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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample TNFRSF1B 7133 broad.mit.edu 37 1 12253005 12253005 + Missense_Mutation SNP G G C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr1:12253005G>C uc001att.2 + 6 726 c.637G>C c.(637-639)GCA>CCA p.A213P TNFRSF1B_uc001atu.2_Missense_Mutation_p.A18P|TNFRSF1B_uc009vnk.2_RNA NM_001066 NP_001057 P20333 TNR1B_HUMAN tumor necrosis factor receptor 2 precursor 213 Extracellular (Potential). apoptosis extracellular region|integral to membrane|membrane raft|plasma membrane tumor necrosis factor receptor activity liver(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284) Etanercept(DB00005)|Infliximab(DB00065) GGCCCCAGGGGCAGTACACTT 0.617 NaN 0 0 0 0.069288 0 19 54 ACTL8 81569 broad.mit.edu 37 1 18152501 18152501 + Silent SNP C C G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr1:18152501C>G uc001bat.2 + 3 804 c.588C>G c.(586-588)CGC>CGG p.R196R NM_030812 NP_110439 Q9H568 ACTL8_HUMAN actin-like 8 196 cytoplasm|cytoskeleton ovary(4) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GCGATAGACGCTGCCTGTTTC 0.597 NaN OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.080935 0 11 63 RIMS3 9783 broad.mit.edu 37 1 41101634 41101634 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr1:41101634G>A uc001cfu.1 - 4 782 c.313C>T c.(313-315)CGG>TGG p.R105W RIMS3_uc001cfv.1_Missense_Mutation_p.R105W NM_014747 NP_055562 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 105 neurotransmitter transport cell junction|synapse 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) GTGGACTCCCGGCTGCCCTGG 0.682 NaN 0 0 0 0.038147 0 7 91 ELAVL4 1996 broad.mit.edu 37 1 50666658 50666658 + Silent SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr1:50666658T>C uc001csb.2 + 7 1219 c.951T>C c.(949-951)TTT>TTC p.F317F ELAVL4_uc001cry.3_Silent_p.F306F|ELAVL4_uc001crz.3_Silent_p.F303F|ELAVL4_uc001csa.3_Silent_p.F320F|ELAVL4_uc001csc.3_Silent_p.F303F|ELAVL4_uc010omz.1_Silent_p.F308F NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 317 RRM 3. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 GGCAGCTCTTTGGCCCCTTTG 0.507 NaN 0 0 0 0.050027 0 34 123 LHX8 431707 broad.mit.edu 37 1 75622760 75622760 + Missense_Mutation SNP T T A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr1:75622760T>A uc001dgo.2 + 9 1657 c.993T>A c.(991-993)GAT>GAA p.D331E LHX8_uc001dgq.2_Missense_Mutation_p.D270E NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 331 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 GTTATATGGATGGTAGGTATC 0.418 NaN 0 0 0 0.048971 0 57 58 HFM1 164045 broad.mit.edu 37 1 91739336 91739336 + Missense_Mutation SNP C C A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr1:91739336C>A uc001doa.3 - 34 3805 c.3705G>T c.(3703-3705)ATG>ATT p.M1235I HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.M914I|HFM1_uc001dob.3_Missense_Mutation_p.M423I|HFM1_uc010osv.1_Missense_Mutation_p.M919I NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 1235 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CCCACTGCTCCATTATAGGCA 0.308 NaN 1 0 2.31682e-05 0.024245 2.39517e-05 14 164 LPPR4 9890 broad.mit.edu 37 1 99772549 99772549 + Silent SNP C C A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr1:99772549C>A uc001dse.2 + 7 2381 c.2275C>A c.(2275-2277)CGG>AGG p.R759R LPPR4_uc010oue.1_Silent_p.R701R NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 759 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CTCCCCCACACGGGCTTATAA 0.458 NaN 1 0 3.82636e-28 0.048971 4.42617e-28 83 111 S1PR1 1901 broad.mit.edu 37 1 101704696 101704697 + Missense_Mutation DNP CA CA AT TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr1:101704696_101704697CA>AT uc001dud.2 + 2 670_671 c.156_157CA>AT c.