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 PRAMEF11 440560 broad.mit.edu 37 1 12887574 12887574 + Missense_Mutation SNP C C G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr1:12887574C>G uc001auk.2 - 3 479 c.283G>C c.(283-285)GTG>CTG p.V95L NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 95 0 CAGTCCTGCACTGGTGTTTTG 0.498 NA 11 236 0 0 0 0 TTF2 8458 broad.mit.edu 37 1 117624536 117624536 + Nonsense_Mutation SNP A A T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr1:117624536A>T uc001egy.2 + 10 1890 c.1870A>T c.(1870-1872)AAA>TAA p.K624* TTF2_uc001egx.1_Nonsense_Mutation_p.K624* NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 624 Helicase ATP-binding. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) AGAAAAGGAGAAAAGCACAGC 0.453 NA 5 53 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152280551 152280551 + Missense_Mutation SNP C C A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr1:152280551C>A uc001ezu.1 - 3 6847 c.6811G>T c.(6811-6813)GCT>TCT p.A2271S NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2271 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCTCCTGAGCAGATCCATGA 0.582 NA Ichthyosis 25 264 5.45e-15 7.68e-15 1 0 C1orf114 57821 broad.mit.edu 37 1 169390949 169390949 + Silent SNP A A C TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr1:169390949A>C uc001gga.1 - 3 888 c.720T>G c.(718-720)CCT>CCG p.P240P C1orf114_uc001gfz.1_Silent_p.P240P|C1orf114_uc009wvq.1_Silent_p.P240P|C1orf114_uc001ggb.2_Silent_p.P240P|C1orf114_uc001ggc.1_Silent_p.P240P NM_021179 NP_067002 Q5TID7 CA114_HUMAN hypothetical protein LOC57821 240 0 all_hematologic(923;0.208) TATTAATGGGAGGCAAAAACC 0.408 NA 17 109 0 0 0 0 SRGAP2 23380 broad.mit.edu 37 1 206628236 206628236 + Silent SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr1:206628236C>T uc001hdy.2 + 18 2445 c.2112C>T c.(2110-2112)GTC>GTT p.V704V SRGAP2_uc001hdx.2_Silent_p.V704V|SRGAP2_uc010pru.1_Silent_p.V627V NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 791 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) AGGACGGTGTCGTGGAGAGGT 0.597 NA 4 34 0 0 0 0 C10orf107 219621 broad.mit.edu 37 10 63450358 63450358 + Silent SNP A A G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr10:63450358A>G uc010qik.1 + 4 572 c.267A>G c.(265-267)GAA>GAG p.E89E NM_173554 NP_775825 Q8IVU9 CJ107_HUMAN hypothetical protein LOC219621 89 0 Prostate(12;0.016) CTGCCAGGGAAGAAATTGTGA 0.343 NA 7 46 0 0 0 0 SYT9 143425 broad.mit.edu 37 11 7439283 7439283 + Missense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr11:7439283G>A uc001mfe.2 + 5 1498 c.1261G>A c.(1261-1263)GAA>AAA p.E421K SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 421 Cytoplasmic (Potential).|C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TGTTTACAACGAAGCCATAGT 0.468 NA 6 61 0 0 0 0 OR4C16 219428 broad.mit.edu 37 11 55339695 55339695 + Missense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr11:55339695G>A uc010rih.1 + 1 92 c.92G>A c.(91-93)CGT>CAT p.R31H NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) ATTTTTTTGCGTCTCTACTTG 0.368 NA 7 89 0 0 0 0 WDR74 54663 broad.mit.edu 37 11 62606655 62606655 + Missense_Mutation SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr11:62606655C>T uc001nvm.1 - 4 392 c.224G>A c.(223-225)GGC>GAC p.G75D WDR74_uc001nvk.1_Missense_Mutation_p.G18D|WDR74_uc001nvl.1_Missense_Mutation_p.G75D|WDR74_uc001nvn.1_Missense_Mutation_p.G127D|WDR74_uc009yoi.1_Missense_Mutation_p.G75D|WDR74_uc010rmk.1_Missense_Mutation_p.G75D NM_018093 NP_060563 Q6RFH5 WDR74_HUMAN WD repeat domain 74 75 WD 1. nucleolus ovary(1) 1 CTGGAATATGCCATCCTCGGT 0.652 NA 4 46 0 0 0 0 SESN3 143686 broad.mit.edu 37 11 94911920 94911920 + Missense_Mutation SNP T T G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr11:94911920T>G uc001pfk.1 - 7 1232 c.1010A>C c.