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 RNF220 55182 broad.mit.edu 37 1 44878151 44878151 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:44878151G>A uc001clv.1 + 2 742 c.382G>A c.(382-384)GAC>AAC p.D128N RNF220_uc001clw.1_Missense_Mutation_p.D128N NM_018150 NP_060620 Q5VTB9 RN220_HUMAN ring finger protein 220 128 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CTCCACCGAGGACCGGGAGAG 0.552 NA 25 95 0 0 0 0 C1orf163 65260 broad.mit.edu 37 1 53158471 53158471 + Missense_Mutation SNP T T C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:53158471T>C uc001cui.1 - 2 215 c.175A>G c.(175-177)AAG>GAG p.K59E NM_023077 NP_075565 Q96BR5 SELR1_HUMAN hypothetical protein LOC65260 59 Sel1-like 1. binding 0 CAGTTAAACTTCAACACCTTG 0.498 NA 22 67 0 0 0 0 HOOK1 51361 broad.mit.edu 37 1 60309235 60309235 + Silent SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:60309235A>G uc009wad.2 + 10 855 c.753A>G c.(751-753)CAA>CAG p.Q251Q HOOK1_uc001czo.2_Silent_p.Q251Q|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Silent_p.Q209Q NM_015888 NP_056972 Q9UJC3 HOOK1_HUMAN hook homolog 1 251 Potential.|Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding ovary(1)|breast(1) 2 all_cancers(7;0.000129) TTCATGCACAATTACAACTAG 0.333 NA 14 31 0 0 0 0 WDR63 126820 broad.mit.edu 37 1 85547058 85547058 + Missense_Mutation SNP C C A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:85547058C>A uc001dkt.2 + 4 436 c.245C>A c.(244-246)GCT>GAT p.A82D WDR63_uc009wcl.2_Missense_Mutation_p.A82D NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 82 p.A82D(1) upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) CGCAACAGAGCTGCAGTATCT 0.368 NA 13 50 0.000308642 0.000331116 1 0 SASS6 163786 broad.mit.edu 37 1 100591488 100591488 + Missense_Mutation SNP T T C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:100591488T>C uc001dsu.2 - 2 217 c.76A>G c.(76-78)ATA>GTA p.I26V SASS6_uc009wdz.2_5'UTR NM_194292 NP_919268 Q6UVJ0 SAS6_HUMAN spindle assembly abnormal protein 6 26 centriole replication centriole p.I26V(1) upper_aerodigestive_tract(1)|ovary(1) 2 all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197) CTCATTCTTATACTTACTCTC 0.333 NA 22 58 0 0 0 0 VAV3 10451 broad.mit.edu 37 1 108116684 108116684 + Silent SNP T T A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:108116684T>A uc001dvk.1 - 26 2541 c.2487A>T c.(2485-2487)GGA>GGT p.G829G VAV3_uc010ouu.1_Silent_p.G261G|VAV3_uc001dvj.1_Silent_p.G269G|VAV3_uc010ouv.1_Silent_p.G233G|VAV3_uc010ouw.1_Silent_p.G857G NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 829 SH3 2. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CATTTACTTCTCCTCTCCACC 0.483 NA 47 209 0 0 0 0 LRIG2 9860 broad.mit.edu 37 1 113657294 113657294 + Missense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:113657294C>T uc001edf.1 + 15 2524 c.2326C>T c.(2326-2328)CGT>TGT p.R776C LRIG2_uc009wgn.1_Missense_Mutation_p.R673C NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 776 Ig-like C2-type 3.|Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TGGGACAGAACGTGGCCACAT 0.463 NA 25 104 0 0 0 0 HIPK1 204851 broad.mit.edu 37 1 114499830 114499830 + Silent SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:114499830C>T uc001eem.2 + 7 1838 c.1677C>T c.(1675-1677)TTC>TTT p.F559F HIPK1_uc001eel.2_Silent_p.F559F|HIPK1_uc001een.2_Silent_p.F559F|HIPK1_uc001eeo.2_Silent_p.F185F|HIPK1_uc001eep.2_Silent_p.F165F NM_198268 NP_938009 Q86Z02 HIPK1_HUMAN homeodomain-interacting protein kinase 1 isoform 559 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(4) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGAGTCCCTTCACTACACATG 0.393 NA 12 43 0 0 0 0 IGSF3 3321 broad.mit.edu 37 1 117158883 117158883 + Silent SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:117158883G>A uc001egr.1 - 3 945 c.240C>T c.(238-240)CCC>CCT p.P80P IGSF3_uc001egq.1_Silent_p.P80P NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 80 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) AGATGGCATAGGGGAAGGAAG 0.557 NA 6 41 0 0 0 0 CHD1L 9557 broad.mit.edu 37 1 146739091 146739091 + Missense_Mutation SNP T T G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:146739091T>G uc001epm.3 + 9 965 c.902T>G c.(901-903)TTT>TGT p.F301C uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.F188C|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.F301C|CHD1L_uc010ozp.1_Missense_Mutation_p.F20C|CHD1L_uc001epo.3_Missense_Mutation_p.F97C|CHD1L_uc010ozq.1_Translation_Start_Site|CHD1L_uc009wji.2_Missense_Mutation_p.F20C NM_004284 NP_004275 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 301 chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding p.F301C(1) ovary(3)|lung(2)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.0487) TCAGATGCATTTGAAAATGAG 0.353 NA 9 28 0 0 0 0 HRNR 388697 broad.mit.edu 37 1 152188024 152188024 + Silent SNP C C T rs142170860 TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:152188024C>T uc001ezt.1 - 3 6157 c.6081G>A c.(6079-6081)TCG>TCA p.S2027S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2027 22 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCCACAGCTCGATGACTGTC 0.562 NA 82 678 0 0 0 0 APCS 325 broad.mit.edu 37 1 159558171 159558171 + Silent SNP G G C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:159558171G>C uc001ftv.2 + 2 441 c.345G>C c.(343-345)GTG>GTC p.V115V NM_001639 NP_001630 P02743 SAMP_HUMAN serum amyloid P component precursor 115 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding ovary(1)|breast(1) 2 all_hematologic(112;0.0429) ACATCTGTGTGAGCTGGGAGT 0.433 NA 12 55 0 0 0 0 ITLN1 55600 broad.mit.edu 37 1 160850996 160850996 + Missense_Mutation SNP G G T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:160850996G>T uc001fxc.2 - 5 628 c.512C>A c.(511-513)ACG>AAG p.T171K NM_017625 NP_060095 Q8WWA0 ITLN1_HUMAN intelectin precursor 171 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding p.T171T(1)|p.T171K(1) ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GCCAGTGTCCGTGCGGTACCT 0.562 NA 30 92 1.31e-18 1.49e-18 1 0 NUF2 83540 broad.mit.edu 37 1 163325191 163325191 + Missense_Mutation SNP G G T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:163325191G>T uc001gcq.1 + 14 1627 c.1327G>T c.(1327-1329)GAC>TAC p.D443Y NUF2_uc001gcr.1_Missense_Mutation_p.D443Y|NUF2_uc009wvc.1_Missense_Mutation_p.D396Y NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 443 Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.|Potential. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding ovary(3)|skin(1) 4 all_hematologic(923;0.101) GGCAGCAGAGGACTCCTATGC 0.338 NA 9 25 0.000442599 0.000473678 1 0 ZC3H11A 9877 broad.mit.edu 37 1 203821425 203821425 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:203821425A>G uc001hac.2 + 20 2947 c.2331A>G c.(2329-2331)ATA>ATG p.I777M ZC3H11A_uc001had.2_Missense_Mutation_p.I777M|ZC3H11A_uc001hae.2_Missense_Mutation_p.I777M|ZC3H11A_uc001haf.2_Missense_Mutation_p.I777M|ZC3H11A_uc010pqm.1_Missense_Mutation_p.I723M NM_014827 NP_055642 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 777 nucleic acid binding|protein binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) AGAAACTAATATGGGAGATTT 0.468 NA 17 42 0 0 0 0 MARK1 4139 broad.mit.edu 37 1 220804398 220804398 + Missense_Mutation SNP A A T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:220804398A>T uc001hmn.3 + 10 1528 c.931A>T c.(931-933)ATG>TTG p.M311L MARK1_uc009xdw.2_Missense_Mutation_p.M311L|MARK1_uc010pun.1_Missense_Mutation_p.M311L|MARK1_uc001hmm.3_Missense_Mutation_p.M289L NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 311 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) AGATCGATGGATGAATGTTGG 0.338 NA 7 22 0 0 0 0 TARBP1 6894 broad.mit.edu 37 1 234596074 234596074 + Missense_Mutation SNP G G T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:234596074G>T uc001hwd.2 - 7 1468 c.1468C>A c.(1468-1470)CTA>ATA p.L490I NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 490 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) GCCTTAGATAGAAACAAAATG 0.373 NA 12 36 6.32e-08 6.98e-08 1 0 OR11L1 391189 broad.mit.edu 37 1 248004351 248004352 + Missense_Mutation DNP GG GG TT TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:248004351_248004352GG>TT uc001idn.1 - 1 847_848 c.847_848CC>AA c.(847-849)CCA>AAA p.P283K NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 283 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GTTCAGCAGTGGTGTGACCACA 0.441 NA 17 59 0 0 0 0 OR2M5 127059 broad.mit.edu 37 1 248309150 248309150 + Missense_Mutation SNP G G A rs147580819 TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr1:248309150G>A uc010pze.1 + 1 701 c.701G>A c.(700-702)CGT>CAT p.R234H NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GGAGAGGGTCGTCGCAAAGCT 0.463 NA 73 182 0 0 0 0 SFMBT2 57713 broad.mit.edu 37 10 7214579 7214579 + Missense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr10:7214579C>T uc009xio.1 - 18 2120 c.2029G>A c.(2029-2031)GGG>AGG p.G677R SFMBT2_uc001ijn.1_Missense_Mutation_p.G677R|SFMBT2_uc010qay.1_Missense_Mutation_p.G512R NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 677 regulation of transcription, DNA-dependent nucleus p.G677R(1) ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 TTGCTTTCCCCGATGGGGGGC 0.517 NA 23 52 0 0 0 0 IPMK 253430 broad.mit.edu 37 10 59976032 59976032 + Silent SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr10:59976032G>A uc001jkb.2 - 4 743 c.420C>T c.(418-420)CCC>CCT p.P140P NM_152230 NP_689416 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase 140 Substrate binding (By similarity). nucleus ATP binding|inositol trisphosphate 6-kinase activity ovary(1) 1 CCATTATACAGGGCTTATTAA 0.328 NA 9 38 0 0 0 0 SGPL1 8879 broad.mit.edu 37 10 72631612 72631612 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr10:72631612A>G uc001jrm.2 + 11 1150 c.928A>G c.(928-930)ATA>GTA p.I310V SGPL1_uc009xqk.2_RNA NM_003901 NP_003892 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 310 Cytoplasmic (Potential). apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity 0 Pyridoxal Phosphate(DB00114) CAAATACAAAATACCCCTTCA 0.433 NA 19 68 0 0 0 0 DLG5 9231 broad.mit.edu 37 10 79576322 79576322 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr10:79576322G>A uc001jzk.2 - 20 4082 c.4012C>T c.(4012-4014)CGG>TGG p.R1338W DLG5_uc001jzi.2_Missense_Mutation_p.R93W|DLG5_uc001jzj.2_Missense_Mutation_p.R753W|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.R942W NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1338 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TCCTTTCTCCGCTCCCCGAGG 0.637 NA 10 64 0 0 0 0 BTAF1 9044 broad.mit.edu 37 10 93740247 93740247 + Missense_Mutation SNP A A T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr10:93740247A>T uc001khr.2 + 15 1785 c.1687A>T c.(1687-1689)ATG>TTG p.M563L BTAF1_uc001khs.1_Missense_Mutation_p.M233L|BTAF1_uc001kht.1_Missense_Mutation_p.M1L NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 563 HEAT 4. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) ACTGCCTGATATGCTCCGACA 0.373 NA 11 45 0 0 0 0 PDE6C 5146 broad.mit.edu 37 10 95399902 95399902 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr10:95399902G>A uc001kiu.3 + 12 1696 c.1558G>A c.(1558-1560)GGA>AGA p.G520R NM_006204 NP_006195 P51160 PDE6C_HUMAN phosphodiesterase 6C 520 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding ovary(2)|kidney(1)|skin(1) 4 Colorectal(252;0.123) TACAGAGCACGGATTGATTAA 0.403 NA 30 71 0 0 0 0 IKZF5 64376 broad.mit.edu 37 10 124758050 124758050 + Missense_Mutation SNP C C G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr10:124758050C>G uc001lha.2 - 3 391 c.92G>C c.