915 FRYL_HUMAN FRY-like 2377 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 CTGATGGGTTCTTTGGGAGGC 0.373000 5 152 0 0 0.278610 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7618879 7618879 + Missense_Mutation SNP A A G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr11:7618879A>G ENST00000299492.4 + 5 849 c.461A>G c.(460-462)aAt>aGt p.N154S PPFIBP2_ENST00000528883.1_Missense_Mutation_p.N42S|PPFIBP2_ENST00000533792.1_5'UTR NM_003621.3 NP_003612.2 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 154 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) GTGAAACTCAATGCTGCTGAA 0.547000 16 20 0 0 0.539581 0 0 PPP1R8 5511 broad.mit.edu 37 1 28167531 28167531 + Missense_Mutation SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr1:28167531G>A ENST00000311772.5 + 4 336 c.278G>A c.(277-279)gGc>gAc p.G93D PPP1R8_ENST00000236412.7_Intron|PPP1R8_ENST00000373931.4_5'UTR NM_014110.4 NP_054829.2 Q12972 PP1R8_HUMAN protein phosphatase 1, regulatory subunit 8 93 FHA.|Interaction with CDC5L, SF3B1 and MELK. mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent cytoplasm|nuclear speck|spliceosomal complex DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649) CCAGCACACGGCACTTTCTTG 0.468000 5 250 0 0 0.184627 0 0 ZNF516 9658 broad.mit.edu 37 18 74091731 74091731 + Missense_Mutation SNP C C T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr18:74091731C>T ENST00000443185.2 - 4 2656 c.2339G>A c.(2338-2340)cGc>cAc p.R780H ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 780 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GTGCCAGATGCGTTTGTGCAT 0.572000 13 30 0 0 0.457914 0 0 MYLK 4638 broad.mit.edu 37 3 123385193 123385193 + Splice_Site SNP G G A TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr3:123385193G>A ENST00000360772.3 - 23 4082 c.3703_splice c.e23-1 p.A1235_splice MYLK_ENST00000475616.1_Splice_Site_p.A1235_splice|MYLK_ENST00000354792.5_Splice_Site_p.A35_splice|MYLK_ENST00000360304.3_Splice_Site_p.A1235_splice|MYLK_ENST00000359169.1_Splice_Site_p.A1235_splice|MYLK_ENST00000346322.5_Splice_Site_p.A1166_splice|MYLK_ENST00000510775.1_5'UTR Q15746 MYLK_HUMAN myosin light chain kinase 1235 Actin-binding (calcium/calmodulin- insensitive) (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) AGGGGGCATTGCTGAGGGAGG 0.557000 42 166 0 0 0.853193 0 0 CYLD 1540 broad.mit.edu 37 16 50820854 50820854 + Nonsense_Mutation SNP A A T TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr16:50820854A>T ENST00000540145.1 + 13 2453 c.2038A>T c.(2038-2040)Aaa>Taa p.K680* CYLD_ENST00000427738.3_Nonsense_Mutation_p.K680*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.K677*|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Nonsense_Mutation_p.K677*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.K495*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.K677*|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Nonsense_Mutation_p.K680*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.K677* Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 680 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) CTCTGAAGAAAAAGGTGACCA 0.358000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 37 26 0 0 0.788014 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 4 226 0 0 0.150653 0 0 MYH9 4627 broad.mit.edu 37 22 36685234 36685234 + Missense_Mutation SNP A A G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr22:36685234A>G ENST00000216181.5 - 32 4684 c.4454T>C c.(4453-4455)cTg>cCg p.L1485P NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1485 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GGCTTCCTCCAGGGCCCGGGC 0.627000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 24 47 0 0 0.693898 0 0 PRAMEF26 645359 broad.mit.edu 37 1 13219107 13219109 + In_Frame_Del DEL CTT CTT - TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr1:13219107_13219109delCTT ENST00000423177.1 - 1 472_474 c.473_475delAAG c.