(1009-1011)GAC>GCC p.D337A SESN3_uc010rug.1_Missense_Mutation_p.D198A NM_144665 NP_653266 P58005 SESN3_HUMAN sestrin 3 337 cell cycle arrest nucleus 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) TCTGGCAAAGTCTTCATACCC 0.363 NA 7 46 0 0 0 0 ST8SIA1 6489 broad.mit.edu 37 12 22408274 22408274 + Missense_Mutation SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr12:22408274C>T uc001rfo.3 - 3 913 c.431G>A c.(430-432)GGT>GAT p.G144D ST8SIA1_uc009zix.2_Intron NM_003034 NP_003025 Q92185 SIA8A_HUMAN alpha-2,8-sialyltransferase 1 144 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(3) 3 CAGAATCCCACCATTTCCCAC 0.517 NA 10 100 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49445626 49445626 + Nonsense_Mutation SNP C C A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr12:49445626C>A uc001rta.3 - 10 1840 c.1840G>T c.(1840-1842)GAG>TAG p.E614* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 614 15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AGGGGAGACTCCTCAGGTGGA 0.602 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 9 49 2.18e-05 3.01e-05 1 0 KIF5A 3798 broad.mit.edu 37 12 57958726 57958726 + Silent SNP C C T rs143178113 TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr12:57958726C>T uc001sor.1 + 6 679 c.471C>T c.(469-471)CAC>CAT p.H157H KIF5A_uc010srr.1_Silent_p.H68H NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 157 Kinesin-motor. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 TGTCCGTGCACGAGGACAAGA 0.532 NA 6 33 0 0 0 0 THAP2 83591 broad.mit.edu 37 12 72070612 72070612 + Silent SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr12:72070612G>A uc001swq.2 + 3 917 c.411G>A c.(409-411)AGG>AGA p.R137R NM_031435 NP_113623 Q9H0W7 THAP2_HUMAN THAP domain containing, apoptosis associated 137 nucleolus DNA binding|metal ion binding ovary(1) 1 CAAAAAAGAGGATCATTAAAC 0.383 NA 6 65 0 0 0 0 SACS 26278 broad.mit.edu 37 13 23914846 23914846 + Missense_Mutation SNP C C G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr13:23914846C>G uc001uon.2 - 10 3758 c.3169G>C c.(3169-3171)GAT>CAT p.D1057H SACS_uc001uoo.2_Missense_Mutation_p.D910H|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1057 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ACTTCTATATCAGGGTCAAAG 0.373 NA 5 115 0 0 0 0 SMOC1 64093 broad.mit.edu 37 14 70444647 70444647 + Missense_Mutation SNP A A G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr14:70444647A>G uc001xls.1 + 5 744 c.491A>G c.(490-492)GAC>GGC p.D164G SMOC1_uc001xlt.1_Missense_Mutation_p.D164G NM_022137 NP_071420 Q9H4F8 SMOC1_HUMAN secreted modular calcium-binding protein 1 164 cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding upper_aerodigestive_tract(1)|pancreas(1) 2 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) TCAGTCACCGACAAGCCCTTG 0.433 NA 6 56 0 0 0 0 EFTUD1 79631 broad.mit.edu 37 15 82444535 82444535 + Nonsense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr15:82444535G>A uc002bgt.1 - 18 2429 c.2260C>T c.(2260-2262)CGA>TGA p.R754* EFTUD1_uc002bgs.1_Nonsense_Mutation_p.R125*|EFTUD1_uc002bgu.1_Nonsense_Mutation_p.R703* NM_024580 NP_078856 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain 754 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity ovary(1) 1 GGCATGGCTCGAACACTGAGC 0.438 NA 7 75 0 0 0 0 SLC28A1 9154 broad.mit.edu 37 15 85447424 85447424 + Silent SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr15:85447424C>T uc002blg.2 + 7 760 c.558C>T c.(556-558)TGC>TGT p.C186C SLC28A1_uc010upd.1_Silent_p.C108C|SLC28A1_uc010bnb.2_Silent_p.C186C|SLC28A1_uc010upe.1_Silent_p.C186C|SLC28A1_uc010upf.1_Silent_p.C186C|SLC28A1_uc010upg.1_Silent_p.C186C NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 186 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) CAGGAATCTGCGTGTTCGTCG 0.597 NA 5 87 0 0 0 0 PLK1 5347 broad.mit.edu 37 16 23695252 23695252 + Missense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr16:23695252G>A uc002dlz.1 + 5 931 c.878G>A c.