(154-159)TTCATT>TTATTT p.52_53FI>LF S1PR1_uc009weg.2_Missense_Mutation_p.52_53FI>LF NM_001400 NP_001391 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 52_53 Helical; Name=1; (By similarity). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1) 3 CGGTGGTGTTCATTCTCATCTG 0.436 NaN OREG0013620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004672 0 55 107 GPR61 83873 broad.mit.edu 37 1 110085756 110085756 + Missense_Mutation SNP G G T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr1:110085756G>T uc001dxy.2 + 2 795 c.112G>T c.(112-114)GAT>TAT p.D38Y NM_031936 NP_114142 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 38 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(2) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) GGGGCTACGGGATGTTGCTTC 0.612 NaN 1 0 1.39806e-14 0.037714 1.52645e-14 32 206 BGLAP 632 broad.mit.edu 37 1 156212941 156212941 + Nonsense_Mutation SNP C C A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr1:156212941C>A uc001fnt.2 + 4 363 c.291C>A c.(289-291)TAC>TAA p.Y97* BGLAP_uc001fns.1_3'UTR NM_199173 NP_954642 P02818 OSTCN_HUMAN osteocalcin preproprotein 97 Gla. bone mineralization|cell adhesion|odontogenesis|regulation of bone mineralization|regulation of bone resorption|regulation of osteoclast differentiation calcium ion binding|hydroxyapatite binding|structural constituent of bone 0 Hepatocellular(266;0.158) Phytonadione(DB01022) GGCGCTTCTACGGCCCGGTCT 0.637 NaN 1 0 8.72198e-27 0.048971 1.0035e-26 48 143 SPTA1 6708 broad.mit.edu 37 1 158631163 158631163 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr1:158631163C>T uc001fst.1 - 18 2700 c.2501G>A c.(2500-2502)AGG>AAG p.R834K NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 834 Spectrin 9. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GACTCTATGCCTATTCAGAAG 0.423 NaN 0 0 0 0.074837 0 36 140 OR6K2 81448 broad.mit.edu 37 1 158670235 158670236 + Nonsense_Mutation DNP CC CC AG TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr1:158670235_158670236CC>AG uc001fsu.1 - 1 207_208 c.207_208GG>CT c.(205-210)CTGGAG>CTCTAG p.E70* NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 70 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TACCAAATCTCCAGGAAAGAAA 0.436 NaN 0 0 0 0.004672 0 11 62 OR6N1 128372 broad.mit.edu 37 1 158736303 158736303 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr1:158736303G>A uc010piq.1 - 1 170 c.170C>T c.(169-171)ACA>ATA p.T57I NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 57 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GTACATGGGTGTGTGAAGCCG 0.483 NaN 0 0 0 0.034045 0 29 98 MR1 3140 broad.mit.edu 37 1 181018369 181018369 + Silent SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr1:181018369G>A uc001goq.1 + 2 254 c.249G>A c.(247-249)AGG>AGA p.R83R MR1_uc001gop.2_Silent_p.R83R|MR1_uc001gor.1_Silent_p.R83R|MR1_uc001gos.1_Silent_p.R83R|MR1_uc010pns.1_Silent_p.R83R NM_001531 NP_001522 Q95460 HMR1_HUMAN major histocompatibility complex, class 83 Extracellular (Potential).|Ligand-binding.|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|immune response endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex MHC class I receptor activity skin(1) 1 ACTGGGAGAGGTACACTCAGC 0.582 NaN 0 0 0 0.105934 0 14 47 CACNA1E 777 broad.mit.edu 37 1 181725138 181725138 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr1:181725138C>T uc001gow.2 + 29 4201 c.4036C>T c.