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 LUZP1 7798 broad.mit.edu 37 1 23419092 23419092 + Missense_Mutation SNP C C A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:23419092C>A uc001bgk.2 - 4 2047 c.1663G>T c.(1663-1665)GCT>TCT p.A555S LUZP1_uc010odv.1_Missense_Mutation_p.A555S|LUZP1_uc001bgl.2_Missense_Mutation_p.A555S|LUZP1_uc001bgm.1_Missense_Mutation_p.A555S NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 555 nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) GAGTTTGCAGCCTGAGTTACT 0.537 NA 4 97 0.000602214 0.000760489 1 0 EXTL1 2134 broad.mit.edu 37 1 26349468 26349468 + Missense_Mutation SNP C C G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:26349468C>G uc001blf.2 + 1 1198 c.331C>G c.(331-333)CAT>GAT p.H111D NM_004455 NP_004446 Q92935 EXTL1_HUMAN exostoses-like 1 111 Lumenal (Potential). skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CTCTGAGACTCATCGCAGGAT 0.577 NA 5 58 0 0 0 0 GBP4 115361 broad.mit.edu 37 1 89655859 89655859 + Missense_Mutation SNP C C G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:89655859C>G uc001dnb.2 - 7 1175 c.1059G>C c.(1057-1059)ATG>ATC p.M353I NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 353 cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) GTTGCTGGGCCATCTGCTGGC 0.602 NA 4 57 0 0 0 0 DENND2D 79961 broad.mit.edu 37 1 111742266 111742266 + Missense_Mutation SNP T T C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:111742266T>C uc001eak.1 - 2 422 c.222A>G c.(220-222)ATA>ATG p.I74M DENND2D_uc001eal.1_Missense_Mutation_p.I71M NM_024901 NP_079177 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 74 UDENN. ovary(1) 1 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) GGTAGGTGATTATAGGCTCGT 0.522 NA 11 156 0 0 0 0 SPTA1 6708 broad.mit.edu 37 1 158627412 158627412 + Missense_Mutation SNP C C A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:158627412C>A uc001fst.1 - 19 2859 c.2660G>T c.(2659-2661)CGA>CTA p.R887L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 887 Spectrin 9. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CCTAGCAGCTCGAGCACGGAG 0.473 NA 6 140 0.00198382 0.00241242 1 0 ATF6 22926 broad.mit.edu 37 1 161928411 161928411 + Missense_Mutation SNP C C G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:161928411C>G uc001gbr.2 + 16 2047 c.1980C>G c.(1978-1980)CAC>CAG p.H660Q ATF6_uc001gbs.2_RNA NM_007348 NP_031374 P18850 ATF6A_HUMAN activating transcription factor 6 660 Lumenal (Potential). positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|skin(1) 3 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) AGGCAACCCACGTTGTCAGCA 0.522 NA 5 112 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237777923 237777923 + Missense_Mutation SNP G G C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:237777923G>C uc001hyl.1 + 37 5615 c.5495G>C c.(5494-5496)GGC>GCC p.G1832A NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1832 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTGATCATGGGCATCTTTCAC 0.502 NA 5 160 0 0 0 0 TRIM58 25893 broad.mit.edu 37 1 248023998 248023998 + Missense_Mutation SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:248023998A>G uc001ido.2 + 2 548 c.500A>G c.(499-501)AAG>AGG p.K167R NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 167 intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GTGGGGAAAAAGACTGTCATT 0.478 NA 5 72 0 0 0 0 OR2L8 391190 broad.mit.edu 37 1 248112599 248112599 + Missense_Mutation SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:248112599C>T uc001idt.1 + 1 440 c.440C>T c.(439-441)TCT>TTT p.S147F OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ATAACAGGGTCTTGGATCATA 0.438 NA 8 167 0 0 0 0 PARD3 56288 broad.mit.edu 37 10 34673066 34673066 + Missense_Mutation SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr10:34673066C>T uc010qej.1 - 8 1007 c.1007G>A c.(1006-1008)AGA>AAA p.R336K PARD3_uc010qek.1_Missense_Mutation_p.R336K|PARD3_uc010qel.1_Missense_Mutation_p.R336K|PARD3_uc010qem.1_Missense_Mutation_p.R336K|PARD3_uc010qen.1_Missense_Mutation_p.R336K|PARD3_uc010qeo.1_Missense_Mutation_p.R336K|PARD3_uc010qep.1_Missense_Mutation_p.R292K|PARD3_uc010qeq.1_Missense_Mutation_p.R292K|PARD3_uc001ixo.1_Missense_Mutation_p.R66K|PARD3_uc001ixp.1_Missense_Mutation_p.R201K|PARD3_uc001ixq.1_Missense_Mutation_p.R336K|PARD3_uc001ixr.1_Missense_Mutation_p.R336K|PARD3_uc001ixt.1_Missense_Mutation_p.R157K|PARD3_uc001ixu.1_Missense_Mutation_p.R292K|PARD3_uc001ixs.1_5'UTR NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 336 PDZ 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) CTGTTCAAATCTTCTATTTCG 0.398 NA 4 60 0 0 0 0 RUFY2 55680 broad.mit.edu 37 10 70141060 70141060 + Missense_Mutation SNP T T C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr10:70141060T>C uc001job.2 - 11 1468 c.1141A>G c.