(877-879)CGC>CAC p.R293H NM_005030 NP_005021 P53350 PLK1_HUMAN polo-like kinase 1 293 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding lung(1)|skin(1) 2 GBM - Glioblastoma multiforme(48;0.0156) CCCACTGCCCGCCCAACCATT 0.547 NA 12 250 0 0 0 0 CNOT1 23019 broad.mit.edu 37 16 58583721 58583721 + Missense_Mutation SNP C C G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr16:58583721C>G uc002env.2 - 25 3717 c.3424G>C c.(3424-3426)GAG>CAG p.E1142Q CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.E1137Q|CNOT1_uc002enx.2_Missense_Mutation_p.E1142Q|CNOT1_uc002enz.1_Missense_Mutation_p.E571Q|CNOT1_uc010vik.1_Missense_Mutation_p.E138Q|SNORA46_uc002eny.1_5'Flank NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1142 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AAGTTTGGCTCAATACTGACT 0.393 NA 6 87 0 0 0 0 ZFHX3 463 broad.mit.edu 37 16 72828433 72828433 + Silent SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr16:72828433G>A uc002fck.2 - 9 8821 c.8148C>T c.(8146-8148)TGC>TGT p.C2716C ZFHX3_uc002fcl.2_Silent_p.C1802C NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 2716 C2H2-type 20. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) AGAGCGCTCTGCAAAAAGGGC 0.562 NA 17 65 0 0 0 0 SC65 10609 broad.mit.edu 37 17 39967445 39967445 + Missense_Mutation SNP T T C TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr17:39967445T>C uc002hxt.2 - 2 838 c.554A>G c.(553-555)TAT>TGT p.Y185C FKBP10_uc002hxv.2_5'Flank|SC65_uc002hxu.2_Missense_Mutation_p.Y276C NM_006455 NP_006446 Q92791 SC65_HUMAN synaptonemal complex protein SC65 185 synaptonemal complex assembly nucleolus|synaptonemal complex binding 0 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(366;0.149) CATCCCCTGATAGTAGTTGAG 0.647 NA 27 233 0 0 0 0 C18orf1 753 broad.mit.edu 37 18 13645527 13645527 + Silent SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr18:13645527C>T uc002ksa.2 + 7 1460 c.792C>T c.(790-792)GGC>GGT p.G264G C18orf1_uc002ksb.2_Silent_p.G246G|C18orf1_uc002kse.2_Silent_p.G227G|C18orf1_uc002ksf.2_Silent_p.G209G|C18orf1_uc002ksg.1_Silent_p.G187G|C18orf1_uc002ksh.1_Silent_p.G206G|C18orf1_uc002ksi.1_Silent_p.G188G NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 264 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) ACCACCCAGGCGCCTCTTTCC 0.597 NA 9 60 0 0 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559510 44559510 + Missense_Mutation SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr18:44559510C>T uc002lcr.1 - 1 2479 c.2126G>A c.(2125-2127)CGG>CAG p.R709Q KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 709 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 GGGGTTGGCCCGCTTCTCAGG 0.547 NA 5 62 0 0 0 0 LPHN1 22859 broad.mit.edu 37 19 14268749 14268749 + Missense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr19:14268749G>A uc010xnn.1 - 14 2791 c.2495C>T c.(2494-2496)ACG>ATG p.T832M LPHN1_uc010xno.1_Missense_Mutation_p.T827M|uc002myf.2_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 832 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 GCAGGCACACGTGGTATGGGT 0.597 NA 5 61 0 0 0 0 ZNF540 163255 broad.mit.edu 37 19 38102814 38102814 + Silent SNP T T C TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr19:38102814T>C uc002ogq.2 + 5 965 c.633T>C c.(631-633)GGT>GGC p.G211G ZNF540_uc002ogu.2_Silent_p.G211G|ZNF540_uc010efq.2_Silent_p.G179G NM_152606 NP_689819 Q8NDQ6 ZN540_HUMAN zinc finger protein 540 211 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTCATACTGGTGAAAAATCCT 0.338 NA 3 50 0 0 0 0 ANKRD36 375248 broad.mit.edu 37 2 97867947 97867947 + Missense_Mutation SNP C C G rs10203570 by1000genomes TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr2:97867947C>G uc010yva.1 + 47 3110 c.2866C>G c.