(4036-4038)CGG>TGG p.R1346W CACNA1E_uc009wxs.2_Missense_Mutation_p.R1234W|CACNA1E_uc001gox.1_Missense_Mutation_p.R572W|CACNA1E_uc009wxt.2_Missense_Mutation_p.R572W NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1346 Extracellular (Potential).|III. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GGTGAAGGGCCGGGAATGGAA 0.493 NaN 0 0 0 0.09319 0 11 51 TROVE2 6738 broad.mit.edu 37 1 193038543 193038543 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr1:193038543G>A uc001gss.2 + 2 534 c.359G>A c.(358-360)CGC>CAC p.R120H TROVE2_uc001gst.1_Intron|TROVE2_uc001gsu.1_Intron|TROVE2_uc001gsv.1_Missense_Mutation_p.R120H|TROVE2_uc001gsw.2_Missense_Mutation_p.R120H|TROVE2_uc009wyp.2_Missense_Mutation_p.R120H|TROVE2_uc009wyq.2_Missense_Mutation_p.R120H|TROVE2_uc001gsx.1_Missense_Mutation_p.R120H NM_004600 NP_004591 P10155 RO60_HUMAN TROVE domain family, member 2 isoform 2 120 TROVE. transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex protein binding|RNA binding 0 GAAGTTTGTCGCATTCCTACC 0.448 NaN 0 0 0 0.099896 0 26 66 CFH 3075 broad.mit.edu 37 1 196658607 196658607 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr1:196658607G>A uc001gtj.3 + 8 1262 c.1022G>A c.(1021-1023)CGT>CAT p.R341H CFH_uc001gti.3_Missense_Mutation_p.R341H|CFH_uc009wyw.2_Intron|CFH_uc009wyx.2_Missense_Mutation_p.R277H NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 341 Sushi 6. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 GAGAATATGCGTAGACCATAC 0.323 NaN 0 0 0 0.062417 0 20 86 MFSD4 148808 broad.mit.edu 37 1 205538365 205538365 + Silent SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr1:205538365C>T uc001hcv.3 + 1 254 c.168C>T c.(166-168)GTC>GTT p.V56V MFSD4_uc010prk.1_Silent_p.V56V|MFSD4_uc010prl.1_RNA NM_181644 NP_857595 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 56 Helical; (Potential). transmembrane transport integral to membrane skin(2)|central_nervous_system(1) 3 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) TCTCCTGGGTCTTCTTCTCGC 0.602 NaN 0 0 0 0.038147 0 6 14 RBM17 84991 broad.mit.edu 37 10 6155497 6155497 + Missense_Mutation SNP C C G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr10:6155497C>G uc001ijb.2 + 9 1109 c.883C>G c.(883-885)CCG>GCG p.P295A RBM17_uc010qav.1_Missense_Mutation_p.P295A|RBM17_uc001ijc.2_5'Flank NM_032905 NP_116294 Q96I25 SPF45_HUMAN RNA binding motif protein 17 295 mRNA processing|RNA splicing spliceosomal complex nucleotide binding|protein binding|RNA binding 0 AGATTCAAATCCGCTGACTGA 0.408 NaN 0 0 0 0.104719 0 40 144 ITGA8 8516 broad.mit.edu 37 10 15600156 15600156 + Nonsense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr10:15600156G>A uc001ioc.1 - 26 2683 c.2683C>T c.(2683-2685)CGA>TGA p.R895* ITGA8_uc010qcb.1_Nonsense_Mutation_p.R880* NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 895 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity p.R895Q(1) ovary(3)|lung(3) 6 GTAGAGTTTCGCAAAAAGGCG 0.473 NaN 0 0 0 0.028581 0 16 109 ITGA8 8516 broad.mit.edu 37 10 15760853 15760853 + Silent SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr10:15760853G>A uc001ioc.1 - 2 255 c.255C>T c.(253-255)CCC>CCT p.P85P ITGA8_uc010qcb.1_Silent_p.P85P NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 85 Extracellular (Potential).|FG-GAP 1. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 CCACGATATCGGGCTGGCTGG 0.582 NaN 0 0 0 0.080422 0 35 114 C10orf140 387640 broad.mit.edu 37 10 21804178 21804178 + Silent SNP A A T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr10:21804178A>T uc009xkd.2 - 4 4827 c.2574T>A c.