(1141-1143)ACT>GCT p.T381A RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Missense_Mutation_p.T312A|RUFY2_uc010qiw.1_Missense_Mutation_p.T288A|RUFY2_uc001jod.1_Missense_Mutation_p.T346A NM_017987 NP_060457 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain-containing 2 isoform a 395 Potential. nucleus metal ion binding ovary(1) 1 CCTATCAGAGTATCTTGTTTC 0.363 NA 9 101 0 0 0 0 P2RY6 5031 broad.mit.edu 37 11 73008161 73008161 + Missense_Mutation SNP G G T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr11:73008161G>T uc001otm.2 + 4 1003 c.598G>T c.(598-600)GGC>TGC p.G200C P2RY6_uc001otn.2_Missense_Mutation_p.G200C|P2RY6_uc001oto.2_Missense_Mutation_p.G200C|P2RY6_uc001otp.2_Missense_Mutation_p.G200C|P2RY6_uc001otq.2_Missense_Mutation_p.G200C|P2RY6_uc001otr.2_Missense_Mutation_p.G200C|P2RY6_uc001ots.2_Missense_Mutation_p.G200C NM_176796 NP_789766 Q15077 P2RY6_HUMAN pyrimidinergic receptor P2Y6 200 Helical; Name=5; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 CACTGTCATCGGCTTCCTGCT 0.657 NA 16 174 5.04e-11 6.89e-11 1 0 ARHGAP20 57569 broad.mit.edu 37 11 110450456 110450456 + Missense_Mutation SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr11:110450456C>T uc001pkz.1 - 16 3499 c.3214G>A c.(3214-3216)GAG>AAG p.E1072K ARHGAP20_uc001pky.1_Missense_Mutation_p.E1049K|ARHGAP20_uc009yyb.1_Missense_Mutation_p.E1036K|ARHGAP20_uc001pla.1_Missense_Mutation_p.E1036K|ARHGAP20_uc001plb.2_Missense_Mutation_p.E615K NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 1072 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) GGGGGTGGCTCTAAGGGTCCT 0.498 NA 7 159 0 0 0 0 PIWIL1 9271 broad.mit.edu 37 12 130831541 130831541 + Missense_Mutation SNP C C A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr12:130831541C>A uc001uik.2 + 6 677 c.587C>A c.(586-588)ACT>AAT p.T196N PIWIL1_uc001uij.1_Missense_Mutation_p.T196N NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 196 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) ATAACGATCACTTTAACAAAT 0.333 NA 5 49 0.00116845 0.00143865 1 0 RFXAP 5994 broad.mit.edu 37 13 37399599 37399599 + Missense_Mutation SNP A A C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr13:37399599A>C uc001uvu.1 + 2 791 c.635A>C c.(634-636)CAA>CCA p.Q212P NM_000538 NP_000529 O00287 RFXAP_HUMAN regulatory factor X-associated protein 212 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1) 1 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405) ATTGTTAAACAAAGAACAGGA 0.318 NA 4 81 0 0 0 0 FREM2 341640 broad.mit.edu 37 13 39358893 39358893 + Silent SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr13:39358893C>T uc001uwv.2 + 6 6276 c.5967C>T c.(5965-5967)ATC>ATT p.I1989I FREM2_uc001uww.2_Silent_p.I75I NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1989 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) GGGGAAGAATCGGATCAGAGT 0.448 NA 4 39 0 0 0 0 HNRNPA1L2 144983 broad.mit.edu 37 13 53217477 53217477 + Nonsense_Mutation SNP A A T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr13:53217477A>T uc001vgx.1 + 7 1923 c.850A>T c.(850-852)AGA>TGA p.R284* HNRNPA1L2_uc001vgy.1_Nonsense_Mutation_p.R284*|HNRNPA1L2_uc001vgz.1_Nonsense_Mutation_p.R284* NM_001011724 NP_001011724 Q32P51 RA1L2_HUMAN heterogeneous nuclear ribonucleoprotein A1-like 284 Nuclear targeting sequence (By similarity).|Gly-rich. mRNA processing|mRNA transport|RNA splicing cytoplasm|spliceosomal complex nucleotide binding|RNA binding 0 TTTTGGAGGCAGAAGCTCTGG 0.418 NA 5 101 0 0 0 0 ZNF828 283489 broad.mit.edu 37 13 115090169 115090169 + Silent SNP A A T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr13:115090169A>T uc010ahb.2 + 3 1181 c.852A>T c.(850-852)TCA>TCT p.S284S ZNF828_uc001vuv.2_Silent_p.S284S|ZNF828_uc010tko.1_Silent_p.S284S NM_001164144 NP_001157616 Q96JM3 ZN828_HUMAN zinc finger protein 828 284 Mediates interaction with MAD2L2.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_epithelial(44;0.122)|all_lung(25;0.123) BRCA - Breast invasive adenocarcinoma(86;0.104) OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197) CATCCCCTTCAGAGTCTCCTG 0.617 NA 5 73 0 0 0 0 MYH6 4624 broad.mit.edu 37 14 23863348 23863348 + Missense_Mutation SNP G G T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr14:23863348G>T uc001wjv.2 - 21 2681 c.2614C>A c.