(2866-2868)CAG>GAG p.Q956E ANKRD36_uc002sxp.3_RNA NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 956 0 AGTGTCTTCTCAGAAACCACC 0.343 NA 2 13 0 0 0 0 KIF3B 9371 broad.mit.edu 37 20 30897727 30897727 + Silent SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr20:30897727G>A uc002wxq.2 + 2 314 c.147G>A c.(145-147)ACG>ACA p.T49T KIF3B_uc010ztv.1_Silent_p.T49T|KIF3B_uc010ztw.1_Silent_p.T49T NM_004798 NP_004789 O15066 KIF3B_HUMAN kinesin family member 3B 49 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding central_nervous_system(3)|ovary(2) 5 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCAAAGGGACGGCCCATGAAA 0.512 NA 5 52 0 0 0 0 BPIL3 128859 broad.mit.edu 37 20 31622901 31622901 + Missense_Mutation SNP T T C TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr20:31622901T>C uc010zuc.1 + 5 467 c.467T>C c.(466-468)ATG>ACG p.M156T BPIL3_uc010zud.1_Missense_Mutation_p.M95T NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN bactericidal/permeability-increasing 156 extracellular region lipid binding ovary(1)|pancreas(1) 2 CTCCCCAAGATGGTCAACAAG 0.577 NA 11 52 0 0 0 0 TOMM34 10953 broad.mit.edu 37 20 43585027 43585027 + Missense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr20:43585027G>A uc002xmy.2 - 2 367 c.227C>T c.(226-228)TCA>TTA p.S76L PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA NM_006809 NP_006800 Q15785 TOM34_HUMAN translocase of outer mitochondrial membrane 34 76 TPR 2. protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane heat shock protein binding|signal sequence binding 0 Myeloproliferative disorder(115;0.0122) GGCCACTTACGAAGTGCAATC 0.468 NA 14 203 0 0 0 0 SYCP2 10388 broad.mit.edu 37 20 58471566 58471566 + Missense_Mutation SNP T T A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr20:58471566T>A uc002yaz.2 - 18 1561 c.1422A>T c.(1420-1422)AAA>AAT p.K474N NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 474 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) ACATTTTTCTTTTGCTAGGAG 0.318 NA 7 38 0 0 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072504 17072504 + Missense_Mutation SNP C C G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr22:17072504C>G uc002zlp.1 - 1 1197 c.937G>C c.(937-939)GTG>CTG p.V313L NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 313 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TGAATCACCACGATGCCATAC 0.557 NA 14 132 0 0 0 0 C22orf42 150297 broad.mit.edu 37 22 32548591 32548591 + Silent SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr22:32548591C>T uc003amd.2 - 3 371 c.330G>A c.(328-330)GCG>GCA p.A110A NM_001010859 NP_001010859 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 110 ovary(1)|skin(1) 2 CGTGTGCAGACGCCTGCACAT 0.493 NA 6 46 0 0 0 0 SLC6A6 6533 broad.mit.edu 37 3 14526472 14526472 + Missense_Mutation SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr3:14526472C>T uc010heg.2 + 22 2111 c.1820C>T c.(1819-1821)GCT>GTT p.A607V SLC6A6_uc003byq.2_Missense_Mutation_p.A607V|SLC6A6_uc003byr.2_RNA NM_001134367 NP_001127839 P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter 607 Cytoplasmic (Potential). cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity ovary(1) 1 ATGAACGGCGCTCTCGTGAAA 0.577 NA 3 22 0 0 0 0 GRM2 2912 broad.mit.edu 37 3 51743211 51743211 + Missense_Mutation SNP G G A rs144180122 by1000genomes TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr3:51743211G>A uc010hlv.2 + 2 451 c.212G>A c.