(2572-2574)ATT>ATA p.I858I uc001iqp.1_Intron NM_207371 NP_997254 Q1XH10 DLN1_HUMAN hypothetical protein LOC387640 777 nucleus nucleotide binding ovary(1) 1 CATCTCTCCCAATAATGAGTG 0.453 NaN 0 0 0 0.0333 0 18 54 CSGALNACT2 55454 broad.mit.edu 37 10 43662480 43662480 + Silent SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr10:43662480C>T uc001jan.2 + 6 1523 c.1188C>T c.(1186-1188)TTC>TTT p.F396F NM_018590 NP_061060 Q8N6G5 CGAT2_HUMAN chondroitin sulfate 396 Lumenal (Potential). chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding ovary(1) 1 CTGTGGTGTTCAGTCTTTACA 0.373 NaN 0 0 0 0.038395 0 19 44 FAM21C 253725 broad.mit.edu 37 10 46245583 46245583 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr10:46245583G>A uc001jcu.2 + 9 871 c.772G>A c.(772-774)GGC>AGC p.G258S FAM21C_uc001jcs.1_Missense_Mutation_p.G203S|FAM21C_uc001jct.2_Missense_Mutation_p.G258S|FAM21C_uc010qfi.1_Missense_Mutation_p.G258S NM_015262 NP_056077 A8K5W5 A8K5W5_HUMAN hypothetical protein LOC253725 258 ovary(1) 1 GGATGATGATGGCTGTGACCT 0.388 NaN 0 0 0 0.099896 0 24 117 ANK3 288 broad.mit.edu 37 10 61829047 61829047 + Silent SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr10:61829047T>C uc001jky.2 - 37 11784 c.11592A>G c.(11590-11592)AAA>AAG p.K3864K ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 3864 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TTATGGGAAGTTTGGATTTTT 0.398 NaN 0 0 0 0.048971 0 108 328 COL13A1 1305 broad.mit.edu 37 10 71677085 71677085 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr10:71677085C>T uc001jpr.1 + 17 1528 c.992C>T c.(991-993)GCC>GTC p.A331V COL13A1_uc001jqj.1_Missense_Mutation_p.A331V|COL13A1_uc001jps.1_Missense_Mutation_p.A302V|COL13A1_uc001jpt.1_Missense_Mutation_p.A290V|COL13A1_uc001jpu.1_Missense_Mutation_p.A312V|COL13A1_uc001jpv.1_Missense_Mutation_p.A331V|COL13A1_uc001jpx.1_Missense_Mutation_p.A309V|COL13A1_uc001jpw.1_Missense_Mutation_p.A278V|COL13A1_uc001jpy.1_Missense_Mutation_p.A269V|COL13A1_uc001jpz.1_Missense_Mutation_p.A274V|COL13A1_uc001jqa.1_Missense_Mutation_p.A271V|COL13A1_uc001jqc.1_Missense_Mutation_p.A331V|COL13A1_uc001jqb.1_Missense_Mutation_p.A280V|COL13A1_uc001jql.2_Missense_Mutation_p.A331V|COL13A1_uc001jqd.1_Missense_Mutation_p.A319V|COL13A1_uc001jqe.1_Missense_Mutation_p.A314V|COL13A1_uc001jqf.1_Missense_Mutation_p.A312V|COL13A1_uc001jqg.1_Missense_Mutation_p.A309V|COL13A1_uc001jqh.1_Missense_Mutation_p.A331V|COL13A1_uc001jqi.1_Missense_Mutation_p.A331V|COL13A1_uc010qjf.1_Missense_Mutation_p.A121V|COL13A1_uc001jqk.1_Missense_Mutation_p.A169V NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 331 Extracellular (Potential).|Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) AAGCATGGAGCCAAGGTACCT 0.637 NaN 0 0 0 0.038147 0 8 46 PAOX 196743 broad.mit.edu 37 10 135203207 135203207 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr10:135203207G>A uc001lmv.2 + 6 1428 c.1348G>A c.(1348-1350)GAC>AAC p.D450N PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Intron|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA NM_152911 NP_690875 Q6QHF9 PAOX_HUMAN polyamine oxidase isoform 1 588 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) GGGCGACCTGGACCTGCTGGC 0.741 NaN 0 0 0 0.028581 0 14 44 NELL1 4745 broad.mit.edu 37 11 21592405 21592405 + Silent SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr11:21592405T>C uc001mqe.2 + 18 2229 c.2076T>C c.(2074-2076)AGT>AGC p.S692S NELL1_uc001mqf.2_Silent_p.S645S|NELL1_uc009yid.2_Silent_p.S720S|NELL1_uc010rdo.1_Silent_p.S635S|NELL1_uc010rdp.1_Silent_p.S405S|NELL1_uc001mqh.2_Silent_p.S237S NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 692 VWFC 4. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 GAGTCACAAGTCAATGTTTAG 0.468 NaN 0 0 0 0.11126 0 38 138 CCDC73 493860 broad.mit.edu 37 11 32635179 32635179 + Silent SNP A A G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr11:32635179A>G uc001mtv.2 - 16 2729 c.2685T>C c.(2683-2685)ACT>ACC p.T895T NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 895 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) GAGTTTTCTCAGTTTTTTTAT 0.398 NaN 0 0 0 0.048971 0 72 227 HIPK3 10114 broad.mit.edu 37 11 33360345 33360345 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr11:33360345G>A uc001mul.1 + 5 1654 c.1384G>A c.(1384-1386)GAA>AAA p.E462K HIPK3_uc001mum.1_Missense_Mutation_p.E462K|HIPK3_uc009yjv.1_Missense_Mutation_p.E462K|HIPK3_uc009yjw.1_RNA NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 462 Protein kinase. anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 GAAGTCTAAAGAAGCCAGAAA 0.358 NaN 0 0 0 0.045705 0 32 99 TRIM48 79097 broad.mit.edu 37 11 55036744 55036744 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr11:55036744C>T uc010rid.1 + 5 691 c.605C>T c.(604-606)CCC>CTC p.P202L NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN tripartite motif-containing 48 186 intracellular zinc ion binding 0 CTGCACATGCCCCAGCCTCTG 0.502 NaN 0 0 0 0.086207 0 35 74 OR5M9 390162 broad.mit.edu 37 11 56230095 56230095 + Silent SNP G G T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr11:56230095G>T uc010rjj.1 - 1 783 c.783C>A c.(781-783)CCC>CCA p.P261P NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) ATTCCTCAGTGGGTCTCCTGA 0.493 NaN 1 0 2.46105e-21 0.045705 2.80141e-21 33 79 OR9G4 283189 broad.mit.edu 37 11 56510738 56510738 + Missense_Mutation SNP A A G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr11:56510738A>G uc010rjo.1 - 1 550 c.550T>C c.(550-552)TGT>CGT p.C184R NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 TTTTTACCACAAAAATGCAGG 0.453 NaN 0 0 0 0.104719 0 42 72 OR4D6 219983 broad.mit.edu 37 11 59224536 59224536 + Missense_Mutation SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr11:59224536T>C uc010rku.1 + 1 103 c.103T>C c.(103-105)TAT>CAT p.Y35H NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 35 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTTTGCTGTGTATGTAGCAAC 0.458 NaN 0 0 0 0.048971 0 47 123 SUV420H1 51111 broad.mit.edu 37 11 67942531 67942531 + Missense_Mutation SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr11:67942531T>C uc001onm.1 - 5 753 c.497A>G c.(496-498)TAT>TGT p.Y166C SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.Y166C|SUV420H1_uc001onp.2_Missense_Mutation_p.Y166C|SUV420H1_uc010rqa.1_Missense_Mutation_p.Y143C|SUV420H1_uc001onq.2_Missense_Mutation_p.Y166C NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 GTTGAGAAAATAGTGCCGTGC 0.348 NaN 0 0 0 0.099896 0 23 48 ARAP1 116985 broad.mit.edu 37 11 72412744 72412744 + Missense_Mutation SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr11:72412744T>C uc001osu.2 - 16 2441 c.2252A>G c.(2251-2253)TAC>TGC p.Y751C ARAP1_uc001osv.2_Missense_Mutation_p.Y751C|ARAP1_uc001osr.2_Missense_Mutation_p.Y511C|ARAP1_uc001oss.2_Missense_Mutation_p.Y506C|ARAP1_uc009yth.2_Missense_Mutation_p.Y445C|ARAP1_uc010rre.1_Missense_Mutation_p.Y506C|ARAP1_uc001osw.1_Missense_Mutation_p.Y39C NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 751 PH 3. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 GGCAGTCTTGTAGAGGAAGCC 0.622 NaN 0 0 0 0.048971 0 48 143 CNTN5 53942 broad.mit.edu 37 11 99941209 99941209 + Missense_Mutation SNP C C A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr11:99941209C>A uc001pga.2 + 11 1555 c.1216C>A c.(1216-1218)CCT>ACT p.P406T CNTN5_uc009ywv.1_Missense_Mutation_p.P406T|CNTN5_uc001pfz.2_Missense_Mutation_p.P406T|CNTN5_uc001pgb.2_Missense_Mutation_p.P332T NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 406 Ig-like C2-type 4. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CAGTGGGAGCCCTCTCCGATG 0.463 NaN 1 0 3.45872e-05 0.028581 3.55849e-05 16 18 RAD52 5893 broad.mit.edu 37 12 1034684 1034684 + Missense_Mutation SNP C C A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr12:1034684C>A uc001qis.1 - 7 589 c.475G>T c.(475-477)GGG>TGG p.G159W RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Missense_Mutation_p.G82W|RAD52_uc001qiu.1_Missense_Mutation_p.G159W|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA|RAD52_uc010sdu.1_Missense_Mutation_p.G159W|RAD52_uc001qix.1_Missense_Mutation_p.W209L NM_134424 NP_602296 P43351 RAD52_HUMAN RAD52 homolog 159 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1) 1 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) AGTGCATTCCCAAAACTCCTA 0.388 NaN Homologous_recombination 1 0 5.35267e-07 0.043863 5.56054e-07 18 96 SLC2A3 6515 broad.mit.edu 37 12 8083900 8083900 + Silent SNP G G T rs138143062 TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr12:8083900G>T uc001qtr.2 - 4 713 c.451C>A c.(451-453)CGG>AGG p.R151R SLC2A3_uc001qts.2_Silent_p.R151R NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 151 Cytoplasmic (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) AAGGCACCCCGCAGGGCAGTA 0.507 NaN 1 0 2.26627e-22 0.09836 2.59349e-22 41 93 NELL2 4753 broad.mit.edu 37 12 45269642 45269642 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr12:45269642C>T uc001rog.2 - 1 606 c.11G>A c.(10-12)CGG>CAG p.R4Q NELL2_uc001rof.3_5'Flank|NELL2_uc001roh.2_Missense_Mutation_p.R4Q|NELL2_uc009zkd.2_5'UTR|NELL2_uc010skz.1_Missense_Mutation_p.R54Q|NELL2_uc010sla.1_Missense_Mutation_p.R27Q|NELL2_uc001roi.1_Missense_Mutation_p.R4Q|NELL2_uc010slb.1_5'UTR|NELL2_uc001roj.2_Missense_Mutation_p.R4Q NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 4 cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CAGTAAGACCCGAGACTCCAT 0.517 NaN 0 0 0 0.043863 0 18 99 LRP1 4035 broad.mit.edu 37 12 57600372 57600372 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr12:57600372G>A uc001snd.2 + 76 12173 c.11707G>A c.(11707-11709)GAT>AAT p.D3903N NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 3903 Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGTCCGCATTGATGCTATGGA 0.597 NaN 0 0 0 0.059317 0 35 45 C12orf12 196477 broad.mit.edu 37 12 91347836 91347836 + Silent SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr12:91347836G>A uc001tbj.2 - 1 1118 c.684C>T c.(682-684)GCC>GCT p.A228A NM_152638 NP_689851 Q8TC90 CL012_HUMAN hypothetical protein LOC196477 228 central_nervous_system(1)|pancreas(1) 2 CGGAGGATCTGGCTGGGGAGG 0.627 NaN 0 0 0 0.048971 0 94 152 PWP1 11137 broad.mit.edu 37 12 108082471 108082471 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr12:108082471C>T uc001tmo.1 + 3 298 c.211C>T c.(211-213)CGC>TGC p.R71C PWP1_uc001tmn.1_RNA|PWP1_uc009zuu.1_Missense_Mutation_p.R71C NM_007062 NP_008993 Q13610 PWP1_HUMAN periodic tryptophan protein 1 71 transcription, DNA-dependent nucleus 0 CACCCAGGCACGCCCAAGAGA 0.517 NaN 0 0 0 0.050027 0 35 36 CAMKK2 10645 broad.mit.edu 37 12 121706440 121706440 + Splice_Site SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr12:121706440C>T uc001tzu.2 - 5 749 c.625_splice c.e5+1 p.R209_splice CAMKK2_uc001tzt.2_Splice_Site_p.R209_splice|CAMKK2_uc001tzv.2_Splice_Site_p.R209_splice|CAMKK2_uc001tzw.2_Splice_Site_p.R209_splice|CAMKK2_uc001tzx.2_Splice_Site_p.R209_splice|CAMKK2_uc001tzy.2_Splice_Site_p.R209_splice|CAMKK2_uc001uaa.1_Splice_Site_p.R209_splice|CAMKK2_uc001uab.2_Splice_Site_p.R209_splice|CAMKK2_uc001uac.2_Splice_Site_p.R209_splice NM_006549 NP_006540 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity lung(1)|large_intestine(1)|stomach(1) 3 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GCCAAACTCACGTGGAAAGCC 0.488 NaN 0 0 0 0.048971 0 70 219 SACS 26278 broad.mit.edu 37 13 23909550 23909550 + Missense_Mutation SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr13:23909550T>C uc001uon.2 - 10 9054 c.8465A>G c.