(472-477)gga>g p.EG158del breast(1)|lung(1) 2 TAACAATCTCCTTCTTCTGCTCT 0.507 68 427 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.493 8 852 --- --- --- --- MUC20 200958 broad.mit.edu 37 3 195452996 195452997 + Frame_Shift_Del DEL AG AG - TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr3:195452996_195452997delAG ENST00000320736.6 + 3 1135_1136 c.1009_1010delAG c.(1009-1011)afs p.R337fs MUC20_ENST00000447234.2_Frame_Shift_Del_p.R508fs|MUC20_ENST00000445522.2_Frame_Shift_Del_p.R473fs|MUC20_ENST00000436408.1_Frame_Shift_Del_p.R508fs NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 508 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich. Missing. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CGCCACAGAAAGAGAAGTGACA 0.604 14 126 --- --- --- --- ERBB2IP 55914 broad.mit.edu 37 5 65349867 65349867 + Frame_Shift_Del DEL A A - TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr5:65349867delA ENST00000284037.5 + 21 3110 c.2721delA c.(2719-2721)ggfs p.G907fs ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 907 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) CTGTTGATGGAAAAAATATAG 0.378 7 2462 --- --- --- --- RP11-459E5.1 0 broad.mit.edu 37 8 22557219 22557220 + RNA INS - - AGAAAG rs13262232 TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr8:22557219_22557220insAGAAAG ENST00000523627.1 + 0 164 gaagaaaggaaagaaagaaaga 0.312 3 6 --- --- --- --- NOV 4856 broad.mit.edu 37 8 120428777 120428778 + Frame_Shift_Del DEL AG AG - TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr8:120428777_120428778delAG ENST00000259526.3 + 1 232_233 c.5_6delAG c.(4-6)cfs p.Q2fs NM_002514.3 NP_002505.1 P48745 NOV_HUMAN nephroblastoma overexpressed 2 regulation of cell growth growth factor activity|insulin-like growth factor binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3) 21 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTGAGCATGCAGAGTGTGCAGA 0.550 OREG0018940 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 41 --- --- --- --- LINC01492 101928496 broad.mit.edu 37 9 105984006 105984007 + RNA INS - - G rs67717417 TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr9:105984006_105984007insG ENST00000411575.1 - 0 870 AAAAAAAAAAAAAGAAGAAGAA 0.322 4 4 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 3 4 --- --- --- --- KRTAP4-7 100132476 broad.mit.edu 37 17 39240782 39240796 + In_Frame_Del DEL CTGCTGCCGCCCCAG CTGCTGCCGCCCCAG - rs11650261 by1000genomes TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr17:39240782_39240796delCTGCTGCCGCCCCAG ENST00000391417.4 + 1 324_338 c.324_338delCTGCTGCCGCCCCAG c.(322-339)acc>ac p.TCCRPS108del NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.R111_C115delRPSCC(1)|p.S113C(1)|p.P112P(1)|p.?(1) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 gccagcccacctgctgccgccccagctgctgccgc 0.670 8 61 --- --- --- --- KLHL11 55175 broad.mit.edu 37 17 40021170 40021171 + Frame_Shift_Ins INS - - G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr17:40021170_40021171insG ENST00000319121.3 - 1 513_514 c.453_454insC c.(451-456)ccacacfs p.H152fs NM_018143.1 NP_060613.1 Q9NVR0 KLH11_HUMAN kelch-like family member 11 152 BTB. extracellular region NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 Breast(137;0.00156) TCCACTGTGTCGGGTTCGGGCC 0.663 8 72 --- --- --- --- PNMAL2 57469 broad.mit.edu 37 19 46997016 46997017 + In_Frame_Ins INS - - CGGCCT rs147338403 by1000genomes TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 363ccc6f-dab0-413e-bc42-d738ee25abcd e35524f2-301e-42e6-b910-6803670d8ed8 g.chr19:46997016_46997017insCGGCCT ENST00000599531.1 - 1 2738_2739 c.1706_1707insAGGCCG c.(1705-1707)cgg>cAGGCCGgg p.569_569R>QAG PNMAL2_ENST00000377655.2_Intron|PNMAL2_ENST00000594749.1_Intron NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 571 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) GAGTGACGCCCCGGCCTCGGCC 0.777 4 6 --- --- --- ---