(2614-2616)CGC>AGC p.R872S NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 872 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) AGCTCCTTGCGGCGAGCCTCG 0.592 NA 9 81 1.05e-14 1.47e-14 1 0 NID2 22795 broad.mit.edu 37 14 52508964 52508964 + Missense_Mutation SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr14:52508964C>T uc001wzo.2 - 7 1918 c.1684G>A c.(1684-1686)GAT>AAT p.D562N NID2_uc010tqs.1_Missense_Mutation_p.D562N|NID2_uc010tqt.1_Missense_Mutation_p.D562N|NID2_uc001wzp.2_Missense_Mutation_p.D562N NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 562 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) GCTCTGCCATCATTGCCCACG 0.597 NA 16 198 0 0 0 0 FGF7 2252 broad.mit.edu 37 15 49776562 49776562 + Missense_Mutation SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr15:49776562A>G uc001zxn.2 + 4 975 c.446A>G c.(445-447)AAC>AGC p.N149S C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.2_Intron NM_002009 NP_002000 P21781 FGF7_HUMAN fibroblast growth factor 7 precursor 149 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity 0 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) AACCATTACAACACATATGCA 0.328 NA 3 47 0 0 0 0 SLC24A1 9187 broad.mit.edu 37 15 65936825 65936825 + Missense_Mutation SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr15:65936825A>G uc010ujf.1 + 5 2401 c.2114A>G c.(2113-2115)CAG>CGG p.Q705R SLC24A1_uc010ujd.1_Missense_Mutation_p.Q687R|SLC24A1_uc010uje.1_Missense_Mutation_p.Q687R|SLC24A1_uc010ujg.1_Missense_Mutation_p.Q705R|SLC24A1_uc010ujh.1_Missense_Mutation_p.Q687R|SLC24A1_uc010uji.1_Missense_Mutation_p.Q32R NM_004727 NP_004718 O60721 NCKX1_HUMAN solute carrier family 24 705 Cytoplasmic (Potential). response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity 0 GCCCAACCCCAGGCCAAAGCA 0.547 NA 2 6 0 0 0 0 LASS3 204219 broad.mit.edu 37 15 101016321 101016321 + Missense_Mutation SNP T T A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr15:101016321T>A uc002bvz.2 - 9 1081 c.579A>T c.(577-579)TTA>TTT p.L193F LASS3_uc002bwa.2_Missense_Mutation_p.L204F|LASS3_uc002bwb.2_Missense_Mutation_p.L193F NM_178842 NP_849164 Q8IU89 CERS3_HUMAN LAG1 longevity assurance homolog 3 193 Helical; (Potential).|TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) CAAGTCTAAATAACAGAGACC 0.363 NA 7 97 0 0 0 0 GPR139 124274 broad.mit.edu 37 16 20043921 20043921 + Silent SNP G G C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr16:20043921G>C uc002dgu.1 - 2 360 c.198C>G c.(196-198)CTC>CTG p.L66L GPR139_uc010vaw.1_5'UTR NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 66 Helical; Name=2; (Potential). integral to membrane|plasma membrane ovary(2) 2 CGAGTGCCAAGAGATAGTTGT 0.468 NA 3 44 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578449 7578450 + Missense_Mutation DNP CC CC AA TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr17:7578449_7578450CC>AA uc002gim.2 - 5 674_675 c.480_481GG>TT c.(478-483)ATGGCC>ATTTCC p.160_161MA>IS TP53_uc002gig.1_Missense_Mutation_p.160_161MA>IS|TP53_uc002gih.2_Missense_Mutation_p.160_161MA>IS|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.28_29MA>IS|TP53_uc010cng.1_Missense_Mutation_p.28_29MA>IS|TP53_uc002gii.1_Missense_Mutation_p.28_29MA>IS|TP53_uc010cnh.1_Missense_Mutation_p.160_161MA>IS|TP53_uc010cni.1_Missense_Mutation_p.160_161MA>IS|TP53_uc002gij.2_Missense_Mutation_p.160_161MA>IS|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.67_68MA>IS|TP53_uc002gio.2_Missense_Mutation_p.28_29MA>IS|TP53_uc010vug.1_Missense_Mutation_p.121_122MA>IS NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 160_161 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> T (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.A161T(44)|p.0?(7)|p.M160I(6)|p.M160K(4)|p.M160V(4)|p.M160L(3)|p.M160fs*10(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.M160T(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.A161fs*20(1)|p.V157_M160delVRAM(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(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) TTGTAGATGGCCATGGCGCGGA 0.634 111 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) 6 70 0 0 0 0 SLC47A1 55244 broad.mit.edu 37 17 19470127 19470127 + Missense_Mutation SNP G G T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr17:19470127G>T uc002gvy.1 + 13 1217 c.1131G>T c.(1129-1131)CAG>CAT p.Q377H SLC47A1_uc002gvx.2_Missense_Mutation_p.Q377H|SLC47A1_uc010vyz.1_Missense_Mutation_p.Q354H|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.Q182H|SLC47A1_uc010vza.1_Missense_Mutation_p.Q89H|SLC47A1_uc010vzb.1_Missense_Mutation_p.Q111H|SLC47A1_uc010vzc.1_Missense_Mutation_p.Q49H NM_018242 NP_060712 Q96FL8 S47A1_HUMAN solute carrier family 47, member 1 377 Helical; (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) TGGTGGCTCAGGTGGTTCCAA 0.378 NA 5 57 0.00116845 0.00143865 1 0 SSH2 85464 broad.mit.edu 37 17 27958126 27958126 + Silent SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr17:27958126C>T uc002heo.1 - 15 4005 c.4005G>A c.