(211-213)CGC>CAC p.R71H GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 71 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GCACTGGACCGCATCAACCGT 0.632 NA 8 89 0 0 0 0 SLC4A4 8671 broad.mit.edu 37 4 72412192 72412192 + Silent SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr4:72412192G>A uc003hfy.2 + 19 2685 c.2568G>A c.(2566-2568)AAG>AAA p.K856K SLC4A4_uc010iic.2_Silent_p.K856K|SLC4A4_uc010iib.2_Intron|SLC4A4_uc003hfz.2_Silent_p.K856K|SLC4A4_uc003hgc.3_Silent_p.K812K|SLC4A4_uc010iid.2_Silent_p.K60K NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 856 Extracellular (Potential). K -> R (in Ref. 4; AAG47773). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) ACAGTTTGAAGATGGAGACAG 0.483 NA 6 46 0 0 0 0 LRBA 987 broad.mit.edu 37 4 151509256 151509256 + Missense_Mutation SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr4:151509256C>T uc010ipj.2 - 41 6781 c.6307G>A c.(6307-6309)GAA>AAA p.E2103K LRBA_uc003ilt.3_Missense_Mutation_p.E751K|LRBA_uc003ilu.3_Missense_Mutation_p.E2092K NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 2103 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) AAATAGAGTTCGGAGGAGGTG 0.463 NA 10 91 0 0 0 0 SLC38A9 153129 broad.mit.edu 37 5 54922346 54922346 + Missense_Mutation SNP G G T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr5:54922346G>T uc003jqf.2 - 16 1863 c.1662C>A c.(1660-1662)AAC>AAA p.N554K SLC38A9_uc003jqd.2_Missense_Mutation_p.N491K|SLC38A9_uc010ivx.2_Missense_Mutation_p.N491K|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Missense_Mutation_p.N425K NM_173514 NP_775785 Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 554 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane 0 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) GAACAATCAGGTTAGCCACGC 0.368 NA 12 86 0.000978159 0.00124859 1 0 DDX4 54514 broad.mit.edu 37 5 55110956 55110956 + Missense_Mutation SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr5:55110956C>T uc003jqg.3 + 20 2017 c.1943C>T c.(1942-1944)TCG>TTG p.S648L DDX4_uc010ivz.2_Missense_Mutation_p.S628L|DDX4_uc003jqh.3_Missense_Mutation_p.S614L|DDX4_uc003jqj.2_Missense_Mutation_p.S499L NM_001136034 NP_001129506 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform 648 Helicase C-terminal. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|skin(1) 2 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) GATCTTGAATCGGATAACCAT 0.358 NA 6 104 0 0 0 0 HTR1A 3350 broad.mit.edu 37 5 63256816 63256816 + Missense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr5:63256816G>A uc011cqt.1 - 1 731 c.731C>T c.(730-732)GCA>GTA p.A244V NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 244 Cytoplasmic (By similarity). A -> AA (in Ref. 8). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GGCGGGAGATGCTCCATGGCG 0.632 NA 8 56 0 0 0 0 PCSK1 5122 broad.mit.edu 37 5 95746485 95746485 + Missense_Mutation SNP T T A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr5:95746485T>A uc003kls.1 - 8 1294 c.1088A>T c.(1087-1089)CAG>CTG p.Q363L PCSK1_uc010jbi.1_Intron NM_000439 NP_000430 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 363 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity ovary(2) 2 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TACGATTCTCTGGTCGGTGTA 0.512 NA 10 80 0 0 0 0 KDM3B 51780 broad.mit.edu 37 5 137727180 137727180 + Missense_Mutation SNP A A G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr5:137727180A>G uc003lcy.1 + 8 2059 c.1859A>G c.(1858-1860)AAT>AGT p.N620S KDM3B_uc010jew.1_Missense_Mutation_p.N276S|KDM3B_uc011cys.1_Intron NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 620 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 AATCATGAAAATCTATTTTTA 0.507 NA 13 104 0 0 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751490 140751490 + Missense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr5:140751490G>A uc003ljw.1 + 1 1529 c.1529G>A c.