(91-93)GGA>GCA p.G31A NM_022466 NP_071911 Q9H5V7 IKZF5_HUMAN zinc finger protein, subfamily 1A, 5 31 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222) Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754) ACTAACTGATCCAGAAATCAT 0.403 NA 19 61 0 0 0 0 RIC8A 60626 broad.mit.edu 37 11 209939 209939 + Missense_Mutation SNP T T C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr11:209939T>C uc001log.2 + 3 990 c.665T>C c.(664-666)ATG>ACG p.M222T BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001lof.2_Missense_Mutation_p.M222T|RIC8A_uc001loh.2_Missense_Mutation_p.M215T NM_021932 NP_068751 Q9NPQ8 RIC8A_HUMAN resistance to inhibitors of cholinesterase 8 222 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity 0 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) GAGCGGGCCATGGAGATCCTC 0.587 NA 7 33 0 0 0 0 OR52A1 23538 broad.mit.edu 37 11 5173296 5173296 + Nonsense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr11:5173296G>A uc010qyy.1 - 1 304 c.304C>T c.(304-306)CAA>TAA p.Q102* NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, 102 Helical; Name=3; (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AACCACATTTGAAGCAAGCAG 0.458 NA 8 23 0 0 0 0 NLRP14 338323 broad.mit.edu 37 11 7064378 7064378 + Missense_Mutation SNP C C A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr11:7064378C>A uc001mfb.1 + 4 1444 c.1121C>A c.(1120-1122)GCC>GAC p.A374D NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 374 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GTGTGCTGGGCCGCTTGTACT 0.453 NA 38 109 3.21e-22 3.68e-22 1 0 SBF2 81846 broad.mit.edu 37 11 10215531 10215531 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr11:10215531G>A uc001mib.2 - 2 197 c.59C>T c.(58-60)TCA>TTA p.S20L SBF2_uc001mif.3_5'UTR NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 20 UDENN. myelination cytoplasm|membrane phosphatase activity|protein binding p.S20L(1) upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) ACCTTCTCCTGATCCTGTTAA 0.333 NA 3 15 0 0 0 0 NAV2 89797 broad.mit.edu 37 11 20136232 20136233 + Missense_Mutation DNP CC CC TT TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr11:20136232_20136233CC>TT uc001mpr.3 + 37 7425_7426 c.7064_7065CC>TT c.(7063-7065)CCC>CTT p.P2355L NAV2_uc001mpp.2_Missense_Mutation_p.P2288L|NAV2_uc009yhx.2_Missense_Mutation_p.P1416L|NAV2_uc009yhz.2_Missense_Mutation_p.P997L|NAV2_uc001mpu.2_Missense_Mutation_p.P790L|NAV2_uc001mpv.2_Missense_Mutation_p.P114L NM_182964 NP_892009 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 1 2411 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 GAGTGGCCTCCCCTGCTGCAGT 0.614 NA 13 24 0 0 0 0 C11orf74 119710 broad.mit.edu 37 11 36654876 36654876 + Missense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr11:36654876C>T uc001mwy.1 + 3 252 c.179C>T c.(178-180)TCA>TTA p.S60L C11orf74_uc010rfd.1_RNA|C11orf74_uc001mww.1_Intron|C11orf74_uc001mwx.1_Intron|C11orf74_uc001mwz.1_Intron|C11orf74_uc010rfe.1_RNA NM_138787 NP_620142 Q86VG3 CK074_HUMAN hypothetical protein LOC119710 60 0 all_lung(20;0.226) all_hematologic(20;0.0118) ACTGATTCTTCAGAAAACATT 0.338 NA 8 34 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62285788 62285788 + Silent SNP T T C rs146188257 TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr11:62285788T>C uc001ntl.2 - 5 16401 c.16101A>G c.(16099-16101)GGA>GGG p.G5367G AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 5367 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GCAGGCTTGGTCCCCTCAGTG 0.547 NA 21 70 0 0 0 0 CTTN 2017 broad.mit.edu 37 11 70263146 70263146 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr11:70263146A>G uc001opv.3 + 8 691 c.485A>G c.(484-486)TAT>TGT p.Y162C CTTN_uc001opu.2_Missense_Mutation_p.Y162C|CTTN_uc001opw.3_Missense_Mutation_p.Y162C NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a 162 Cortactin 3. cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) GGCGGCAAGTATGGCGTGCAG 0.582 NA 26 93 0 0 0 0 CLPB 81570 broad.mit.edu 37 11 72013356 72013356 + Nonsense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr11:72013356G>A uc001osj.2 - 11 1299 c.1249C>T c.(1249-1251)CGA>TGA p.R417* CLPB_uc010rqx.1_Nonsense_Mutation_p.R372*|CLPB_uc010rqy.1_Nonsense_Mutation_p.R358*|CLPB_uc001osk.2_Nonsense_Mutation_p.R387*|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Nonsense_Mutation_p.R216*|CLPB_uc001osi.2_Nonsense_Mutation_p.R25* NM_030813 NP_110440 Q9H078 CLPB_HUMAN caseinolytic peptidase B 417 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding pancreas(1) 1 ACCTCGTGTCGCTCCTGGAAC 0.522 NA 9 56 0 0 0 0 C2CD3 26005 broad.mit.edu 37 11 73803532 73803532 + Missense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr11:73803532C>T uc001ouu.2 - 19 3673 c.3446G>A c.(3445-3447)GGA>GAA p.G1149E NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1149 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) GGTCTGTATTCCCACATCCTC 0.423 NA 9 49 0 0 0 0 PRKRIR 5612 broad.mit.edu 37 11 76063019 76063019 + Missense_Mutation SNP T T A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr11:76063019T>A uc001oxh.1 - 5 1175 c.1175A>T c.(1174-1176)CAT>CTT p.H392L PRKRIR_uc010rrz.1_Missense_Mutation_p.H217L NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 392 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity ovary(2)|pancreas(1) 3 TGGTGATCGATGGAAAAAAGA 0.378 NA 10 36 0 0 0 0 DLG2 1740 broad.mit.edu 37 11 83874509 83874509 + Missense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr11:83874509C>T uc001paj.2 - 4 607 c.304G>A c.(304-306)GAG>AAG p.E102K DLG2_uc001pai.2_Missense_Mutation_p.E51K|DLG2_uc010rsy.1_Missense_Mutation_p.E69K|DLG2_uc010rsz.1_Missense_Mutation_p.E102K|DLG2_uc010rta.1_Missense_Mutation_p.E102K|DLG2_uc001pak.2_Missense_Mutation_p.E207K|DLG2_uc010rtb.1_Missense_Mutation_p.E69K|DLG2_uc001pal.1_Missense_Mutation_p.E102K|DLG2_uc001pam.1_Missense_Mutation_p.E141K NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 102 PDZ 1. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CTTACCCTCTCCAGTGTAATT 0.308 NA 7 26 0 0 0 0 CHORDC1 26973 broad.mit.edu 37 11 89944413 89944413 + Missense_Mutation SNP G G C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr11:89944413G>C uc001pdg.2 - 5 813 c.403C>G c.(403-405)CTG>GTG p.L135V CHORDC1_uc009yvz.2_Missense_Mutation_p.L116V NM_012124 NP_036256 Q9UHD1 CHRD1_HUMAN cysteine and histidine-rich domain-containing 135 Interaction with HSP90AA1 and HSP90AB1 (By similarity). chaperone-mediated protein folding|regulation of response to stress|response to stress Hsp90 protein binding|identical protein binding 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915) CCTGATGACAGTTTAAGTTTA 0.303 NA 18 65 0 0 0 0 MLL 4297 broad.mit.edu 37 11 118375349 118375349 + Silent SNP C C A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr11:118375349C>A uc001pta.2 + 27 8756 c.8733C>A c.(8731-8733)GTC>GTA p.V2911V MLL_uc001ptb.2_Silent_p.V2914V NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2911 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) ATAGTAGTGTCTCTTCCTCTA 0.478 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 39 117 2.55e-27 2.93e-27 1 0 TECTA 7007 broad.mit.edu 37 11 120998603 120998603 + Silent SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr11:120998603C>T uc010rzo.1 + 8 1917 c.1917C>T c.(1915-1917)CTC>CTT p.L639L NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 639 TIL 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCTTCGTCCTCAGCACCAGCC 0.657 NA 22 69 0 0 0 0 SORL1 6653 broad.mit.edu 37 11 121348887 121348887 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr11:121348887G>A uc001pxx.2 + 3 543 c.463G>A c.(463-465)GGC>AGC p.G155S NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 155 Extracellular (Potential). cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GTTAAACTTTGGCTTGGGAAA 0.453 NA 13 41 0 0 0 0 SFRS2IP 9169 broad.mit.edu 37 12 46320591 46320591 + Missense_Mutation SNP G G A rs112858085 TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr12:46320591G>A uc001rox.2 - 11 3180 c.2893C>T c.(2893-2895)CGG>TGG p.R965W SFRS2IP_uc001row.2_Missense_Mutation_p.R650W|SFRS2IP_uc001roy.1_Missense_Mutation_p.R1039W NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 965 Arg-rich. spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) CCCTTCCACCGGGGAGAGTAA 0.428 NA 41 138 0 0 0 0 ACVR1B 91 broad.mit.edu 37 12 52380658 52380658 + Missense_Mutation SNP T T G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr12:52380658T>G uc001rzn.2 + 7 1235 c.1193T>G c.(1192-1194)TTT>TGT p.F398C ACVR1B_uc001rzl.2_Missense_Mutation_p.F398C|ACVR1B_uc001rzm.2_Missense_Mutation_p.F398C|ACVR1B_uc010snn.1_Missense_Mutation_p.F439C NM_004302 NP_004293 P36896 ACV1B_HUMAN activin A receptor, type IB isoform a precursor 398 Protein kinase.|Cytoplasmic (Potential). G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1) 9 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) TTTGACTCCTTTAAATGTGCT 0.408 NA 33 84 0 0 0 0 AMHR2 269 broad.mit.edu 37 12 53823690 53823690 + Nonsense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr12:53823690C>T uc001scx.1 + 9 1294 c.1216C>T c.(1216-1218)CGA>TGA p.R406* AMHR2_uc009zmy.1_Nonsense_Mutation_p.R406* NM_020547 NP_065434 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II isoform 406 Cytoplasmic (Potential).|Protein kinase. R -> Q (in PMDS2). Mullerian duct regression ATP binding|hormone binding|metal ion binding ovary(1)|skin(1) 2 Adenosine triphosphate(DB00171) CATGGCCCTCCGACGAGCTGA 0.582 NA Persistant_Mullerian_Duct_Syndrome_(type_I_and_II) 16 47 0 0 0 0 IRAK3 11213 broad.mit.edu 37 12 66639014 66639014 + Missense_Mutation SNP G G A rs140671957 TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr12:66639014G>A uc001sth.2 + 11 1388 c.1286G>A c.(1285-1287)CGG>CAG p.R429Q IRAK3_uc010ssy.1_Missense_Mutation_p.R368Q NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 429 Protein kinase. R -> Q (may be associated with ASRT5). interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(2)|central_nervous_system(1) 8 GBM - Glioblastoma multiforme(28;0.0203) GCTGCAACGCGGGCAAAGTTA 0.438 NA 31 87 0 0 0 0 C12orf74 338809 broad.mit.edu 37 12 93100819 93100819 + Nonsense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr12:93100819C>T uc001tch.1 + 2 642 c.412C>T c.(412-414)CAG>TAG p.Q138* C12orf74_uc001tci.2_Nonsense_Mutation_p.Q138* NM_001037671 NP_001032760 Q32Q52 CL074_HUMAN hypothetical protein LOC338809 138 0 TCCTGAGCTTCAGCCTGTCAA 0.582 NA 12 50 0 0 0 0 KNTC1 9735 broad.mit.edu 37 12 123078827 123078827 + Missense_Mutation SNP C C G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr12:123078827C>G uc001ucv.2 + 43 4413 c.4250C>G c.(4249-4251)TCT>TGT p.S1417C KNTC1_uc010taf.1_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1417 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TTCTAGATTTCTTTTCAACCA 0.343 NA 21 54 0 0 0 0 VPS37B 79720 broad.mit.edu 37 12 123355461 123355461 + Missense_Mutation SNP A A C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr12:123355461A>C uc001udl.2 - 2 362 c.259T>G c.(259-261)TAT>GAT p.Y87D NM_024667 NP_078943 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37B 87 VPS37 C-terminal.|Interaction with IST1. cellular membrane organization|endosome transport|protein transport late endosome membrane 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) TTTATCTGATAGGCTTCAAAG 0.448 NA 24 79 0 0 0 0 RIMBP2 23504 broad.mit.edu 37 12 130921797 130921797 + Missense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr12:130921797C>T uc001uil.2 - 10 1809 c.1645G>A c.(1645-1647)GTG>ATG p.V549M RIMBP2_uc001uim.2_Missense_Mutation_p.V457M|RIMBP2_uc001uin.1_Missense_Mutation_p.V208M NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 549 Fibronectin type-III 3. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) ACAAGCTCCACGGCCGTGCTG 0.692 NA 5 4 0 0 0 0 RIMBP2 23504 broad.mit.edu 37 12 130934748 130934748 + Missense_Mutation SNP T T C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr12:130934748T>C uc001uil.2 - 6 691 c.527A>G c.(526-528)TAT>TGT p.Y176C RIMBP2_uc001uim.2_Missense_Mutation_p.Y84C NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 176 SH3 1. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CACTTACCTATAGCGGGCAAC 0.562 NA 4 7 0 0 0 0 DGKH 160851 broad.mit.edu 37 13 42783488 42783488 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr13:42783488A>G uc001uyl.1 + 23 2758 c.2737A>G c.(2737-2739)ATA>GTA p.I913V DGKH_uc010tfh.1_Missense_Mutation_p.I913V|DGKH_uc001uym.1_Missense_Mutation_p.I913V|DGKH_uc010tfi.1_Missense_Mutation_p.I668V|DGKH_uc010tfj.1_Missense_Mutation_p.I768V|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.I768V|DGKH_uc001uyp.2_RNA NM_178009 NP_821077 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta isoform 2 913 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(2) 2 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) GAAAATCACTATATTTGGTGA 0.393 NA 10 38 0 0 0 0 SLITRK6 84189 broad.mit.edu 37 13 86370532 86370532 + Missense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr13:86370532C>T uc001vll.1 - 2 571 c.112G>A c.(112-114)GAG>AAG p.E38K SLITRK6_uc010afe.1_5'Flank NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 38 LRRNT 1.|Extracellular (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TCTTTTTCCTCACAATTGCAA 0.398 NA 4 51 0 0 0 0 MYO16 23026 broad.mit.edu 37 13 109699324 109699324 + Missense_Mutation SNP C C G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr13:109699324C>G uc001vqt.1 + 24 2917 c.2791C>G c.(2791-2793)CTA>GTA p.L931V MYO16_uc010agk.1_Missense_Mutation_p.L953V|MYO16_uc001vqu.1_Missense_Mutation_p.L731V|MYO16_uc010tjh.1_Missense_Mutation_p.L443V NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 931 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) ACAGAATCTTCTATTTGTAAT 0.313 NA 14 46 0 0 0 0 PTPN21 11099 broad.mit.edu 37 14 88945670 88945670 + Missense_Mutation SNP G G C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr14:88945670G>C uc001xwv.3 - 13 2436 c.2105C>G c.(2104-2106)TCG>TGG p.S702W PTPN21_uc010twc.1_Missense_Mutation_p.S498W NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 702 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 GGTGGCGTCCGACAGGGACTT 0.672 NA 15 49 0 0 0 0 GPR68 8111 broad.mit.edu 37 14 91700861 91700861 + Missense_Mutation SNP G G C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr14:91700861G>C uc001xzg.2 - 2 875 c.534C>G c.(532-534)ATC>ATG p.I178M GPR68_uc001xzh.2_Missense_Mutation_p.I188M NM_003485 NP_003476 Q15743 OGR1_HUMAN G protein-coupled receptor 68 178 Extracellular (Potential). inflammatory response integral to plasma membrane G-protein coupled receptor activity kidney(1) 1 all_cancers(154;0.0555) COAD - Colon adenocarcinoma(157;0.21) GCCATGCCTGGATGGGGTAGT 0.622 NA 3 18 0 0 0 0 CASC5 57082 broad.mit.edu 37 15 40951562 40951562 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr15:40951562G>A uc010bbs.1 + 26 6978 c.6817G>A c.(6817-6819)GCA>ACA p.A2273T CASC5_uc010bbt.1_Missense_Mutation_p.A2247T NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 2273 Necessary for kinetochore localization and for interaction with NSL1 and DSN1. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) CTCTAGCTCCGCAGCATTTGC 0.328 NA 20 39 0 0 0 0 USP8 9101 broad.mit.edu 37 15 50769638 50769638 + Missense_Mutation SNP C C G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr15:50769638C>G uc001zym.3 + 11 1660 c.1160C>G c.(1159-1161)TCT>TGT p.S387C USP8_uc001zyk.1_Missense_Mutation_p.S88C|USP8_uc001zyl.3_Missense_Mutation_p.S387C|USP8_uc001zyn.3_Missense_Mutation_p.S387C|USP8_uc010ufh.1_Missense_Mutation_p.S310C|USP8_uc010bev.1_Missense_Mutation_p.S16C NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 387 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) GTTGCTGCTTCTAAATCTGAT 0.343 NA 23 43 0 0 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79058842 79058842 + Silent SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr15:79058842G>A uc002bej.3 - 19 3622 c.3411C>T c.(3409-3411)GCC>GCT p.A1137A ADAMTS7_uc010und.1_3'UTR NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 1137 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 GGGAGCGGCCGGCCTGGCTAG 0.677 NA 3 15 0 0 0 0 SV2B 9899 broad.mit.edu 37 15 91835756 91835756 + Missense_Mutation SNP G G C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr15:91835756G>C uc002bqv.2 + 12 2417 c.2026G>C c.(2026-2028)GAG>CAG p.E676Q SV2B_uc010uqv.1_Missense_Mutation_p.E525Q|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 676 Cytoplasmic (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.E676Q(1) ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TCGACTGCCAGAGACTCGAGA 0.507 NA 31 82 0 0 0 0 LYSMD4 145748 broad.mit.edu 37 15 100269526 100269526 + Silent SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr15:100269526G>A uc002bvk.2 - 3 756 c.693C>T c.(691-693)GTC>GTT p.V231V LYSMD4_uc002bvj.1_Intron|LYSMD4_uc010bou.1_Intron|LYSMD4_uc002bvl.2_Silent_p.V232V|LYSMD4_uc002bvm.2_3'UTR|LYSMD4_uc010bov.2_Silent_p.V231V Q5XG99 LYSM4_HUMAN SubName: Full=cDNA FLJ77040, highly similar to Homo sapiens LysM, putative peptidoglycan-binding, domain containing 4, mRNA; SubName: Full=LysM, putative peptidoglycan-binding, domain containing 4, isoform CRA_c; 231 Helical; (Potential). cell wall macromolecule catabolic process integral to membrane 0 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208) AGACAGGCAAGACAATACCAA 0.478 NA 44 142 0 0 0 0 TMCO7 79613 broad.mit.edu 37 16 68893913 68893913 + Missense_Mutation SNP G G C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr16:68893913G>C uc002ewi.3 + 2 233 c.221G>C c.(220-222)AGA>ACA p.R74T TMCO7_uc002ewh.2_Missense_Mutation_p.R74T NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 74 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) AAACTCCTAAGAGATGAAATT 0.403 NA 6 51 0 0 0 0 ZFP1 162239 broad.mit.edu 37 16 75204123 75204123 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr16:75204123G>A uc002fdo.2 + 4 1279 c.1115G>A c.(1114-1116)CGA>CAA p.R372Q ZFP1_uc002fdp.2_Missense_Mutation_p.R317Q|ZFP1_uc010cgt.2_Missense_Mutation_p.R339Q|ZFP1_uc010cgs.2_Missense_Mutation_p.R317Q|ZFP1_uc002fdq.2_Missense_Mutation_p.R372Q NM_153688 NP_710155 Q6P2D0 ZFP1_HUMAN zinc finger protein 1 homolog 372 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R372Q(1) upper_aerodigestive_tract(1)|ovary(1) 2 TTACACTTGCGAATCCACACA 0.473 NA 7 55 0 0 0 0 CHST6 4166 broad.mit.edu 37 16 75513142 75513142 + Silent SNP T T C rs138994371 TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr16:75513142T>C uc002fef.2 - 3 765 c.585A>G c.(583-585)CTA>CTG p.L195L CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.L195L NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 195 Lumenal (Potential). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 GCACGATGCGTAGGTTGAGCG 0.687 NA 11 44 0 0 0 0 MBTPS1 8720 broad.mit.edu 37 16 84104310 84104310 + Silent SNP T T C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr16:84104310T>C uc002fhi.2 - 13 2167 c.1665A>G c.(1663-1665)TTA>TTG p.L555L MBTPS1_uc002fhh.2_Silent_p.L59L NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 555 Lumenal (Potential). cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 ACCAAGGCCATAAGACCGAGG 0.522 NA 16 73 0 0 0 0 ZFP3 124961 broad.mit.edu 37 17 4994843 4994843 + Missense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr17:4994843C>T uc002gaq.2 + 2 169 c.44C>T c.(43-45)TCT>TTT p.S15F NM_153018 NP_694563 Q96NJ6 ZFP3_HUMAN zinc finger protein-3 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAAGAAATTTCTGAAGAATCT 0.403 NA 16 15 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577114 7577114 + Missense_Mutation SNP C C A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr17:7577114C>A uc002gim.2 - 8 1018 c.824G>T c.(823-825)TGT>TTT p.C275F TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.C275F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C143F|TP53_uc010cng.1_Missense_Mutation_p.C143F|TP53_uc002gii.1_Missense_Mutation_p.C143F|TP53_uc010cnh.1_Missense_Mutation_p.C275F|TP53_uc010cni.1_Missense_Mutation_p.C275F|TP53_uc002gij.2_Missense_Mutation_p.C275F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 275 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). C -> S (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (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.C275Y(44)|p.C275F(34)|p.C275G(7)|p.C275W(7)|p.0?(7)|p.C275R(6)|p.C275C(4)|p.C275fs*70(2)|p.C275fs*31(2)|p.?(2)|p.C275S(2)|p.R273_C275delRVC(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.C275*(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.A276fs*29(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) AGGACAGGCACAAACACGCAC 0.552 111 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) 16 18 1.52e-12 1.72e-12 1 0 ZNF286A 57335 broad.mit.edu 37 17 15619477 15619477 + Missense_Mutation SNP G G T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr17:15619477G>T uc010cot.2 + 6 835 c.439G>T c.(439-441)GTC>TTC p.V147F ZNF286A_uc002goz.3_Missense_Mutation_p.V35F|ZNF286A_uc010vwa.1_Missense_Mutation_p.V147F|ZNF286A_uc002gpa.2_Missense_Mutation_p.V147F NM_001130842 NP_001124314 Q9HBT8 Z286A_HUMAN zinc finger protein 286 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) ACGGAATAGTGTCTATGACTC 0.403 NA 19 20 3.62e-10 4.07e-10 1 0 WIPF2 147179 broad.mit.edu 37 17 38433351 38433351 + Missense_Mutation SNP G G C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr17:38433351G>C uc002hug.1 + 7 1437 c.1197G>C c.(1195-1197)AAG>AAC p.K399N WIPF2_uc002huh.1_Missense_Mutation_p.K249N|WIPF2_uc010cww.1_Missense_Mutation_p.K249N|WIPF2_uc002hui.1_Missense_Mutation_p.K399N|WIPF2_uc010cwx.1_Missense_Mutation_p.K141N|WIPF2_uc010cwy.1_Missense_Mutation_p.K399N NM_133264 NP_573571 Q8TF74 WIPF2_HUMAN WIRE protein 399 cytoplasm|cytoskeleton actin binding p.K399N(1) upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 TTGAGTCAAAGTATTCCTTCC 0.413 NA HNSCC(43;0.11) 20 78 0 0 0 0 GFAP 2670 broad.mit.edu 37 17 42992693 42992693 + Silent SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr17:42992693C>T uc002ihq.2 - 1 222 c.162G>A c.(160-162)CTG>CTA p.L54L GFAP_uc002ihr.2_Silent_p.L54L|GFAP_uc010wjg.1_RNA NM_002055 NP_002046 P14136 GFAP_HUMAN glial fibrillary acidic protein isoform 1 54 Head. cytoplasm|intermediate filament structural constituent of cytoskeleton ovary(1)|pancreas(1) 2 Prostate(33;0.0959) GTGCCCCAGCCAGGGAGAAAT 0.657 NA 18 40 0 0 0 0 TTLL6 284076 broad.mit.edu 37 17 46862375 46862375 + Silent SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr17:46862375G>A uc010wlo.1 - 14 1985 c.1950C>T c.(1948-1950)CTC>CTT p.L650L TTLL6_uc002iob.2_Silent_p.L343L|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Silent_p.L403L|TTLL6_uc002iod.2_Silent_p.L497L NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 602 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity 0 TCGAGCTGCTGAGATTGATAT 0.483 NA 72 121 0 0 0 0 BAHCC1 57597 broad.mit.edu 37 17 79410170 79410170 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr17:79410170G>A uc002kaf.2 + 3 1795 c.1795G>A c.(1795-1797)GAG>AAG p.E599K BAHCC1_uc002kae.2_5'Flank NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN BAH domain and coiled-coil containing 1 599 DNA binding ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) CATCAGCGAGGAGCGCAAGGC 0.706 NA 11 30 0 0 0 0 EPB41L3 23136 broad.mit.edu 37 18 5397422 5397422 + Missense_Mutation SNP T T C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr18:5397422T>C uc002kmt.1 - 18 2562 c.2476A>G c.