(4003-4005)CAG>CAA p.Q1335Q SSH2_uc010wbh.1_Silent_p.Q1362Q NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 1335 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 CTGGCTTGCTCTGCACAATAC 0.507 NA 4 54 0 0 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43522926 43522926 + Missense_Mutation SNP T T G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr17:43522926T>G uc002ija.2 - 9 2917 c.2747A>C c.(2746-2748)CAC>CCC p.H916P PLEKHM1_uc010wjm.1_Missense_Mutation_p.H888P|PLEKHM1_uc002ijb.2_Missense_Mutation_p.H391P|PLEKHM1_uc010wjn.1_Missense_Mutation_p.H865P NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 916 intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) CCCAATGAGGTGCATCCGCTC 0.617 NA 6 73 0 0 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43522928 43522928 + Missense_Mutation SNP C C A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr17:43522928C>A uc002ija.2 - 9 2915 c.2745G>T c.(2743-2745)ATG>ATT p.M915I PLEKHM1_uc010wjm.1_Missense_Mutation_p.M887I|PLEKHM1_uc002ijb.2_Missense_Mutation_p.M390I|PLEKHM1_uc010wjn.1_Missense_Mutation_p.M864I NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 915 intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) CAATGAGGTGCATCCGCTCCA 0.612 NA 6 75 0.00448238 0.00535169 1 0 CASKIN2 57513 broad.mit.edu 37 17 73499583 73499583 + Missense_Mutation SNP G G T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr17:73499583G>T uc002joc.2 - 17 2256 c.1706C>A c.(1705-1707)GCA>GAA p.A569E CASKIN2_uc010wsc.1_Missense_Mutation_p.A487E NM_020753 NP_065804 Q8WXE0 CSKI2_HUMAN cask-interacting protein 2 isoform a 569 SAM 2. cytoplasm pancreas(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CAGCCCCAGTGCACACAGCCA 0.642 NA 4 41 1.02e-07 1.38e-07 1 0 ALPK2 115701 broad.mit.edu 37 18 56203268 56203268 + Missense_Mutation SNP T T C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr18:56203268T>C uc002lhj.3 - 5 4365 c.4151A>G c.(4150-4152)GAT>GGT p.D1384G ALPK2_uc002lhk.1_Missense_Mutation_p.D715G NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1384 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 GGCAGTGTGATCCATCTTGAG 0.428 NA 4 118 0 0 0 0 THEG 51298 broad.mit.edu 37 19 371324 371324 + Splice_Site SNP T T A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr19:371324T>A uc002lol.2 - 6 675 c.636_splice c.e6-1 p.R212_splice THEG_uc002lom.2_Splice_Site_p.R188_splice NM_016585 NP_057669 Q9P2T0 THEG_HUMAN Theg homolog isoform 1 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding ovary(1) 1 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGTCGTCCTGGGGGAGGTC 0.463 NA 6 163 0 0 0 0 STXBP2 6813 broad.mit.edu 37 19 7709561 7709561 + Missense_Mutation SNP T T C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr19:7709561T>C uc002mha.3 + 14 1214 c.1169T>C c.(1168-1170)GTT>GCT p.V390A STXBP2_uc002mhb.3_Missense_Mutation_p.V387A|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.V401A|STXBP2_uc010dvk.2_Missense_Mutation_p.V358A|STXBP2_uc002mhc.3_Missense_Mutation_p.V158A|STXBP2_uc002mhe.1_Missense_Mutation_p.V18A NM_006949 NP_008880 Q15833 STXB2_HUMAN syntaxin binding protein 2 isoform a 390 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding central_nervous_system(1) 1 AAGCTGATCGTTCCGGTGCTG 0.652 NA 4 53 0 0 0 0 HRC 3270 broad.mit.edu 37 19 49657229 49657229 + Silent SNP G G C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr19:49657229G>C uc002pmv.2 - 1 1453 c.1266C>G c.(1264-1266)GTC>GTG p.V422V NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein 422 muscle contraction sarcoplasmic reticulum lumen calcium ion binding ovary(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) CCTCCCTGGGGACTCTGTGGT 0.537 NA 3 93 0 0 0 0 BOLA3 388962 broad.mit.edu 37 2 74362737 74362737 + Missense_Mutation SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr2:74362737A>G uc002skc.1 - 4 345 c.307T>C c.(307-309)TCT>CCT p.S103P BOLA3_uc002skd.1_Missense_Mutation_p.L73P NM_212552 NP_997717 Q53S33 BOLA3_HUMAN bolA-like 3 isoform 1 103 extracellular region 0 TTGGGGACAGAGGTAAATATC 0.428 NA 3 67 0 0 0 0 CD8A 925 broad.mit.edu 37 2 87013080 87013080 + Nonsense_Mutation SNP G G T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr2:87013080G>T uc002srt.2 - 6 1560 c.671C>A c.