(1528-1530)CGG>CAG p.R510Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.R510Q|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 510 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGAGCGCGCGGAGCGGGGTG 0.667 NA 10 50 0 0 0 0 FAM193B 54540 broad.mit.edu 37 5 176951739 176951739 + Silent SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr5:176951739G>A uc003mhs.3 - 8 3233 c.1644C>T c.(1642-1644)AAC>AAT p.N548N FAM193B_uc003mhr.2_Silent_p.N85N|FAM193B_uc003mht.2_Silent_p.N207N|FAM193B_uc003mhu.2_Silent_p.N260N|FAM193B_uc003mhv.2_Silent_p.N207N|FAM193B_uc003mhw.2_RNA NM_019057 NP_061930 E9PET5 E9PET5_HUMAN hypothetical protein LOC54540 581 0 TCACGAGCCCGTTCTCGGGGA 0.652 NA 4 8 0 0 0 0 HIST1H2BM 8342 broad.mit.edu 37 6 27783137 27783137 + Missense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr6:27783137G>A uc003njo.2 + 1 316 c.316G>A c.(316-318)GAA>AAA p.E106K HIST1H2AJ_uc003njn.1_5'Flank NM_003521 NP_003512 Q99879 H2B1M_HUMAN histone cluster 1, H2bm 106 nucleosome assembly nucleosome|nucleus DNA binding large_intestine(1) 1 GCTACCCGGGGAATTGGCCAA 0.622 NA 7 60 0 0 0 0 TRIM27 5987 broad.mit.edu 37 6 28871857 28871857 + Missense_Mutation SNP G G C TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr6:28871857G>C uc003nlr.2 - 8 1891 c.1532C>G c.(1531-1533)ACC>AGC p.T511S TRIM27_uc003nls.2_3'UTR|TRIM27_uc003nlt.1_3'UTR NM_006510 NP_006501 P14373 TRI27_HUMAN ret finger protein 511 cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding ovary(1) 1 TCAAGGGGAGGTCTCCATGGA 0.537 NA T RET papillary thyroid 9 60 0 0 0 0 VARS2 57176 broad.mit.edu 37 6 30888896 30888896 + Nonsense_Mutation SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr6:30888896C>T uc003nsc.1 + 15 2166 c.1534C>T c.(1534-1536)CAG>TAG p.Q512* VARS2_uc011dmx.1_Nonsense_Mutation_p.Q512*|VARS2_uc011dmy.1_Nonsense_Mutation_p.Q372*|VARS2_uc011dmz.1_Nonsense_Mutation_p.Q542*|VARS2_uc011dna.1_Nonsense_Mutation_p.Q510*|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'UTR|VARS2_uc010jsg.1_5'UTR|VARS2_uc010jsh.1_5'Flank NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 512 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 GAAGAACTGGCAGCACTGGTT 0.557 NA 6 45 0 0 0 0 HLA-B 3106 broad.mit.edu 37 6 31324908 31324908 + Missense_Mutation SNP G G T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr6:31324908G>T uc003nth.2 - 1 82 c.28C>A c.(28-30)CTC>ATC p.L10I HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Missense_Mutation_p.L10I|HLA-B_uc003ntg.1_5'Flank|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_5'Flank NM_005514 NP_005505 P01889 1B07_HUMAN major histocompatibility complex, class I, B 10 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity 0 AGCAGCAGGAGGACGGTTCGG 0.697 NA Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of 4 10 0.000602214 0.00077786 1 0 SLC44A4 80736 broad.mit.edu 37 6 31832499 31832499 + Silent SNP C C A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr6:31832499C>A uc010jti.2 - 20 2007 c.1941G>T c.(1939-1941)GGG>GGT p.G647G NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank NM_025257 NP_079533 Q53GD3 CTL4_HUMAN choline transporter-like protein 4 647 Helical; (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 Choline(DB00122) TGACATAGGCCCCCAGGATGG 0.597 NA 7 79 8.13e-05 0.000108878 1 0 DNAH8 1769 broad.mit.edu 37 6 38840791 38840791 + Silent SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr6:38840791C>T uc003ooe.1 + 49 7296 c.6696C>T c.(6694-6696)CGC>CGT p.R2232R NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 ATGGAGATCGCATTCCCATGG 0.443 NA 12 82 0 0 0 0 KIAA0776 23376 broad.mit.edu 37 6 96971059 96971059 + Silent SNP T T C TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr6:96971059T>C uc003por.2 + 2 163 c.115T>C c.