(2476-2478)ATG>GTG p.M826V EPB41L3_uc010wzh.1_Missense_Mutation_p.M657V|EPB41L3_uc002kmu.1_Missense_Mutation_p.M604V|EPB41L3_uc010dkq.1_Missense_Mutation_p.M495V|EPB41L3_uc002kms.1_Missense_Mutation_p.M61V|EPB41L3_uc010wze.1_Missense_Mutation_p.M131V|EPB41L3_uc010wzf.1_Missense_Mutation_p.M123V|EPB41L3_uc010wzg.1_Missense_Mutation_p.M98V|EPB41L3_uc010dkr.2_Missense_Mutation_p.M218V NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 826 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 TTGGTTTCCATTTTCTGCATG 0.517 NA 32 82 0 0 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14780007 14780007 + Missense_Mutation SNP C C G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr18:14780007C>G uc010dlo.2 + 11 1649 c.1469C>G c.(1468-1470)TCT>TGT p.S490C ANKRD30B_uc010xak.1_RNA NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 490 ovary(1)|skin(1) 2 GAAGAATATTCTTGGGATTCT 0.313 NA 5 11 0 0 0 0 DSG3 1830 broad.mit.edu 37 18 29055986 29055986 + Silent SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr18:29055986C>T uc002kws.2 + 16 2872 c.2763C>T c.(2761-2763)TCC>TCT p.S921S DSG3_uc002kwt.2_Silent_p.S203S NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 921 Desmoglein repeat 1.|Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CAGCTGTTTCCATCCCTGACC 0.507 NA 22 70 0 0 0 0 NETO1 81832 broad.mit.edu 37 18 70461478 70461478 + Silent SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr18:70461478C>T uc002lkw.2 - 6 797 c.513G>A c.(511-513)GCG>GCA p.A171A NETO1_uc002lkx.1_Silent_p.A170A|NETO1_uc002lky.1_Silent_p.A171A NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 171 Extracellular (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CAAACTCACACGCTAAATAAC 0.388 NA 19 61 0 0 0 0 SFRS14 10147 broad.mit.edu 37 19 19112448 19112448 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr19:19112448G>A uc002nkx.2 - 8 3111 c.2965C>T c.(2965-2967)CGG>TGG p.R989W SFRS14_uc002nkz.1_Missense_Mutation_p.R1003W|SFRS14_uc002nla.1_Missense_Mutation_p.R989W|SFRS14_uc002nlb.2_Missense_Mutation_p.R989W|SFRS14_uc010xqk.1_Missense_Mutation_p.R758W NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN splicing factor, arginine/serine-rich 14 989 mRNA processing|RNA splicing nucleus RNA binding p.R989W(1) 0 OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161) GGACGACCCCGAGGCCTGTCA 0.423 NA 11 62 0 0 0 0 ZNF345 25850 broad.mit.edu 37 19 37368294 37368294 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr19:37368294G>A uc002oex.2 + 3 940 c.562G>A c.(562-564)GCC>ACC p.A188T ZNF345_uc002oey.3_Missense_Mutation_p.A188T|ZNF345_uc002oez.2_Intron NM_003419 NP_003410 Q14585 ZN345_HUMAN zinc finger protein 345 188 C2H2-type 5. negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTTGAATCAGCCCTTATTCG 0.413 NA 22 41 0 0 0 0 HNRNPL 3191 broad.mit.edu 37 19 39336360 39336360 + Missense_Mutation SNP T T C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr19:39336360T>C uc010xul.1 - 4 651 c.640A>G c.(640-642)ATC>GTC p.I214V HNRNPL_uc010xum.1_Missense_Mutation_p.I81V|HNRNPL_uc010xun.1_5'Flank NM_001533 NP_001524 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 214 RRM 2. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) GGATTACAGATAGTGTAAAGA 0.478 NA 13 44 0 0 0 0 ZNF222 7673 broad.mit.edu 37 19 44536636 44536636 + Nonsense_Mutation SNP C C A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr19:44536636C>A uc002oyc.2 + 4 992 c.809C>A c.(808-810)TCA>TAA p.S270* ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Nonsense_Mutation_p.S310*|ZNF222_uc002oyd.2_Nonsense_Mutation_p.S216* NM_013360 NP_037492 Q9UK12 ZN222_HUMAN zinc finger protein 222 isoform 2 270 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Prostate(69;0.0435) TGTCTTAGGTCAAGTCTTAAT 0.393 NA 34 97 9.04e-19 1.03e-18 1 0 HIF3A 64344 broad.mit.edu 37 19 46828852 46828852 + Missense_Mutation SNP G G A rs139513428 TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr19:46828852G>A uc002peh.2 + 11 1425 c.1396G>A c.(1396-1398)GGG>AGG p.G466R HIF3A_uc002peg.3_Missense_Mutation_p.G466R|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.G410R|HIF3A_uc002pej.1_Missense_Mutation_p.G397R|HIF3A_uc002pek.2_Missense_Mutation_p.G410R|HIF3A_uc010xxy.1_Missense_Mutation_p.G397R|HIF3A_uc002pel.2_Missense_Mutation_p.G464R|HIF3A_uc010xxz.1_Missense_Mutation_p.G415R NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 466 NTAD.|ODD. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity p.G464R(1) upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CTTCACCTCCGGGAAAGACAC 0.507 NA 45 129 0 0 0 0 EMP3 2014 broad.mit.edu 37 19 48830823 48830823 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr19:48830823G>A uc002piv.2 + 3 378 c.124G>A c.(124-126)GAC>AAC p.D42N NM_001425 NP_001416 P54852 EMP3_HUMAN epithelial membrane protein 3 42 cell growth|negative regulation of cell proliferation integral to membrane 0 all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) TCTCTGGTACGACTGCACGTG 0.562 NA 7 32 0 0 0 0 SLC6A16 28968 broad.mit.edu 37 19 49813315 49813315 + Missense_Mutation SNP T T A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr19:49813315T>A uc002pmz.2 - 4 916 c.682A>T c.(682-684)ATG>TTG p.M228L SLC6A16_uc002pna.2_Missense_Mutation_p.M228L|hsa-mir-4324|MI0015854_5'Flank NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 228 Extracellular (Potential). integral to membrane|intracellular neurotransmitter:sodium symporter activity skin(2)|ovary(1)|kidney(1) 4 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) CTAGAGTTCATCGTTAAGGGA 0.289 NA 28 61 0 0 0 0 ZNF616 90317 broad.mit.edu 37 19 52619980 52619980 + Nonsense_Mutation SNP G G T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr19:52619980G>T uc002pym.2 - 4 720 c.437C>A c.(436-438)TCA>TAA p.S146* ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) AGCCAGACGTGACTCAAAGTT 0.383 NA 35 122 9.04e-19 1.03e-18 1 0 NLRP4 147945 broad.mit.edu 37 19 56388492 56388492 + Missense_Mutation SNP C C T rs147716168 TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr19:56388492C>T uc002qmd.3 + 8 3078 c.2656C>T c.(2656-2658)CGG>TGG p.R886W NLRP4_uc002qmf.2_Missense_Mutation_p.R811W|NLRP4_uc010etf.2_Missense_Mutation_p.R661W NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 886 LRR 6. ATP binding p.R886W(1) ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GCTGTTGTGTCGGGCTCTGAC 0.498 NA 38 108 0 0 0 0 PEG3 5178 broad.mit.edu 37 19 57325894 57325894 + Missense_Mutation SNP T T G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr19:57325894T>G uc002qnu.2 - 7 4267 c.3916A>C c.(3916-3918)AAT>CAT p.N1306H ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.N1277H|PEG3_uc002qnv.2_Missense_Mutation_p.N1306H|PEG3_uc002qnw.2_Missense_Mutation_p.N1182H|PEG3_uc002qnx.2_Missense_Mutation_p.N1180H|PEG3_uc010etr.2_Missense_Mutation_p.N1306H NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1306 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.N1306H(2) ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TAGGGCTCATTCTTATGAACA 0.448 NA 18 52 0 0 0 0 USP34 9736 broad.mit.edu 37 2 61415337 61415337 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr2:61415337A>G uc002sbe.2 - 80 10563 c.10541T>C c.(10540-10542)ATG>ACG p.M3514T USP34_uc002sbd.2_Missense_Mutation_p.M316T NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 3514 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) ATGTTGCTGCATATGACTAAA 0.468 NA 16 68 0 0 0 0 ERCC3 2071 broad.mit.edu 37 2 128044295 128044295 + Silent SNP T T C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr2:128044295T>C uc002toh.1 - 8 1421 c.1326A>G c.(1324-1326)GAA>GAG p.E442E ERCC3_uc002toe.1_Silent_p.E197E|ERCC3_uc002tof.1_Silent_p.E378E|ERCC3_uc002tog.1_Silent_p.E378E|ERCC3_uc010flx.1_Silent_p.E197E NM_000122 NP_000113 P19447 ERCC3_HUMAN excision repair cross-complementing rodent 442 Helicase ATP-binding.|DEVH box. cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding ovary(2)|lung(2)|breast(2)|kidney(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TGGTGTGCACTTCATCCAGGA 0.557 NA Mis|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 23 84 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141081531 141081531 + Nonsense_Mutation SNP C C A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr2:141081531C>A uc002tvj.1 - 81 13417 c.12445G>T c.(12445-12447)GAG>TAG p.E4149* NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4149 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.E4149*(1) lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCTAAGTACTCTACTGAACCA 0.289 NA TSP Lung(27;0.18) 21 55 7.45e-12 8.38e-12 1 0 LRP1B 53353 broad.mit.edu 37 2 141625820 141625821 + Missense_Mutation DNP CC CC GG TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr2:141625820_141625821CC>GG uc002tvj.1 - 26 5153_5154 c.4181_4182GG>CC c.(4180-4182)TGG>TCC p.W1394S LRP1B_uc010fnl.1_Missense_Mutation_p.W576S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1394 Extracellular (Potential).|LDL-receptor class B 11. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCCAGTCTGTCCAGAAAAGAAT 0.267 NA TSP Lung(27;0.18) 9 33 0 0 0 0 ZEB2 9839 broad.mit.edu 37 2 145156648 145156648 + Silent SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr2:145156648A>G uc002tvu.2 - 8 2586 c.2106T>C c.(2104-2106)AAT>AAC p.N702N ZEB2_uc002tvv.2_Silent_p.N696N|ZEB2_uc010zbm.1_Silent_p.N673N|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.N731N NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 702 Homeobox; atypical. cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) GGGACCTGGAATTTGAGTACT 0.463 NA 48 155 0 0 0 0 EPC2 26122 broad.mit.edu 37 2 149526743 149526743 + Silent SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr2:149526743G>A uc010zbt.1 + 8 1191 c.1164G>A c.(1162-1164)CCG>CCA p.P388P NM_015630 NP_056445 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 388 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1)|breast(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0516) TATCAGAACCGGAAGAAGAAA 0.388 NA 7 14 0 0 0 0 PGAP1 80055 broad.mit.edu 37 2 197738421 197738421 + Silent SNP C C G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr2:197738421C>G uc002utw.2 - 15 1602 c.1488G>C c.(1486-1488)CTG>CTC p.L496L PGAP1_uc002utx.2_Silent_p.L322L|PGAP1_uc002uty.1_Silent_p.L496L NM_024989 NP_079265 Q75T13 PGAP1_HUMAN GPI deacylase 496 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity ovary(3)|central_nervous_system(1) 4 GTCCAAAGTTCAGAAGCTCTA 0.294 NA 15 48 0 0 0 0 SF3B1 23451 broad.mit.edu 37 2 198285204 198285204 + Silent SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr2:198285204C>T uc002uue.2 - 4 411 c.363G>A c.(361-363)AAG>AAA p.K121K SF3B1_uc010fsk.1_RNA|SF3B1_uc002uuf.2_Silent_p.K121K|SF3B1_uc002uug.2_Silent_p.K121K NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 121 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) TCCGCCTATGCTTTTTGTATT 0.373 NA 23 49 0 0 0 0 PSMD1 5707 broad.mit.edu 37 2 231944262 231944262 + Silent SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr2:231944262A>G uc002vrn.1 + 11 1304 c.1173A>G c.(1171-1173)GAA>GAG p.E391E PSMD1_uc002vrm.1_Silent_p.E391E|PSMD1_uc010fxu.1_Silent_p.E255E NM_002807 NP_002798 Q99460 PSMD1_HUMAN proteasome 26S non-ATPase subunit 1 391 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding ovary(1)|skin(1) 2 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) ATAATTTGGAATGGTTAGCCA 0.313 NA 6 21 0 0 0 0 INPP5D 3635 broad.mit.edu 37 2 233925301 233925301 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr2:233925301G>A uc010zmo.1 + 1 266 c.113G>A c.(112-114)CGG>CAG p.R38Q INPP5D_uc010zmp.1_Missense_Mutation_p.R38Q NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 38 SH2. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TCCATCTCCCGGGCATACGCG 0.617 NA 15 57 0 0 0 0 ASB1 51665 broad.mit.edu 37 2 239344474 239344474 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr2:239344474A>G uc002vyg.2 + 3 400 c.314A>G c.(313-315)GAT>GGT p.D105G NM_001040445 NP_001035535 Q9Y576 ASB1_HUMAN ankyrin repeat and SOCS box-containing protein 105 ANK 2. intracellular signal transduction|negative regulation of cytokine biosynthetic process 0 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) GCCGAGGTGGATCTGGTGGAC 0.627 NA 12 29 0 0 0 0 VPS16 64601 broad.mit.edu 37 20 2844895 2844895 + Missense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr20:2844895C>T uc002whe.2 + 17 1730 c.1682C>T c.(1681-1683)GCA>GTA p.A561V VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'UTR|VPS16_uc002whf.2_Missense_Mutation_p.A417V|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.A247V|VPS16_uc002whi.2_Missense_Mutation_p.A45V NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 561 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 AGCAAACTGGCACTAAGCAAG 0.602 NA 14 41 0 0 0 0 CABIN1 23523 broad.mit.edu 37 22 24432587 24432587 + Silent SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr22:24432587A>G uc002zzi.1 + 3 181 c.54A>G c.(52-54)GAA>GAG p.E18E CABIN1_uc002zzj.1_Silent_p.E18E|CABIN1_uc002zzl.1_Silent_p.E18E|CABIN1_uc010guk.1_Silent_p.E18E|CABIN1_uc002zzk.1_Silent_p.E18E NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 18 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 ATGATCATGAAGGAAGCTTTA 0.453 NA 76 174 0 0 0 0 DNAJB7 150353 broad.mit.edu 37 22 41257490 41257490 + Missense_Mutation SNP G G C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr22:41257490G>C uc003azj.2 - 1 641 c.509C>G c.(508-510)TCT>TGT p.S170C XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_Intron|XPNPEP3_uc003azf.1_Intron|XPNPEP3_uc010gyh.1_5'Flank NM_145174 NP_660157 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 170 protein folding heat shock protein binding|unfolded protein binding ovary(1) 1 GGAAGAGAAAGAAGTAAGGCC 0.353 NA 14 58 0 0 0 0 KIAA1644 85352 broad.mit.edu 37 22 44681438 44681438 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr22:44681438G>A uc003bet.2 - 4 602 c.469C>T c.(469-471)CGG>TGG p.R157W NM_001099294 NP_001092764 Q3SXP7 K1644_HUMAN hypothetical protein LOC85352 precursor 157 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) TGACCCGGCCGAGGGGCCCGA 0.697 NA 21 67 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46658432 46658432 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr22:46658432G>A uc003bhh.2 - 1 788 c.788C>T c.(787-789)TCC>TTC p.S263F NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 263 Extracellular (Potential).|REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GGCGGGCACGGAGAACACCTG 0.667 NA 9 63 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46658434 46658434 + Silent SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr22:46658434G>A uc003bhh.2 - 1 786 c.786C>T c.(784-786)TTC>TTT p.F262F NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 262 Extracellular (Potential).|REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CGGGCACGGAGAACACCTGCC 0.677 NA 9 60 0 0 0 0 KIF9 64147 broad.mit.edu 37 3 47284589 47284589 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr3:47284589A>G uc010hjp.2 - 17 2265 c.1661T>C c.(1660-1662)ATT>ACT p.I554T KIF9_uc003cqx.2_Missense_Mutation_p.I554T|KIF9_uc003cqy.2_Intron|KIF9_uc011bat.1_Intron|uc003cqw.1_RNA NM_001134878 NP_001128350 Q9HAQ2 KIF9_HUMAN kinesin family member 9 isoform 2 554 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) AAGGGGCTCAATGCTGGAAGT 0.498 NA 16 41 0 0 0 0 P4HTM 54681 broad.mit.edu 37 3 49042401 49042401 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr3:49042401G>A uc003cvg.2 + 6 1344 c.995G>A c.(994-996)GGG>GAG p.G332E P4HTM_uc003cvh.2_Missense_Mutation_p.G332E|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank NM_177939 NP_808808 Q9NXG6 P4HTM_HUMAN hypoxia-inducible factor prolyl 4-hydroxylase 332 Lumenal (Potential).|Fe2OG dioxygenase. endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1)|pancreas(1) 2 Vitamin C(DB00126) GTGGACAGTGGGCCTGTGTAC 0.617 NA 26 48 0 0 0 0 USP19 10869 broad.mit.edu 37 3 49155121 49155121 + Missense_Mutation SNP G G C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr3:49155121G>C uc003cwd.1 - 4 602 c.441C>G c.(439-441)TTC>TTG p.F147L USP19_uc003cwa.2_5'UTR|USP19_uc003cvz.3_Missense_Mutation_p.F147L|USP19_uc011bcg.1_Missense_Mutation_p.F147L|USP19_uc003cwb.2_Missense_Mutation_p.F132L|USP19_uc003cwc.1_5'Flank|USP19_uc011bch.1_Missense_Mutation_p.F147L|USP19_uc011bci.1_Missense_Mutation_p.F132L NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 147 Cytoplasmic (Potential).|CS 1. ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ctgtatctgtgaaagcagcat 0.408 NA 14 38 0 0 0 0 PHLDB2 90102 broad.mit.edu 37 3 111688671 111688671 + Silent SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr3:111688671C>T uc010hqa.2 + 16 3861 c.3450C>T c.(3448-3450)CTC>CTT p.L1150L PHLDB2_uc003dyc.2_Silent_p.L1134L|PHLDB2_uc003dyd.2_Silent_p.L1107L|PHLDB2_uc003dyg.2_Silent_p.L1150L|PHLDB2_uc003dyh.2_Silent_p.L1107L|PHLDB2_uc003dyi.2_Silent_p.L641L|PHLDB2_uc003dyj.2_Silent_p.L205L NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 1150 PH. cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 GAGGATTCCTCATCAAAATGG 0.418 NA 18 78 0 0 0 0 KALRN 8997 broad.mit.edu 37 3 124175521 124175521 + Missense_Mutation SNP G G T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr3:124175521G>T uc003ehg.2 + 23 3921 c.3794G>T c.(3793-3795)CGG>CTG p.R1265L KALRN_uc010hrv.1_Missense_Mutation_p.R1256L|KALRN_uc003ehf.1_Missense_Mutation_p.R1265L|KALRN_uc011bjy.1_Missense_Mutation_p.R1256L|KALRN_uc003ehh.1_Missense_Mutation_p.R611L NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1265 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GTCAAGCTGCGGGACGCCAAC 0.547 NA 4 74 0.00909568 0.00966416 1 0 ZBTB38 253461 broad.mit.edu 37 3 141162473 141162473 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr3:141162473A>G uc003etw.2 + 8 2225 c.1243A>G c.(1243-1245)ATT>GTT p.I415V ZBTB38_uc010hun.2_Missense_Mutation_p.I412V|ZBTB38_uc010huo.2_Missense_Mutation_p.I415V|ZBTB38_uc003ety.2_Missense_Mutation_p.I415V|ZBTB38_uc010hup.2_Missense_Mutation_p.I416V NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 415 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 CTATCCTACCATTGGACAAAA 0.448 NA 27 77 0 0 0 0 GRK7 131890 broad.mit.edu 37 3 141499575 141499575 + Silent SNP G G T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr3:141499575G>T uc011bnd.1 + 2 1056 c.972G>T c.(970-972)CTG>CTT p.L324L NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN G-protein-coupled receptor kinase 7 precursor 324 Protein kinase. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 ATGTGCTTCTGGATGACCTCG 0.587 NA 6 27 0.000157383 0.000170499 1 0 AADAC 13 broad.mit.edu 37 3 151532078 151532078 + Missense_Mutation SNP T T C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr3:151532078T>C uc003eze.2 + 1 218 c.128T>C c.(127-129)ATA>ACA p.I43T NM_001086 NP_001077 P22760 AAAD_HUMAN arylacetamide deacetylase 43 Lumenal (Potential). positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity skin(2) 2 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CTGAAAACTATACAAAATTTG 0.348 NA 3 21 0 0 0 0 SI 6476 broad.mit.edu 37 3 164735778 164735778 + Nonsense_Mutation SNP A A T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr3:164735778A>T uc003fei.2 - 29 3562 c.3500T>A c.(3499-3501)TTA>TAA p.L1167* NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1167 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.L1167*(1) ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GCTGTTGAGTAAGAAAACACC 0.338 NA HNSCC(35;0.089) 26 31 0 0 0 0 CLDN11 5010 broad.mit.edu 37 3 170150427 170150427 + Silent SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr3:170150427C>T uc003fgx.2 + 3 709 c.507C>T c.(505-507)CTC>CTT p.L169L CLDN11_uc011bpt.1_Intron|CLDN11_uc003fgy.2_Silent_p.L85L NM_005602 NP_005593 O75508 CLD11_HUMAN claudin 11 169 Helical; (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity central_nervous_system(1) 1 all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TGCTGTGCCTCGTGGGTGGCT 0.592 NA 31 131 0 0 0 0 FNDC3B 64778 broad.mit.edu 37 3 172070689 172070689 + Missense_Mutation SNP G G C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr3:172070689G>C uc003fhy.2 + 22 2783 c.2611G>C c.(2611-2613)GAG>CAG p.E871Q FNDC3B_uc003fhz.3_Missense_Mutation_p.E871Q NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 871 Fibronectin type-III 7. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) CTGTGTCCTGGAGGAGGAGCC 0.567 NA 26 68 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr3:178936082G>A uc003fjk.2 + 10 1781 c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 PI3K helical. E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333 E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 11 59 0 0 0 0 ZNF595 152687 broad.mit.edu 37 4 86787 86787 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr4:86787A>G uc003fzv.1 + 6 1549 c.1393A>G c.(1393-1395)ACA>GCA p.T465A ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.T233A|ZNF595_uc011but.1_Missense_Mutation_p.T233A NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 465 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) TACACGGTCCACAACACTGAA 0.393 NA 7 23 0 0 0 0 ZAR1 326340 broad.mit.edu 37 4 48496198 48496198 + Silent SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr4:48496198C>T uc003gyd.2 + 4 1212 c.1212C>T c.(1210-1212)TGC>TGT p.C404C NM_175619 NP_783318 Q86SH2 ZAR1_HUMAN zygote arrest 1 404 multicellular organismal development cytoplasm|membrane bile acid:sodium symporter activity 0 AAGATTTGTGCGGTAGATGCA 0.478 NA 14 62 0 0 0 0 ANKRD17 26057 broad.mit.edu 37 4 74007554 74007554 + Missense_Mutation SNP G G C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr4:74007554G>C uc003hgp.2 - 14 2353 c.2236C>G c.(2236-2238)CGT>GGT p.R746G ANKRD17_uc003hgo.2_Missense_Mutation_p.R633G|ANKRD17_uc003hgq.2_Missense_Mutation_p.R746G|ANKRD17_uc003hgr.2_Missense_Mutation_p.R746G|ANKRD17_uc011cbd.1_Missense_Mutation_p.R311G NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 746 interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ACTGGTACACGAGGAGCCTAA 0.418 NA 7 27 0 0 0 0 ART3 419 broad.mit.edu 37 4 77033553 77033553 + Missense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr4:77033553C>T uc003hjo.2 + 12 1170 c.1051C>T c.(1051-1053)CCT>TCT p.P351S ART3_uc003hjk.2_Missense_Mutation_p.P329S|ART3_uc003hjn.2_Missense_Mutation_p.P340S|ART3_uc003hjp.2_RNA|ART3_uc010ijb.2_RNA|ART3_uc003hjq.2_RNA|ART3_uc003hjr.2_Missense_Mutation_p.P332S|ART3_uc010ijc.2_Missense_Mutation_p.P310S|ART3_uc010ijd.2_Missense_Mutation_p.P310S NM_001130016 NP_001123488 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 isoform a 351 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity ovary(2) 2 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) AGGTCCAGTTCCTGTTCCAGG 0.403 NA 22 72 0 0 0 0 FRAS1 80144 broad.mit.edu 37 4 79455676 79455676 + Missense_Mutation SNP C C G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr4:79455676C>G uc003hlb.2 + 71 11439 c.10999C>G c.(10999-11001)CAG>GAG p.Q3667E NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3662 Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CACTGAATTTCAGCTCTGCAA 0.418 NA 42 115 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187525003 187525003 + Nonsense_Mutation SNP G G C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr4:187525003G>C uc003izf.2 - 19 10865 c.10677C>G c.