(670-672)TCG>TAG p.S224* RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Nonsense_Mutation_p.S224*|CD8A_uc010ytn.1_Nonsense_Mutation_p.S265*|CD8A_uc002sru.2_Nonsense_Mutation_p.S187* NM_001768 NP_001759 P01732 CD8A_HUMAN CD8 antigen alpha polypeptide isoform 1 224 Cytoplasmic (Potential). antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding ovary(1) 1 CTTGTCTCCCGATTTGACCAC 0.547 NA 7 163 5.18e-06 6.85e-06 1 0 THSD7B 80731 broad.mit.edu 37 2 137928343 137928343 + Missense_Mutation SNP G G A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr2:137928343G>A uc002tva.1 + 6 1465 c.1465G>A c.(1465-1467)GAA>AAA p.E489K THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.E379K NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) TGTCCTCATGGAATCTACAGG 0.473 NA 4 60 0 0 0 0 FAP 2191 broad.mit.edu 37 2 163039967 163039967 + Missense_Mutation SNP T T G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr2:163039967T>G uc002ucd.2 - 21 2034 c.1826A>C c.(1825-1827)GAA>GCA p.E609A FAP_uc010fpc.2_Missense_Mutation_p.E158A|FAP_uc010zct.1_Missense_Mutation_p.E584A|FAP_uc010fpd.2_Missense_Mutation_p.E88A NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 609 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 GAAACCCATTTCTATGAATTT 0.284 NA 4 81 0 0 0 0 ATP5G3 518 broad.mit.edu 37 2 176043850 176043850 + Silent SNP T T C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr2:176043850T>C uc002ujz.3 - 3 519 c.249A>G c.(247-249)GTA>GTG p.V83V ATP5G3_uc002uka.3_Silent_p.V83V|ATP5G3_uc002ukb.1_Silent_p.V83V NM_001002258 NP_001002258 P48201 AT5G3_HUMAN ATP synthase, H+ transporting, mitochondrial F0 83 Helical; (Potential). ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.147) CAGCCACTCCTACTGTTGCAG 0.443 NA 3 67 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179399269 179399269 + Missense_Mutation SNP C C G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr2:179399269C>G uc010zfg.1 - 307 94593 c.94369G>C c.(94369-94371)GAG>CAG p.E31457Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E25152Q|TTN_uc010zfi.1_Missense_Mutation_p.E25085Q|TTN_uc010zfj.1_Missense_Mutation_p.E24960Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32384 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGATATTCTCAATGATCTGT 0.413 NA 3 103 0 0 0 0 POTEH 23784 broad.mit.edu 37 22 16279264 16279264 + Missense_Mutation SNP T T A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr22:16279264T>A uc010gqp.2 - 4 1011 c.959A>T c.(958-960)CAA>CTA p.Q320L POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Missense_Mutation_p.Q39L|POTEH_uc002zlj.1_Missense_Mutation_p.Q155L NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 320 ANK 5. skin(1) 1 TTGCTGTTTTTGCTCATGTAC 0.328 NA 6 376 0 0 0 0 NDUFAF3 25915 broad.mit.edu 37 3 49060398 49060398 + Missense_Mutation SNP G G T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr3:49060398G>T uc003cvq.2 + 4 931 c.427G>T c.(427-429)GTG>TTG p.V143L DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|uc011bcb.1_5'Flank|MIR425_hsa-mir-425|MI0001448_5'Flank|NDUFAF3_uc003cvn.2_Missense_Mutation_p.V86L|uc003cvo.1_5'Flank|MIR191_hsa-mir-191|MI0000465_5'Flank|NDUFAF3_uc003cvp.2_Missense_Mutation_p.V86L|NDUFAF3_uc003cvr.2_Missense_Mutation_p.V86L|NDUFAF3_uc003cvs.2_Missense_Mutation_p.V86L NM_199069 NP_951032 Q9BU61 NDUF3_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 143 mitochondrial respiratory chain complex I assembly mitochondrial inner membrane|nucleus protein binding 0 TGCTGTGGAAGTGCAGGACAC 0.637 NA 4 95 0.00024832 0.000321836 1 0 CPOX 1371 broad.mit.edu 37 3 98304334 98304334 + Missense_Mutation SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr3:98304334C>T uc003dsx.2 - 5 1216 c.1123G>A c.(1123-1125)GAC>AAC p.D375N NM_000097 NP_000088 P36551 HEM6_HUMAN coproporphyrinogen oxidase precursor 375 mitochondrial intermembrane space coproporphyrinogen oxidase activity|protein homodimerization activity 0 GTGAATGAGTCATCACAGTGC 0.517 NA 7 234 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178947827 178947827 + Missense_Mutation SNP G G T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr3:178947827G>T uc003fjk.2 + 19 2859 c.2702G>T c.(2701-2703)TGT>TTT p.C901F NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 901 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.C901F(3) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ACACGTTCATGTGCTGGATAC 0.388 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 16 174 2.49e-13 3.45e-13 1 0 SENP5 205564 broad.mit.edu 37 3 196612189 196612189 + Missense_Mutation SNP G G A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr3:196612189G>A uc003fwz.3 + 2 386 c.137G>A c.