(115-117)TTG>CTG p.L39L KIAA0776_uc010kck.2_RNA NM_015323 NP_056138 O94874 UFL1_HUMAN hypothetical protein LOC23376 39 Required for E3 UFM1-protein ligase activity. negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity ovary(1) 1 all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0934) TGTTAATAAATTGATTGCTCA 0.368 NA 5 88 0 0 0 0 HEY2 23493 broad.mit.edu 37 6 126080842 126080842 + Missense_Mutation SNP T T G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr6:126080842T>G uc003qad.2 + 5 1099 c.908T>G c.(907-909)ATC>AGC p.I303S HEY2_uc011ebr.1_Missense_Mutation_p.I257S NM_012259 NP_036391 Q9UBP5 HEY2_HUMAN hairy/enhancer-of-split related with YRPW motif 303 negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) GCCACAGCCATCAGCCCGCCC 0.622 NA 10 106 0 0 0 0 FAM49B 51571 broad.mit.edu 37 8 130874554 130874554 + Missense_Mutation SNP C C G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr8:130874554C>G uc003yss.2 - 8 771 c.222G>C c.(220-222)AAG>AAC p.K74N FAM49B_uc003yst.2_Missense_Mutation_p.K74N|FAM49B_uc003ysu.2_Missense_Mutation_p.K74N|FAM49B_uc003ysv.2_Intron|FAM49B_uc003ysw.2_Missense_Mutation_p.K74N|FAM49B_uc003ysx.2_Missense_Mutation_p.K74N|FAM49B_uc003ysy.1_Missense_Mutation_p.K74N NM_016623 NP_057707 Q9NUQ9 FA49B_HUMAN hypothetical protein LOC51571 74 0 Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155) LUAD - Lung adenocarcinoma(14;0.0989) TCTCTTGCAACTTCTCATCTG 0.328 NA 8 87 0 0 0 0 PAX5 5079 broad.mit.edu 37 9 37015073 37015073 + Missense_Mutation SNP C C A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr9:37015073C>A uc003zzo.1 - 3 779 c.331G>T c.(331-333)GCC>TCC p.A111S PAX5_uc011lpw.1_Missense_Mutation_p.A111S|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_Missense_Mutation_p.A3S|PAX5_uc010mls.1_Missense_Mutation_p.A111S|PAX5_uc011lpz.1_Missense_Mutation_p.A111S|PAX5_uc011lqa.1_Missense_Mutation_p.A3S|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.A111S|PAX5_uc010mlp.1_Missense_Mutation_p.A111S|PAX5_uc011lqc.1_Missense_Mutation_p.A111S|PAX5_uc010mlr.1_Missense_Mutation_p.A111S|PAX5_uc011lqd.1_Intron|PAX5_uc011lqe.1_RNA|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_RNA NM_016734 NP_057953 Q02548 PAX5_HUMAN paired box 5 111 Paired. cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(32) PAX5/JAK2(18) haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2) 147 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) ATCTCCCAGGCAAACATGGTG 0.547 NA T|Mis|D|F|S IGH@|ETV6|PML|FOXP1|ZNF521|ELN NHL|ALL|B-ALL 8 179 0.00448238 0.0056551 1 0 KIAA1529 57653 broad.mit.edu 37 9 100127991 100127991 + Missense_Mutation SNP G G T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr9:100127991G>T uc011lut.1 + 42 5339 c.4566G>T c.(4564-4566)GAG>GAT p.E1522D KIAA1529_uc004axe.1_Missense_Mutation_p.E1328D|KIAA1529_uc004axg.1_Missense_Mutation_p.E1383D|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.E476D|MIR1302-8_hsa-mir-1302-8|MI0006369_5'Flank NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) TCCTCTGGGAGAGCAGTGAGA 0.562 NA 16 54 2e-07 2.78e-07 1 0 SCML1 6322 broad.mit.edu 37 X 17768243 17768243 + Missense_Mutation SNP C C G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chrX:17768243C>G uc004cyb.2 + 6 858 c.533C>G c.(532-534)ACT>AGT p.T178S SCML1_uc004cyc.2_Missense_Mutation_p.T151S|SCML1_uc004cyd.2_Missense_Mutation_p.T57S|SCML1_uc004cye.2_Missense_Mutation_p.T57S NM_001037540 NP_001032629 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 isoform a 178 anatomical structure morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1) 3 Hepatocellular(33;0.183) CTCAGCCGCACTCCGAGTCCA 0.522 NA 16 71 0 0 0 0 BRWD3 254065 broad.mit.edu 37 X 79932674 79932674 + Missense_Mutation SNP A A G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chrX:79932674A>G uc004edt.2 - 41 5106 c.4843T>C c.