(10675-10677)TAC>TAG p.Y3559* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3559 Extracellular (Potential).|Cadherin 33. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CGCCACCTGAGTATTCTTCTC 0.468 NA HNSCC(5;0.00058) 15 23 0 0 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79734575 79734575 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr5:79734575A>G uc003kgr.3 + 4 2373 c.2071A>G c.(2071-2073)ATA>GTA p.I691V ZFYVE16_uc010jak.1_Missense_Mutation_p.I691V|ZFYVE16_uc003kgp.2_Missense_Mutation_p.I691V|ZFYVE16_uc003kgq.3_Missense_Mutation_p.I691V|ZFYVE16_uc003kgs.3_Missense_Mutation_p.I691V NM_001105251 NP_001098721 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 691 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) CACTTGTGCTATAGATTCTAC 0.388 NA 16 35 0 0 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834543 101834543 + Silent SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr5:101834543G>A uc003knn.2 - 1 178 c.6C>T c.(4-6)TTC>TTT p.F2F SLCO6A1_uc003kno.2_Silent_p.F2F|SLCO6A1_uc003knp.2_Silent_p.F2F|SLCO6A1_uc003knq.2_Silent_p.F2F NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 2 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CGACGCCTACGAACATGGCTC 0.711 NA 31 140 0 0 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130764620 130764620 + Silent SNP C C G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr5:130764620C>G uc003kvn.1 - 27 4961 c.4755G>C c.(4753-4755)GTG>GTC p.V1585V RAPGEF6_uc003kvp.1_Silent_p.V1635V|RAPGEF6_uc003kvo.1_Intron|RAPGEF6_uc010jdi.1_Silent_p.V1593V|RAPGEF6_uc010jdj.1_Intron|RAPGEF6_uc003kvm.1_Silent_p.V508V NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 1585 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) CTGCATCAGTCACATCTCCTA 0.418 NA 22 74 0 0 0 0 AFF4 27125 broad.mit.edu 37 5 132222032 132222032 + Silent SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr5:132222032C>T uc003kyd.2 - 18 3477 c.3069G>A c.(3067-3069)AAG>AAA p.K1023K AFF4_uc011cxk.1_Silent_p.K701K NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 1023 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCTTTGAGTACTTCAGAGCAT 0.473 NA 38 82 0 0 0 0 PHF15 23338 broad.mit.edu 37 5 133896507 133896507 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr5:133896507A>G uc003kzo.1 + 6 723 c.544A>G c.(544-546)ATG>GTG p.M182V PHF15_uc011cxt.1_Missense_Mutation_p.M182V|PHF15_uc003kzk.2_Missense_Mutation_p.M198V|PHF15_uc003kzl.2_Missense_Mutation_p.M182V|PHF15_uc003kzm.2_Missense_Mutation_p.M182V|PHF15_uc003kzn.2_Missense_Mutation_p.M182V NM_015288 NP_056103 Q9NQC1 JADE2_HUMAN PHD finger protein 15 182 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCACCAGAATATGGCCAGGGC 0.617 NA 10 31 0 0 0 0 C5orf24 134553 broad.mit.edu 37 5 134190804 134190804 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr5:134190804A>G uc003kzx.2 + 2 275 c.214A>G c.(214-216)ATA>GTA p.I72V C5orf24_uc003kzy.3_Missense_Mutation_p.I72V|C5orf24_uc003kzz.2_Missense_Mutation_p.I72V NM_152409 NP_689622 Q7Z6I8 CE024_HUMAN hypothetical protein LOC134553 72 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGGCAGAAGCATAGAAATAAA 0.453 NA 28 55 0 0 0 0 ODZ2 57451 broad.mit.edu 37 5 167655115 167655115 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr5:167655115A>G uc010jjd.2 + 25 5473 c.5473A>G c.(5473-5475)ATC>GTC p.I1825V ODZ2_uc003lzr.3_Missense_Mutation_p.I1595V|ODZ2_uc003lzt.3_Missense_Mutation_p.I1198V|ODZ2_uc010jje.2_Missense_Mutation_p.I1089V NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CAAAGTCACCATCTTTGGCAG 0.498 NA 9 15 0 0 0 0 FOXI1 2299 broad.mit.edu 37 5 169535280 169535280 + Missense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr5:169535280C>T uc003mai.3 + 2 847 c.802C>T c.(802-804)CCC>TCC p.P268S FOXI1_uc003maj.3_Intron NM_012188 NP_036320 Q12951 FOXI1_HUMAN forkhead box I1 isoform a 268 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGAGAAGCGGCCCTCCCCTCC 0.647 NA Pendred_syndrome 17 63 0 0 0 0 ERVFRDE1 405754 broad.mit.edu 37 6 11105000 11105000 + Nonsense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr6:11105000G>A uc003mzt.2 - 2 914 c.544C>T c.(544-546)CAG>TAG p.Q182* LOC221710_uc003mzr.2_Intron|LOC221710_uc011dio.1_Intron NM_207582 NP_997465 P60508 EFRD1_HUMAN syncytin 2 182 Extracellular (Potential). integral to membrane|plasma membrane|virion 0 AAAGTTCCCTGAGGAAAAGTA 0.453 NA 58 176 0 0 0 0 BTN1A1 696 broad.mit.edu 37 6 26509146 26509146 + Missense_Mutation SNP C C G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr6:26509146C>G uc003nif.3 + 7 1345 c.1325C>G c.(1324-1326)TCT>TGT p.S442C NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 442 B30.2/SPRY.|Cytoplasmic (Potential). extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 AATGATGGATCTGATATCTAT 0.517 NA 11 37 0 0 0 0 VARS 7407 broad.mit.edu 37 6 31752260 31752260 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr6:31752260G>A uc003nxe.2 - 12 1910 c.1487C>T c.(1486-1488)ACA>ATA p.T496I VARS_uc011doi.1_RNA NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 496 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity p.T496I(1) upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) GGTGCGACCTGTCAGCTCCTT 0.587 NA 23 60 0 0 0 0 PTK7 5754 broad.mit.edu 37 6 43096755 43096755 + Silent SNP C C T rs140431672 TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr6:43096755C>T uc003oub.1 + 2 318 c.120C>T c.(118-120)TCC>TCT p.S40S PTK7_uc003ouc.1_Silent_p.S40S|PTK7_uc003oud.1_Silent_p.S40S|PTK7_uc003oue.1_Silent_p.S40S|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.S48S|PTK7_uc003oua.2_Silent_p.S40S NM_002821 NP_002812 Q13308 PTK7_HUMAN PTK7 protein tyrosine kinase 7 isoform a 40 Ig-like C2-type 1.|Extracellular (Potential). actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ovary(2)|large_intestine(1) 3 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) AGCCGTCCTCCCAGGATGCAC 0.637 NA 11 50 0 0 0 0 RNGTT 8732 broad.mit.edu 37 6 89650812 89650812 + Nonsense_Mutation SNP G G C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr6:89650812G>C uc003pmr.2 - 2 372 c.152C>G c.(151-153)TCA>TGA p.S51* RNGTT_uc003pms.2_Nonsense_Mutation_p.S51*|RNGTT_uc011dzu.1_Intron|RNGTT_uc003pmt.2_Nonsense_Mutation_p.S51* NM_003800 NP_003791 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 51 TPase. interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.S51*(1) upper_aerodigestive_tract(1) 1 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) TAGGTAATTTGAGAGCATGCT 0.343 NA 15 60 0 0 0 0 ROS1 6098 broad.mit.edu 37 6 117710592 117710592 + Silent SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr6:117710592G>A uc003pxp.1 - 12 1879 c.1680C>T c.(1678-1680)CGC>CGT p.R560R ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 560 Fibronectin type-III 3.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity p.R560C(1) lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GCTCCTGCGGGCGGCCTGGCA 0.552 NA T GOPC|ROS1 glioblastoma|NSCLC 26 83 0 0 0 0 C6orf115 58527 broad.mit.edu 37 6 139363993 139363993 + Silent SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr6:139363993C>T uc003qil.2 + 3 399 c.199C>T c.(199-201)CTG>TTG p.L67L C6orf115_uc003qim.2_Silent_p.L67L NM_021243 NP_067066 Q9P1F3 CF115_HUMAN hypothetical protein LOC58527 67 0 GBM - Glioblastoma multiforme(68;0.000278)|OV - Ovarian serous cystadenocarcinoma(155;0.000413) AGAGCTGCTTCTGCAAGGTGT 0.373 NA 34 101 0 0 0 0 GRM1 2911 broad.mit.edu 37 6 146720766 146720766 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr6:146720766A>G uc010khw.1 + 8 3061 c.2591A>G c.(2590-2592)AAG>AGG p.K864R GRM1_uc010khv.1_Missense_Mutation_p.K864R|GRM1_uc003qll.2_Missense_Mutation_p.K864R|GRM1_uc011edz.1_Missense_Mutation_p.K864R|GRM1_uc011eea.1_Missense_Mutation_p.K864R NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 864 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGCGATGGCAAGCTGCCCTGC 0.493 NA 8 27 0 0 0 0 AKAP12 9590 broad.mit.edu 37 6 151672243 151672243 + Missense_Mutation SNP T T C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr6:151672243T>C uc011eep.1 + 4 2957 c.2717T>C c.(2716-2718)ATT>ACT p.I906T AKAP12_uc003qoe.2_Missense_Mutation_p.I906T|AKAP12_uc003qof.2_Missense_Mutation_p.I808T|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.I801T NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 906 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding p.I906T(1) large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GCTACCATTATTGAAGAAAGG 0.507 NA 15 41 0 0 0 0 SP8 221833 broad.mit.edu 37 7 20824320 20824321 + Missense_Mutation DNP GC GC AA TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr7:20824320_20824321GC>AA uc003suy.2 - 3 1302_1303 c.1061_1062GC>TT c.(1060-1062)GGC>GTT p.G354V SP8_uc003suz.2_Missense_Mutation_p.G372V NM_198956 NP_945194 Q8IXZ3 SP8_HUMAN Sp8 transcription factor isoform 2 354 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 AGCTGTGCAGGCCCTTGCGCCG 0.718 NA 8 20 0 0 0 0 C7orf36 57002 broad.mit.edu 37 7 39606030 39606030 + Nonsense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr7:39606030C>T uc003thc.3 + 1 22 c.13C>T c.(13-15)CAA>TAA p.Q5* NM_020192 NP_064577 Q9NRH1 CG036_HUMAN hypothetical protein LOC57002 5 0 GTCGTGGGTTCAAGCAGCCTC 0.622 NA 15 26 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82545553 82545553 + Missense_Mutation SNP G G T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr7:82545553G>T uc003uhx.2 - 7 12038 c.11749C>A c.(11749-11751)CAG>AAG p.Q3917K PCLO_uc003uhv.2_Missense_Mutation_p.Q3917K|PCLO_uc010lec.2_Missense_Mutation_p.Q882K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3848 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GAAACTTGCTGATGGTACAAA 0.463 NA 119 316 3.9e-80 4.5e-80 1 0 PRKAR2B 5577 broad.mit.edu 37 7 106781346 106781346 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr7:106781346G>A uc003vdx.2 + 5 710 c.535G>A c.(535-537)GAG>AAG p.E179K NM_002736 NP_002727 P31323 KAP3_HUMAN cAMP-dependent protein kinase, regulatory 179 cAMP 1. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity ovary(1) 1 CAAAGATGGGGAGCATGTAAT 0.328 NA 7 44 0 0 0 0 NDUFA5 4698 broad.mit.edu 37 7 123185711 123185711 + Nonsense_Mutation SNP A A C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr7:123185711A>C uc003vks.2 - 4 312 c.203T>G c.(202-204)TTA>TGA p.L68* NDUFA5_uc003vkr.2_RNA NM_005000 NP_004991 Q16718 NDUA5_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 68 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 NADH(DB00157) TTGGTCTTCTAATTTTTTAAC 0.303 NA 3 82 0 0 0 0 NUP205 23165 broad.mit.edu 37 7 135279436 135279436 + Missense_Mutation SNP G G C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr7:135279436G>C uc003vsw.2 + 13 2003 c.1972G>C c.(1972-1974)GAA>CAA p.E658Q NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 658 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 AAAATCTCCTGAAATTGCTGC 0.463 NA 20 48 0 0 0 0 KIAA1549 57670 broad.mit.edu 37 7 138602949 138602949 + Missense_Mutation SNP C C G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr7:138602949C>G uc011kql.1 - 2 1472 c.1423G>C c.(1423-1425)GAG>CAG p.E475Q KIAA1549_uc003vuk.3_Missense_Mutation_p.E425Q|KIAA1549_uc011kqj.1_Missense_Mutation_p.E475Q NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 475 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 GGATCTTCCTCAAATTCAGAG 0.483 NA O BRAF pilocytic astrocytoma 14 31 0 0 0 0 PRSS1 5644 broad.mit.edu 37 7 142458409 142458409 + Missense_Mutation SNP C C T rs147886164 by1000genomes TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr7:142458409C>T uc003wak.2 + 2 61 c.44C>T c.