(136-138)AGG>AAG p.R46K SENP5_uc011bty.1_Missense_Mutation_p.R46K NM_152699 NP_689912 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 46 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity breast(2)|lung(1) 3 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) AAGCTGGGAAGGCCAGTTACT 0.413 NA 4 46 0 0 0 0 USP53 54532 broad.mit.edu 37 4 120169908 120169908 + Missense_Mutation SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr4:120169908A>G uc003ics.3 + 6 1309 c.243A>G c.(241-243)ATA>ATG p.I81M USP53_uc003icr.3_Missense_Mutation_p.I81M|USP53_uc003icu.3_Translation_Start_Site NM_019050 NP_061923 Q70EK8 UBP53_HUMAN ubiquitin specific protease 53 81 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity ovary(1)|breast(1)|kidney(1)|skin(1) 4 CCCAGACGATATTTGCACAGT 0.378 NA 4 49 0 0 0 0 RAB33B 83452 broad.mit.edu 37 4 140394046 140394046 + Missense_Mutation SNP G G C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr4:140394046G>C uc003ihv.2 + 2 845 c.456G>C c.(454-456)TTG>TTC p.L152F NM_031296 NP_112586 Q9H082 RB33B_HUMAN RAB33B, member RAS oncogene family 152 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding 0 all_hematologic(180;0.162) AATGTGACTTGAGAAGTGCCA 0.398 NA 4 126 0 0 0 0 DCHS2 54798 broad.mit.edu 37 4 155278384 155278384 + Missense_Mutation SNP G G C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr4:155278384G>C uc003inw.2 - 6 787 c.787C>G c.(787-789)CTA>GTA p.L263V DCHS2_uc003inx.2_Intron NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 263 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) aagtgccttagcagaggtaaa 0 NA 11 136 0 0 0 0 PCDHB2 56133 broad.mit.edu 37 5 140476001 140476001 + Silent SNP T T C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr5:140476001T>C uc003lil.2 + 1 1765 c.1627T>C c.(1627-1629)TTG>CTG p.L543L PCDHB2_uc003lim.1_Silent_p.L204L NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 543 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCCCGGCGTTGAGCAGCGA 0.706 NA 6 89 0 0 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140734835 140734835 + Missense_Mutation SNP T T C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr5:140734835T>C uc003ljq.1 + 1 68 c.68T>C c.(67-69)CTG>CCG p.L23P PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.L23P NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 23 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGGGGTTCTGGTGGAAATC 0.637 NA 6 73 0 0 0 0 ADAM19 8728 broad.mit.edu 37 5 156934137 156934137 + Missense_Mutation SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr5:156934137A>G uc003lwz.2 - 10 981 c.917T>C c.(916-918)TTC>TCC p.F306S ADAM19_uc003lww.1_Missense_Mutation_p.F39S|ADAM19_uc011ddr.1_Missense_Mutation_p.F237S NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 306 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGTGCCGTGGAAGGACATGCC 0.617 NA 3 80 0 0 0 0 RIMS1 22999 broad.mit.edu 37 6 72968708 72968708 + Missense_Mutation SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr6:72968708C>T uc003pga.2 + 18 3024 c.2947C>T c.(2947-2949)CCA>TCA p.P983S RIMS1_uc011dyb.1_Missense_Mutation_p.P608S|RIMS1_uc003pgc.2_Missense_Mutation_p.P609S|RIMS1_uc010kaq.2_Missense_Mutation_p.P456S|RIMS1_uc011dyc.1_Missense_Mutation_p.P457S|RIMS1_uc010kar.2_Missense_Mutation_p.P376S|RIMS1_uc011dyd.1_Missense_Mutation_p.P442S|RIMS1_uc003pgf.2_Missense_Mutation_p.P199S|RIMS1_uc003pgg.2_Missense_Mutation_p.P200S|RIMS1_uc003pgi.2_Missense_Mutation_p.P199S|RIMS1_uc003pgh.2_Missense_Mutation_p.P199S|RIMS1_uc003pgd.2_Missense_Mutation_p.P200S|RIMS1_uc003pge.2_Missense_Mutation_p.P200S|RIMS1_uc011dye.1_5'UTR|RIMS1_uc011dyf.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.P609S|RIMS1_uc010kas.1_Missense_Mutation_p.P442S NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 983 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) TGAAATTCATCCAACAAGAAG 0.388 NA 6 90 0 0 0 0 PDE1C 5137 broad.mit.edu 37 7 31862847 31862847 + Silent SNP G G A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr7:31862847G>A uc003tcm.1 - 14 1891 c.1422C>T c.(1420-1422)AGC>AGT p.S474S PDE1C_uc003tcn.1_Silent_p.S474S|PDE1C_uc003tco.1_Silent_p.S534S|PDE1C_uc003tcr.2_Silent_p.S474S|PDE1C_uc003tcs.2_Silent_p.S474S NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 474 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) CATCTGACGAGCTGATGCTAT 0.438 NA 4 54 0 0 0 0 SEMA3C 10512 broad.mit.edu 37 7 80546045 80546045 + Missense_Mutation SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr7:80546045C>T uc003uhj.2 - 2 615 c.53G>A c.