(8464-8466)AAT>AGT p.N2822S SACS_uc001uoo.2_Missense_Mutation_p.N2675S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2822 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) GCCTGATCTATTACAAATTAG 0.388 NaN 0 0 0 0.069288 0 22 154 ATP8A2 51761 broad.mit.edu 37 13 26273338 26273338 + Missense_Mutation SNP T T A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr13:26273338T>A uc001uqk.2 + 25 2381 c.2239T>A c.(2239-2241)TGC>AGC p.C747S ATP8A2_uc010tdi.1_Missense_Mutation_p.C707S|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.C297S NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 707 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TACTCAGCACTGCACTGACCT 0.453 NaN 0 0 0 0.048971 0 49 73 SLC7A1 6541 broad.mit.edu 37 13 30110084 30110084 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr13:30110084C>T uc001uso.2 - 3 629 c.242G>A c.(241-243)GGC>GAC p.G81D NM_003045 NP_003036 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid 81 Helical; (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity 0 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) ATAGCACAGGCCAGCCAGCAC 0.617 NaN 0 0 0 0.038395 0 14 57 HTR2A 3356 broad.mit.edu 37 13 47469988 47469988 + Silent SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr13:47469988T>C uc001vbq.2 - 1 188 c.54A>G c.(52-54)CTA>CTG p.L18L HTR2A_uc001vbr.2_Intron|HTR2A_uc010acr.2_Silent_p.L18L NM_000621 NP_000612 P28223 5HT2A_HUMAN 5-hydroxytryptamine receptor 2A isoform 1 18 Extracellular (By similarity). ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TTAATTGCATTAGGGAGTTCG 0.403 NaN 0 0 0 0.043863 0 17 92 RB1 5925 broad.mit.edu 37 13 48947629 48947629 + Splice_Site SNP G G C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr13:48947629G>C uc001vcb.2 + 12 1381 c.1215_splice c.e12+1 p.N405_splice RB1_uc010act.1_Splice_Site_p.N106_splice NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(14) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTATTTTAACGTAAGCCATAT 0.264 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 0 0 0 0.0918 0 24 189 UTP14C 9724 broad.mit.edu 37 13 52604079 52604079 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr13:52604079G>A uc001vgb.2 + 2 1674 c.1139G>A c.(1138-1140)AGT>AAT p.S380N UTP14C_uc001vgc.2_RNA NM_021645 NP_067677 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 380 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome ovary(3)|large_intestine(1)|breast(1) 5 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) AGCTGCACCAGTGACACCAAA 0.537 NaN 0 0 0 0.080422 0 40 61 TDRD3 81550 broad.mit.edu 37 13 61041463 61041463 + Missense_Mutation SNP G G T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr13:61041463G>T uc001via.2 + 5 954 c.166G>T c.(166-168)GTT>TTT p.V56F TDRD3_uc010aef.2_5'UTR|TDRD3_uc001vhz.3_Missense_Mutation_p.V56F|TDRD3_uc010aeg.2_Missense_Mutation_p.V149F|TDRD3_uc001vib.3_Missense_Mutation_p.V56F NM_030794 NP_110421 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 isoform 2 56 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity upper_aerodigestive_tract(1)|skin(1) 2 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) TAACACCACAGTTCTTGGTGG 0.383 NaN 1 0 1.79293e-35 0.048971 2.11982e-35 70 107 PCDH9 5101 broad.mit.edu 37 13 67799771 67799771 + Silent SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr13:67799771G>A uc001vik.2 - 2 3494 c.2802C>T c.