(43-45)GCT>GTT p.A15V uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_Intron|PRSS1_uc003wam.2_5'Flank NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 15 digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ACTCCAGTTGCTGCCCCCTTT 0.502 NA Hereditary_Pancreatitis 42 222 0 0 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497609 1497609 + Silent SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr8:1497609G>A uc003wpl.2 + 2 847 c.750G>A c.(748-750)GCG>GCA p.A250A DLGAP2_uc003wpm.2_Silent_p.A250A NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 329 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ACCCCGACGCGCTGCAGAGCC 0.677 NA 36 65 0 0 0 0 VPS37A 137492 broad.mit.edu 37 8 17142026 17142026 + Silent SNP A A T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr8:17142026A>T uc003wxj.2 + 10 1367 c.1014A>T c.(1012-1014)GCA>GCT p.A338A VPS37A_uc003wxk.2_Silent_p.A313A|VPS37A_uc003wxl.2_Silent_p.A109A NM_152415 NP_689628 Q8NEZ2 VP37A_HUMAN hepatocellular carcinoma related protein 1 338 VPS37 C-terminal. cellular membrane organization|endosome transport|protein transport centrosome|late endosome membrane|nucleus 0 Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212) AAGTAGCTGCACATGAAGCTG 0.393 NA 27 21 0 0 0 0 STC1 6781 broad.mit.edu 37 8 23709899 23709899 + Splice_Site SNP T T A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr8:23709899T>A uc003xdw.1 - 2 403 c.119_splice c.e2-1 p.A40_splice NM_003155 NP_003146 P52823 STC1_HUMAN stanniocalcin 1 precursor cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity p.?(1) skin(3)|upper_aerodigestive_tract(1) 4 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) CCACTTCAGCTGAAAGAGACA 0.507 NA 19 34 0 0 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768159 77768159 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr8:77768159G>A uc003yav.2 + 10 9254 c.8867G>A c.(8866-8868)GGA>GAA p.G2956E ZFHX4_uc003yau.1_Missense_Mutation_p.G3001E|ZFHX4_uc003yaw.1_Missense_Mutation_p.G2956E NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2956 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AATCAAGGCGGAACGGAAGGC 0.463 NA HNSCC(33;0.089) 9 30 0 0 0 0 CCNE2 9134 broad.mit.edu 37 8 95894373 95894373 + Missense_Mutation SNP T T C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr8:95894373T>C uc003yhc.2 - 11 1197 c.1088A>G c.(1087-1089)TAT>TGT p.Y363C CCNE2_uc003yhd.2_Missense_Mutation_p.Y363C NM_057749 NP_477097 O96020 CCNE2_HUMAN cyclin E2 363 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding 0 Breast(36;8.75e-07) CATAGCCAAATAGTTTGTATG 0.363 NA 21 76 0 0 0 0 VPS13B 157680 broad.mit.edu 37 8 100831673 100831673 + Silent SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr8:100831673C>T uc003yiv.2 + 48 8841 c.8730C>T c.(8728-8730)CCC>CCT p.P2910P VPS13B_uc003yiw.2_Silent_p.P2885P NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2910 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GTGCAGTTCCCATCTCAACAT 0.363 NA 7 60 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110456987 110456987 + Missense_Mutation SNP G G C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr8:110456987G>C uc003yne.2 + 38 4993 c.4889G>C c.(4888-4890)AGG>ACG p.R1630T NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1630 Extracellular (Potential).|IPT/TIG 8. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTTGGTATCAGGGAAACTGTC 0.413 NA HNSCC(38;0.096) 67 293 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 114327022 114327022 + Missense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr8:114327022C>T uc003ynu.2 - 2 338 c.179G>A c.(178-180)GGA>GAA p.G60E CSMD3_uc003ynt.2_Missense_Mutation_p.G20E|CSMD3_uc011lhx.1_Missense_Mutation_p.G60E|CSMD3_uc010mcx.1_Missense_Mutation_p.G60E|CSMD3_uc003ynx.3_Missense_Mutation_p.G60E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 60 Helical; (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 ATAAATAAATCCTGCAACAAA 0.318 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 22 93 0 0 0 0 MTBP 27085 broad.mit.edu 37 8 121475947 121475947 + Silent SNP T T C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr8:121475947T>C uc003ypc.1 + 10 1038 c.993T>C c.(991-993)AGT>AGC p.S331S MTBP_uc011lie.1_RNA NM_022045 NP_071328 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 331 cell cycle arrest skin(2)|ovary(1) 3 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TGACAAACAGTACCAAACAGA 0.343 NA 24 136 0 0 0 0 FAM84B 157638 broad.mit.edu 37 8 127569307 127569307 + Nonsense_Mutation SNP C C A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr8:127569307C>A uc003yrz.1 - 2 612 c.328G>T c.(328-330)GAG>TAG p.E110* NM_174911 NP_777571 Q96KN1 FA84B_HUMAN family with sequence similarity 84, member B 110 cytoplasm|plasma membrane protein binding 0 Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135) STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723) AGCAGGTTCTCGGGCGTGTAG 0.617 NA 25 25 3.08e-08 3.42e-08 1 0 PLEC 5339 broad.mit.edu 37 8 144993792 144993792 + Silent SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr8:144993792C>T uc003zaf.1 - 32 10778 c.10608G>A c.(10606-10608)GTG>GTA p.V3536V PLEC_uc003zab.1_Silent_p.V3399V|PLEC_uc003zac.1_Silent_p.V3403V|PLEC_uc003zad.2_Silent_p.V3399V|PLEC_uc003zae.1_Silent_p.V3367V|PLEC_uc003zag.1_Silent_p.V3377V|PLEC_uc003zah.2_Silent_p.V3385V|PLEC_uc003zaj.2_Silent_p.V3426V NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3536 Plectin 13.|Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GCACGGGGTCCACCAGGAAGC 0.692 NA 10 26 0 0 0 0 SLC24A2 25769 broad.mit.edu 37 9 19516220 19516220 + Silent SNP G G C rs41270119 TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr9:19516220G>C uc003zoa.1 - 10 1979 c.1917C>G c.(1915-1917)CTC>CTG p.L639L SLC24A2_uc003zob.1_Silent_p.L622L NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 639 Helical; (Potential). visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) ACACAAAGTAGAGGCCAAACA 0.488 NA 33 207 0 0 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88961250 88961250 + Missense_Mutation SNP C C G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr9:88961250C>G uc004aoq.2 - 3 881 c.666G>C c.(664-666)GAG>GAC p.E222D ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.E222D|ZCCHC6_uc004aou.2_Missense_Mutation_p.E222D|ZCCHC6_uc004aov.2_Missense_Mutation_p.E222D|ZCCHC6_uc004aow.2_Missense_Mutation_p.E222D NM_024617 NP_078893 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 222 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding ovary(2) 2 TCTTCAGTCTCTCCTCAGCCT 0.423 NA 30 134 0 0 0 0 GRIN3A 116443 broad.mit.edu 37 9 104433149 104433149 + Missense_Mutation SNP C C G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr9:104433149C>G uc004bbp.1 - 3 2146 c.1545G>C c.(1543-1545)TTG>TTC p.L515F GRIN3A_uc004bbq.1_Missense_Mutation_p.L515F NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 515 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) TAACCACTCTCAAGTGTAGCT 0.507 NA 26 142 0 0 0 0 CYLC2 1539 broad.mit.edu 37 9 105767470 105767470 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr9:105767470A>G uc004bbs.2 + 5 627 c.557A>G c.(556-558)AAG>AGG p.K186R NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 186 3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.|2. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) ggaggtgcaaagaaagataac 0.139 NA 6 12 0 0 0 0 GLE1 2733 broad.mit.edu 37 9 131285595 131285595 + Silent SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr9:131285595A>G uc004bvj.2 + 5 732 c.618A>G c.(616-618)AAA>AAG p.K206K GLE1_uc004bvi.2_Silent_p.K206K|GLE1_uc010myd.2_5'UTR NM_001003722 NP_001003722 Q53GS7 GLE1_HUMAN GLE1 RNA export mediator homolog isoform 1 206 Potential. poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear pore protein binding 0 AGAAGCTAAAAGCTGAGCACC 0.473 NA 3 86 0 0 0 0 SARDH 1757 broad.mit.edu 37 9 136582547 136582547 + Missense_Mutation SNP C C A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr9:136582547C>A uc004cep.3 - 8 1185 c.1051G>T c.(1051-1053)GAC>TAC p.D351Y SARDH_uc004ceo.2_Missense_Mutation_p.D351Y|SARDH_uc011mdn.1_Missense_Mutation_p.D351Y|SARDH_uc011mdo.1_Missense_Mutation_p.D183Y NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 351 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) CAGTCCAGGTCAAAGAGGCCG 0.597 NA 10 43 2.81e-09 3.14e-09 1 0 NLGN4X 57502 broad.mit.edu 37 X 6069124 6069124 + Missense_Mutation SNP A A C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:6069124A>C uc010ndh.2 - 2 885 c.384T>G c.(382-384)TTT>TTG p.F128L NLGN4X_uc004crp.2_Missense_Mutation_p.F128L|NLGN4X_uc004crq.2_Missense_Mutation_p.F128L|NLGN4X_uc010ndi.2_Missense_Mutation_p.F128L|NLGN4X_uc004crr.2_Missense_Mutation_p.F128L|NLGN4X_uc010ndj.2_Missense_Mutation_p.F128L NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 128 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 AATTGGCGGTAAACCAGATGG 0.478 NA 25 90 0 0 0 0 TBL1X 6907 broad.mit.edu 37 X 9652149 9652149 + Missense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:9652149C>T uc010ndq.2 + 6 646 c.278C>T c.(277-279)ACG>ATG p.T93M TBL1X_uc004csq.3_Missense_Mutation_p.T42M|TBL1X_uc010ndr.2_Missense_Mutation_p.T42M|TBL1X_uc004csr.2_Missense_Mutation_p.T93M|TBL1X_uc004css.2_Missense_Mutation_p.T44M NM_001139466 NP_001132938 O60907 TBL1X_HUMAN transducin beta-like 1X isoform a 93 F-box-like. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Hepatocellular(5;0.000888) ATCAATGGGACGCTAGTGCCA 0.567 NA 16 60 0 0 0 0 OFD1 8481 broad.mit.edu 37 X 13769430 13769430 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:13769430A>G uc004cvp.3 + 10 1357 c.998A>G c.(997-999)CAG>CGG p.Q333R OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_Missense_Mutation_p.Q193R|OFD1_uc010nen.2_Missense_Mutation_p.Q332R|OFD1_uc004cvs.3_Intron|OFD1_uc004cvu.3_Intron|OFD1_uc004cvv.3_Intron|OFD1_uc010neo.1_Intron NM_003611 NP_003602 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 333 Potential. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding 0 AGACAGGAGCAGAATATAAAG 0.303 NA 24 48 0 0 0 0 PRDX4 10549 broad.mit.edu 37 X 23700515 23700515 + Missense_Mutation SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:23700515G>A uc004dam.2 + 5 645 c.602G>A c.(601-603)GGT>GAT p.G201D NM_006406 NP_006397 Q13162 PRDX4_HUMAN peroxiredoxin 4 201 Thioredoxin. cell redox homeostasis|I-kappaB phosphorylation thioredoxin peroxidase activity p.G201D(1) upper_aerodigestive_tract(1) 1 TTTTACAGAGGTCTCTTCATT 0.373 NA 12 37 0 0 0 0 FAM47C 442444 broad.mit.edu 37 X 37027222 37027222 + Missense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:37027222C>T uc004ddl.1 + 1 753 c.739C>T c.(739-741)CGC>TGC p.R247C NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 247 ovary(3) 3 GTCCCATCTCCGCCCAGAGCC 0.627 NA 18 66 0 0 0 0 NDUFB11 54539 broad.mit.edu 37 X 47002066 47002066 + Silent SNP G G A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:47002066G>A uc004dhd.2 - 2 816 c.285C>T c.(283-285)GTC>GTT p.V95V NDUFB11_uc004dhc.2_Silent_p.V95V|RBM10_uc004dhe.1_5'Flank|RBM10_uc004dhf.2_5'Flank|RBM10_uc004dhg.2_5'Flank|RBM10_uc004dhh.2_5'Flank|RBM10_uc010nhq.2_5'Flank|RBM10_uc004dhi.2_5'Flank NM_001135998 NP_001129470 Q9NX14 NDUBB_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 95 Helical; (Potential). respiratory electron transport chain|transport integral to membrane|mitochondrial respiratory chain complex I 0 GGATGATGGAGACGCCAAAGA 0.537 NA 27 61 0 0 0 0 HDAC6 10013 broad.mit.edu 37 X 48665100 48665100 + Missense_Mutation SNP A A T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:48665100A>T uc011mmi.1 + 8 714 c.619A>T c.(619-621)ATG>TTG p.M207L HDAC6_uc004dks.1_Missense_Mutation_p.M207L|HDAC6_uc010nig.1_Missense_Mutation_p.M55L|HDAC6_uc004dkt.1_Missense_Mutation_p.M207L|HDAC6_uc004dku.3_3'UTR|HDAC6_uc011mmj.1_Missense_Mutation_p.M152L|HDAC6_uc011mmk.1_Missense_Mutation_p.M188L NM_006044 NP_006035 Q9UBN7 HDAC6_HUMAN histone deacetylase 6 207 Histone deacetylase 1. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding p.M207L(1) ovary(3)|upper_aerodigestive_tract(1) 4 Vorinostat(DB02546) CCGGAATGGCATGGCCATCAT 0.473 NA 13 31 0 0 0 0 HEPH 9843 broad.mit.edu 37 X 65392280 65392280 + Missense_Mutation SNP A A T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:65392280A>T uc011moz.1 + 3 320 c.260A>T c.(259-261)GAC>GTC p.D87V HEPH_uc004dwn.2_Missense_Mutation_p.D87V|HEPH_uc004dwo.2_5'UTR|HEPH_uc010nkr.2_Missense_Mutation_p.D87V|HEPH_uc011mpa.1_Missense_Mutation_p.D87V NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 84 Extracellular (Potential).|Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 TACAAGGATGACTCATACACA 0.478 NA 13 41 0 0 0 0 HEPH 9843 broad.mit.edu 37 X 65393633 65393633 + Silent SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:65393633C>T uc011moz.1 + 4 684 c.624C>T c.(622-624)ACC>ACT p.T208T HEPH_uc004dwn.2_Silent_p.T208T|HEPH_uc004dwo.2_5'UTR|HEPH_uc010nkr.2_Silent_p.T208T|HEPH_uc011mpa.1_Silent_p.T208T NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 205 Extracellular (Potential).|Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 CTCTCATCACCTGTAAAAGAG 0.498 NA 5 13 0 0 0 0 TAF1 6872 broad.mit.edu 37 X 70612527 70612527 + Missense_Mutation SNP T T A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:70612527T>A uc004dzu.3 + 19 2938 c.2887T>A c.(2887-2889)TTC>ATC p.F963I BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.F984I|TAF1_uc004dzv.3_Missense_Mutation_p.F137I NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 963 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) TGGTGAAGGATTCTCCTATGT 0.488 NA 17 78 0 0 0 0 GPR174 84636 broad.mit.edu 37 X 78427029 78427029 + Missense_Mutation SNP G G C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:78427029G>C uc004edg.1 + 1 561 c.525G>C c.(523-525)AGG>AGC p.R175S NM_032553 NP_115942 Q9BXC1 GP174_HUMAN putative purinergic receptor FKSG79 175 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1)|central_nervous_system(1) 2 TTCCTACCAGGAATGTCAACC 0.483 NA HNSCC(63;0.18) 19 64 0 0 0 0 TBX22 50945 broad.mit.edu 37 X 79283536 79283536 + Missense_Mutation SNP T T C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:79283536T>C uc010nmg.1 + 8 1044 c.910T>C c.(910-912)TTC>CTC p.F304L TBX22_uc004edi.1_Missense_Mutation_p.F184L|TBX22_uc004edj.1_Missense_Mutation_p.F304L NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 304 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 GAGGCCTTCTTTCACTCTCGA 0.368 NA 13 56 0 0 0 0 HDX 139324 broad.mit.edu 37 X 83724401 83724401 + Missense_Mutation SNP T T C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:83724401T>C uc004eek.1 - 3 439 c.330A>G c.(328-330)ATA>ATG p.I110M HDX_uc011mqv.1_Missense_Mutation_p.I110M|HDX_uc004eel.1_Missense_Mutation_p.I52M NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 110 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.I110M(1) upper_aerodigestive_tract(1)|ovary(1) 2 CTGGACTGTATATACCAGTTA 0.408 NA 28 89 0 0 0 0 TCEAL7 56849 broad.mit.edu 37 X 102586386 102586386 + Missense_Mutation SNP A A T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:102586386A>T uc004ekc.1 + 3 268 c.55A>T c.(55-57)AGG>TGG p.R19W NM_152278 NP_689491 Q9BRU2 TCAL7_HUMAN transcription elongation factor A (SII)-like 7 19 negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.R19W(1) upper_aerodigestive_tract(1) 1 cgtgccaaagagggaggaaaa 0.05 NA 3 8 0 0 0 0 VSIG1 340547 broad.mit.edu 37 X 107301344 107301344 + Missense_Mutation SNP C C G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:107301344C>G uc004eno.2 + 2 287 c.126C>G c.(124-126)ATC>ATG p.I42M VSIG1_uc011msk.1_Missense_Mutation_p.I42M NM_182607 NP_872413 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 42 Extracellular (Potential).|Ig-like V-type 1. integral to membrane p.I42M(2) upper_aerodigestive_tract(1)|ovary(1) 2 TCACTCTCATCTGCATCTACA 0.448 NA 19 56 0 0 0 0 IL13RA2 3598 broad.mit.edu 37 X 114238663 114238663 + Missense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:114238663C>T uc004epx.2 - 10 1248 c.1123G>A c.(1123-1125)GAA>AAA p.E375K NM_000640 NP_000631 Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 precursor 375 Cytoplasmic (Potential). extracellular space|integral to membrane|soluble fraction cytokine receptor activity p.E375K(1) upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 CAGAAAAATTCTGGAATCTAG 0.333 NA 6 16 0 0 0 0 IGSF1 3547 broad.mit.edu 37 X 130415220 130415220 + Silent SNP T T G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:130415220T>G uc004ewd.2 - 9 1856 c.1618A>C c.(1618-1620)AGG>CGG p.R540R IGSF1_uc004ewe.3_Silent_p.R529R|IGSF1_uc004ewf.2_Silent_p.R520R NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 540 Cytoplasmic (Potential). regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 CACTTCCACCTTATCCACAGC 0.493 NA 78 215 0 0 0 0 MCF2 4168 broad.mit.edu 37 X 138686866 138686866 + Nonsense_Mutation SNP T T A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:138686866T>A uc004fau.2 - 15 2011 c.1717A>T c.(1717-1719)AGA>TGA p.R573* MCF2_uc004fav.2_Nonsense_Mutation_p.R589*|MCF2_uc011mwl.1_Nonsense_Mutation_p.R550*|MCF2_uc010nsh.1_Nonsense_Mutation_p.R573*|MCF2_uc011mwm.1_Nonsense_Mutation_p.R534*|MCF2_uc011mwn.1_Nonsense_Mutation_p.R718*|MCF2_uc004faw.2_Nonsense_Mutation_p.R633*|MCF2_uc011mwo.1_Nonsense_Mutation_p.R649* NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 573 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) GGTCCCACTCTTTCTGGAGCA 0.308 NA 8 14 0 0 0 0 HCFC1 3054 broad.mit.edu 37 X 153227686 153227686 + Missense_Mutation SNP T T C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:153227686T>C uc004fjp.2 - 5 1312 c.784A>G c.(784-786)ACC>GCC p.T262A NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 262 Kelch 4. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTTCCGATGGTGGTTGCCGAG 0.587 NA 3 30 0 0 0 0 FAM24B 196792 broad.mit.edu 37 10 124610029 124610030 + Frame_Shift_Ins INS - - A rs146874803 TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr10:124610029_124610030insA uc001lgt.2 - 3 336_337 c.2_3insT c.(1-3)ATGfs p.M1fs CUZD1_uc001lgs.2_5'UTR|CUZD1_uc010qtz.1_Intron|LOC399815_uc001lgu.3_5'Flank NM_152644 NP_689857 Q8N5W8 FA24B_HUMAN hypothetical protein LOC196792 precursor 1 extracellular region 0 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141) CGATGACAGGCATAATCACTGT 0.5 NA 26 71 --- --- --- --- NA NA NA NA MLL 4297 broad.mit.edu 37 11 118368762 118368763 + Frame_Shift_Ins INS - - T rs140545520 TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr11:118368762_118368763insT uc001pta.2 + 21 5790_5791 c.5767_5768insT c.(5767-5769)ATGfs p.M1923fs MLL_uc001ptb.2_Frame_Shift_Ins_p.M1926fs NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1923 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GAATGTGCATATGGCTGTGATC 0.406 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 22 82 --- --- --- --- NA NA NA NA MDGA2 161357 broad.mit.edu 37 14 47566080 47566080 + Frame_Shift_Del DEL T T - TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr14:47566080delT uc001wwj.3 - 6 1161 c.965delA c.(964-966)AAGfs p.K322fs MDGA2_uc001wwi.3_Frame_Shift_Del_p.K93fs|MDGA2_uc010ani.2_5'UTR NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 322 Ig-like 3. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 GTTGGTGGACTTTTTTGCAGG 0.393 NA 25 104 --- --- --- --- NA NA NA NA ABR 29 broad.mit.edu 37 17 914076 914077 + In_Frame_Ins INS - - TCA TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr17:914076_914077insTCA uc002fsd.2 - 20 2238_2239 c.2128_2129insTGA c.(2128-2130)AGT>ATGAGT p.709_710insM ABR_uc002fse.2_In_Frame_Ins_p.663_664insM|ABR_uc010vqf.1_In_Frame_Ins_p.160_161insM|ABR_uc010vqg.1_In_Frame_Ins_p.491_492insM|ABR_uc002fsg.2_In_Frame_Ins_p.672_673insM|ABR_uc002fsh.1_In_Frame_Ins_p.317_318insM|ABR_uc002fsf.2_In_Frame_Ins_p.246_247insM NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related 709_710 Rho-GAP. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity p.S710delS(1) upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) GTCCATGTCACTCAGCATCAGC 0.634 NA 69 93 --- --- --- --- NA NA NA NA USP34 9736 broad.mit.edu 37 2 61515972 61515973 + Frame_Shift_Ins INS - - A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr2:61515972_61515973insA uc002sbe.2 - 34 4610_4611 c.4588_4589insT c.(4588-4590)TGCfs p.C1530fs NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 1530 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) TGCAAACTGGCATATTAACTTC 0.411 NA 20 40 --- --- --- --- NA NA NA NA SLC25A12 8604 broad.mit.edu 37 2 172644450 172644451 + Frame_Shift_Ins INS - - G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr2:172644450_172644451insG uc002uhh.2 - 16 1681_1682 c.1592_1593insC c.(1591-1593)CCAfs p.P531fs SLC25A12_uc010fqh.2_Frame_Shift_Ins_p.P424fs NM_003705 NP_003696 O75746 CMC1_HUMAN solute carrier family 25, member 12 531 Helical; Name=5; (Potential).|Solcar 3. gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) GAGATGCAGCTGGGACACCTTT 0.465 NA 16 39 --- --- --- --- NA NA NA NA CXCL9 4283 broad.mit.edu 37 4 76928561 76928572 + In_Frame_Del DEL CAAGATGATGCC CAAGATGATGCC - TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr4:76928561_76928572delCAAGATGATGCC uc003hjh.1 - 1 70_81 c.31_42delGGCATCATCTTG c.(31-42)GGCATCATCTTGdel p.GIIL11del NM_002416 NP_002407 Q07325 CXCL9_HUMAN small inducible cytokine B9 precursor 11_14 cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space chemokine activity ovary(1) 1 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TCAGAACCAGCAAGATGATGCCCAAGAGGAAA 0.396 NA 11 101 --- --- --- --- NA NA NA NA ARHGAP26 23092 broad.mit.edu 37 5 142513667 142513667 + Frame_Shift_Del DEL A A - TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr5:142513667delA uc011dbj.1 + 19 1869 c.1834delA c.(1834-1836)AAAfs p.K612fs ARHGAP26_uc003lmt.2_Frame_Shift_Del_p.K612fs|ARHGAP26_uc003lmw.2_Frame_Shift_Del_p.K612fs NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN GTPase regulator associated with the focal 612 Ser-rich. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(1) 1 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTCAACAGAGAAACGTGAGTC 0.587 NA 18 87 --- --- --- --- NA NA NA NA UFSP1 402682 broad.mit.edu 37 7 100486561 100486562 + Frame_Shift_Del DEL CC CC - TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr7:100486561_100486562delCC uc003uxc.3 - 1 778_779 c.331_332delGG c.(331-333)GGCfs p.G111fs uc010lhm.1_5'Flank NM_001015072 NP_001015072 Q6NVU6 UFSP1_HUMAN inactive Ufm1-specific protease 1 111 0 Lung NSC(181;0.041)|all_lung(186;0.0581) CTCTTGCCAGCCCACCCACCCA 0.584 NA 24 100 --- --- --- --- NA NA NA NA JHDM1D 80853 broad.mit.edu 37 7 139810963 139810964 + Frame_Shift_Ins INS - - A TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chr7:139810963_139810964insA uc003vvm.2 - 11 1363_1364 c.1359_1360insT c.(1357-1362)TTTGAAfs p.F453fs JHDM1D_uc010lng.2_RNA NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 453_454 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) TCTGGAATTTCAAAGGCATGTT 0.297 NA 12 56 --- --- --- --- NA NA NA NA SLC9A6 10479 broad.mit.edu 37 X 135098865 135098865 + Frame_Shift_Del DEL T T - TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2d859062-3655-471e-b3dd-e6ff0671c076 6146d8e5-9bb7-47ef-b2e6-c4d9cd4a4cab g.chrX:135098865delT uc004ezj.2 + 10 1278 c.1202delT c.(1201-1203)CTGfs p.L401fs SLC9A6_uc004ezk.2_Frame_Shift_Del_p.L433fs NM_006359 NP_006350 Q92581 SL9A6_HUMAN solute carrier family 9 (sodium/hydrogen 401 Helical; (Potential). regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) GGGCTGACACTGTTCACCTTC 0.333 NA 25 65 --- --- --- --- NA NA NA NA