(52-54)TGT>TAT p.C18Y SEMA3C_uc011kgw.1_Missense_Mutation_p.C36Y|SEMA3C_uc011kgx.1_Translation_Start_Site NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 18 immune response|response to drug membrane receptor activity ovary(1) 1 TCCTTTCACACAGATAGAACA 0.348 NA 9 54 0 0 0 0 NPTX2 4885 broad.mit.edu 37 7 98254269 98254269 + Missense_Mutation SNP G G C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr7:98254269G>C uc003upl.2 + 3 856 c.679G>C c.(679-681)GTG>CTG p.V227L NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 227 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) TGCGTTCAAGGTGTCCCTCCC 0.607 NA 19 226 0 0 0 0 OR9A4 130075 broad.mit.edu 37 7 141618783 141618783 + Silent SNP G G A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr7:141618783G>A uc003vwu.1 + 1 108 c.108G>A c.(106-108)GTG>GTA p.V36V NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, 36 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.0171) TCTACTTGGTGACATTAATGG 0.428 NA 6 157 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 4494966 4494966 + Missense_Mutation SNP C C G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr8:4494966C>G uc011kwk.1 - 2 590 c.200G>C c.(199-201)CGC>CCC p.R67P NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 67 Extracellular (Potential).|CUB 1. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TATCCTATTGCGCTCGCCCGT 0.468 NA 4 101 0 0 0 0 PXDNL 137902 broad.mit.edu 37 8 52320759 52320759 + Missense_Mutation SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr8:52320759A>G uc003xqu.3 - 17 3526 c.3425T>C c.(3424-3426)ATT>ACT p.I1142T PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1142 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ACCCCTTTGAATGATGGTGGC 0.493 NA 5 122 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113249436 113249436 + Missense_Mutation SNP A A T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr8:113249436A>T uc003ynu.2 - 67 10769 c.10610T>A c.(10609-10611)ATG>AAG p.M3537K CSMD3_uc003yns.2_Missense_Mutation_p.M2739K|CSMD3_uc003ynt.2_Missense_Mutation_p.M3497K|CSMD3_uc011lhx.1_Missense_Mutation_p.M3368K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3537 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TAGCAGCTCCATGTTGCTATT 0.353 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 94 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113662433 113662433 + Nonsense_Mutation SNP G G T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr8:113662433G>T uc003ynu.2 - 19 3309 c.3150C>A c.(3148-3150)TGC>TGA p.C1050* CSMD3_uc003yns.2_Nonsense_Mutation_p.C322*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.C1010*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.C946* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1050 Extracellular (Potential).|Sushi 5. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GGTTTTTTTCGCATAGAAGGG 0.393 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 90 0.000602214 0.000760489 1 0 SHARPIN 81858 broad.mit.edu 37 8 145154650 145154650 + Silent SNP C C G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr8:145154650C>G uc003zba.2 - 4 1099 c.615G>C c.(613-615)CTG>CTC p.L205L SHARPIN_uc003zbb.2_RNA NM_030974 NP_112236 Q9H0F6 SHRPN_HUMAN shank-interacting protein-like 1 205 Interaction with SHANK1 (By similarity). negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway cytosol|LUBAC complex polyubiquitin binding|zinc ion binding ovary(1) 1 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTGAACACTCAGGGCCACAC 0.652 NA 3 74 0 0 0 0 ZNF658 26149 broad.mit.edu 37 9 40774387 40774387 + Missense_Mutation SNP G G C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr9:40774387G>C uc004abs.2 - 5 1040 c.888C>G c.(886-888)CAC>CAG p.H296Q ZNF658_uc010mmm.1_Missense_Mutation_p.H296Q|ZNF658_uc010mmn.1_Missense_Mutation_p.H296Q NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 296 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TACACTCATAGTGTGTCATAG 0.403 NA 18 167 0 0 0 0 LPPR1 54886 broad.mit.edu 37 9 104075140 104075140 + Missense_Mutation SNP C C A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr9:104075140C>A uc004bbb.2 + 6 1096 c.697C>A c.(697-699)CTC>ATC p.L233I LPPR1_uc011lvi.1_Missense_Mutation_p.L209I|LPPR1_uc004bbc.2_Missense_Mutation_p.L233I|LPPR1_uc010mtc.2_Missense_Mutation_p.L217I NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN plasticity related gene 3 233 Helical; (Potential). integral to membrane catalytic activity 0 GGTGCTGTGCCTCGGAACTCT 0.567 NA 10 94 0.00136819 0.00167413 1 0 GRIN3A 116443 broad.mit.edu 37 9 104448991 104448991 + Silent SNP T T G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr9:104448991T>G uc004bbp.1 - 2 1792 c.1191A>C c.