(4843-4845)TCT>CCT p.S1615P BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.S1211P|BRWD3_uc004edp.2_Missense_Mutation_p.S1444P|BRWD3_uc004edq.2_Missense_Mutation_p.S1211P|BRWD3_uc010nmj.1_Missense_Mutation_p.S1211P|BRWD3_uc004edr.2_Missense_Mutation_p.S1285P|BRWD3_uc004eds.2_Missense_Mutation_p.S1211P|BRWD3_uc004edu.2_Missense_Mutation_p.S1285P|BRWD3_uc004edv.2_Missense_Mutation_p.S1211P|BRWD3_uc004edw.2_Missense_Mutation_p.S1211P|BRWD3_uc004edx.2_Missense_Mutation_p.S1211P|BRWD3_uc004edy.2_Missense_Mutation_p.S1211P|BRWD3_uc004edz.2_Missense_Mutation_p.S1285P|BRWD3_uc004eea.2_Missense_Mutation_p.S1285P|BRWD3_uc004eeb.2_Missense_Mutation_p.S1211P|uc004edn.1_5'Flank NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1615 ovary(4) 4 GTACTTTCAGAACTTAAACTG 0.294 NA 5 136 0 0 0 0 PCDH11X 27328 broad.mit.edu 37 X 91132437 91132437 + Missense_Mutation SNP A A G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chrX:91132437A>G uc004efk.1 + 2 2043 c.1198A>G c.(1198-1200)ACA>GCA p.T400A PCDH11X_uc004efl.1_Missense_Mutation_p.T400A|PCDH11X_uc004efo.1_Missense_Mutation_p.T400A|PCDH11X_uc010nmv.1_Missense_Mutation_p.T400A|PCDH11X_uc004efm.1_Missense_Mutation_p.T400A|PCDH11X_uc004efn.1_Missense_Mutation_p.T400A|PCDH11X_uc004efh.1_Missense_Mutation_p.T400A|PCDH11X_uc004efj.1_Missense_Mutation_p.T400A NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 400 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 GACATGCTTCACAGATCATGA 0.418 NA 9 121 0 0 0 0 GPR112 139378 broad.mit.edu 37 X 135405364 135405364 + Missense_Mutation SNP T T A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chrX:135405364T>A uc004ezu.1 + 5 789 c.498T>A c.(496-498)AAT>AAA p.N166K GPR112_uc010nsb.1_Intron NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 166 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TTCTCAAGAATGAGAGCAGCG 0.448 NA 7 129 0 0 0 0 FLNA 2316 broad.mit.edu 37 X 153594747 153594747 + Missense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chrX:153594747G>A uc004fkk.2 - 8 1406 c.1157C>T c.(1156-1158)GCC>GTC p.A386V FLNA_uc010nuu.1_Missense_Mutation_p.A386V NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 386 Filamin 2. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGGACCTTGGGCTGTCACTTT 0.597 NA 7 58 0 0 0 0 ABCC3 8714 broad.mit.edu 37 17 48761081 48761082 + Frame_Shift_Del DEL GA GA - TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr17:48761081_48761082delGA uc002isl.2 + 27 3998_3999 c.3918_3919delGA c.(3916-3921)CTGAGAfs p.L1306fs ABCC3_uc002isn.2_Frame_Shift_Del_p.L60fs NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 1306_1307 Cytoplasmic (By similarity).|ABC transporter 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) ACCTGGTGCTGAGAGACCTGAG 0.644 NA 15 77 --- --- --- --- NA NA NA NA DNAH8 1769 broad.mit.edu 37 6 38816439 38816440 + Frame_Shift_Ins INS - - A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr6:38816439_38816440insA uc003ooe.1 + 35 5010_5011 c.4410_4411insA c.(4408-4413)TTTAAAfs p.F1470fs NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 ATGCTCCATTTAAAAAAAATAT 0.342 NA 7 31 --- --- --- --- NA NA NA NA AKAP9 10142 broad.mit.edu 37 7 91570433 91570435 + In_Frame_Del DEL AGA AGA - TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr7:91570433_91570435delAGA uc003ulg.2 + 1 245_247 c.20_22delAGA c.(19-24)CAGAAG>CAG p.K9del AKAP9_uc003uld.3_In_Frame_Del_p.K9del|AKAP9_uc003ule.2_In_Frame_Del_p.K9del|AKAP9_uc003ulf.2_In_Frame_Del_p.K9del NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 9 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GAGGAGAGACAGAAGAAGCTGGA 0.635 NA T BRAF papillary thyroid 12 108 --- --- --- --- NA NA NA NA