(1189-1191)GCA>GCC p.A397A GRIN3A_uc004bbq.1_Silent_p.A397A NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 397 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CTACAGCTCTTGCGACCAGCT 0.498 NA 14 69 0 0 0 0 FCN1 2219 broad.mit.edu 37 9 137801651 137801651 + Missense_Mutation SNP G G T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr9:137801651G>T uc004cfi.2 - 9 1066 c.974C>A c.(973-975)CCC>CAC p.P325H NM_002003 NP_001994 O00602 FCN1_HUMAN ficolin 1 precursor 325 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding large_intestine(1)|ovary(1) 2 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) CGTCTAGGCGGGCCGCACCTT 0.592 NA 8 73 0.00307968 0.00369937 1 0 HUWE1 10075 broad.mit.edu 37 X 53571698 53571698 + Missense_Mutation SNP T T G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chrX:53571698T>G uc004dsp.2 - 72 11476 c.11074A>C c.(11074-11076)ATT>CTT p.I3692L HUWE1_uc004dsn.2_Missense_Mutation_p.I2500L|HUWE1_uc004dsq.1_Missense_Mutation_p.I7L NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3692 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GATGCCACAATTACCACATTC 0.483 NA 4 39 0 0 0 0 ZMAT1 84460 broad.mit.edu 37 X 101138797 101138797 + Silent SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chrX:101138797A>G uc004eim.2 - 2 4587 c.1089T>C c.(1087-1089)CAT>CAC p.H363H ZMAT1_uc011mrl.1_Silent_p.H534H|ZMAT1_uc004ein.2_Silent_p.H363H|ZMAT1_uc011mrm.1_Silent_p.H363H NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 363 nucleus zinc ion binding ovary(1) 1 GTTTCTGTTTATGACCTGCTT 0.383 NA 4 51 0 0 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280605 105280605 + Missense_Mutation SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chrX:105280605C>T uc004eme.1 - 1 461 c.445G>A c.(445-447)GAT>AAT p.D149N SERPINA7_uc010npd.2_Missense_Mutation_p.D149N|SERPINA7_uc010npe.1_Missense_Mutation_p.D149N NM_000354 NP_000345 P05543 THBG_HUMAN serine (or cysteine) proteinase inhibitor, clade 149 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity 0 Levothyroxine(DB00451)|Liothyronine(DB00279) GTCTTGACATCATTCAAGAAC 0.428 NA 6 95 0 0 0 0 SLC6A14 11254 broad.mit.edu 37 X 115582641 115582641 + Missense_Mutation SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chrX:115582641C>T uc004eqi.2 + 8 1069 c.965C>T c.(964-966)TCC>TTC p.S322F NM_007231 NP_009162 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid 322 Helical; Name=6; (Potential). cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2)|pancreas(1) 3 L-Proline(DB00172) ATATTTTACTCCCTTTCAGTG 0.303 NA 5 46 0 0 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994645 140994645 + Silent SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chrX:140994645C>T uc004fbt.2 + 4 1741 c.1455C>T c.(1453-1455)TCC>TCT p.S485S MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 485 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TGAGCTCCTCCTCCTCCTCCT 0.478 NA HNSCC(15;0.026) 7 126 0 0 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870027 151870027 + Missense_Mutation SNP C C G rs144083108 TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chrX:151870027C>G uc004ffq.1 + 3 911 c.717C>G c.(715-717)TTC>TTG p.F239L MAGEA6_uc004ffr.1_Missense_Mutation_p.F239L|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 239 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) ACAGTATCTTCGGGGATCCCA 0.537 NA 10 124 0 0 0 0 DRGX 644168 broad.mit.edu 37 10 50574313 50574313 + Frame_Shift_Del DEL G G - TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr10:50574313delG uc010qgq.1 - 6 655 c.655delC c.(655-657)CGCfs p.R219fs NM_001080520 NP_001073989 A6NNA5 DRGX_HUMAN dorsal root ganglia homeobox 219 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GAGTGCTCGCGGGCCTTCATG 0.672 NA 11 111 --- --- --- --- NA NA NA NA LMTK3 114783 broad.mit.edu 37 19 49014769 49014769 + Frame_Shift_Del DEL G G - TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr19:49014769delG uc002pjk.2 - 2 152 c.152delC c.(151-153)CCGfs p.P51fs NM_001080434 NP_001073903 lemur tyrosine kinase 3 lung(5)|central_nervous_system(1) 6 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GGGGTGGGCCGGGGACGCCAG 0.741 NA 2 4 --- --- --- --- NA NA NA NA C6orf174 387104 broad.mit.edu 37 6 127796926 127796926 + Frame_Shift_Del DEL G G - TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr6:127796926delG uc003qbd.2 - 6 3110 c.2245delC c.(2245-2247)CGCfs p.R749fs C6orf174_uc003qbc.2_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 749 integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) TCGCTGTCGCGGGGGCTGCCG 0.692 NA 9 165 --- --- --- --- NA NA NA NA