(2800-2802)GAC>GAT p.D934D PCDH9_uc001vil.2_Silent_p.D934D|PCDH9_uc010thl.1_Silent_p.D934D|PCDH9_uc001vin.3_Silent_p.D934D NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 934 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GCTTGGCCAGGTCAGGACTGT 0.507 NaN 0 0 0 0.069288 0 19 176 OR4N5 390437 broad.mit.edu 37 14 20612221 20612221 + Silent SNP G G T rs138565527 TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr14:20612221G>T uc010tla.1 + 1 327 c.327G>T c.(325-327)GCG>GCT p.A109A NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TTCTTGGAGCGGGAGAGATGT 0.488 NaN 1 0 1.21826e-31 0.048971 1.41689e-31 84 220 SALL2 6297 broad.mit.edu 37 14 21992660 21992660 + Missense_Mutation SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr14:21992660T>C uc001wbe.2 - 2 1484 c.1202A>G c.(1201-1203)TAT>TGT p.Y401C SALL2_uc010tly.1_Missense_Mutation_p.Y399C|SALL2_uc010tlz.1_Missense_Mutation_p.Y264C|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.Y266C|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN sal-like 2 401 C2H2-type 2. DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|large_intestine(1) 3 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) ATTGCACTTATAGGGCCTCTC 0.532 NaN 0 0 0 0.030593 0 28 103 HECTD1 25831 broad.mit.edu 37 14 31637558 31637558 + Missense_Mutation SNP C C A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr14:31637558C>A uc001wrc.1 - 10 2057 c.1568G>T c.(1567-1569)AGG>ATG p.R523M HECTD1_uc001wrd.1_Missense_Mutation_p.R38M NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 523 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TGGCAATAACCTTTTCAAGTA 0.338 NaN 1 0 3.71514e-35 0.048971 4.36835e-35 83 274 CLEC14A 161198 broad.mit.edu 37 14 38724033 38724033 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr14:38724033C>T uc001wum.1 - 1 1542 c.1195G>A c.(1195-1197)GTC>ATC p.V399I NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 399 Helical; (Potential). integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) AATATGAAGACCACGGCAGAG 0.507 NaN 0 0 0 0.024245 0 12 49 ABCD4 5826 broad.mit.edu 37 14 74756769 74756769 + Silent SNP T T A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr14:74756769T>A uc001xpr.2 - 13 1532 c.1380A>T c.(1378-1380)CCA>CCT p.P460P ABCD4_uc001xps.2_Silent_p.P301P|ABCD4_uc001xpt.2_Silent_p.P301P|ABCD4_uc010tur.1_Silent_p.P356P NM_005050 NP_005041 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D, member 4 460 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00153) ATGGCTTTTGTGGCAGGAATA 0.597 NaN OREG0022800 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.048971 0 50 71 LTBP2 4053 broad.mit.edu 37 14 74988700 74988700 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr14:74988700C>T uc001xqa.2 - 17 3089 c.2702G>A c.(2701-2703)CGC>CAC p.R901H NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 901 EGF-like 5; calcium-binding (Potential).|Cys-rich. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GTTGATGCAGCGCCCTTTTCC 0.627 NaN 0 0 0 0.014758 0 5 57 HERC2 8924 broad.mit.edu 37 15 28421740 28421741 + Missense_Mutation DNP CC CC AA TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr15:28421740_28421741CC>AA uc001zbj.2 - 63 9625_9626 c.9519_9520GG>TT c.(9517-9522)TTGGTA>TTTTTA p.3173_3174LV>FL NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3173_3174 RCC1 10. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CAGGAAAATACCAAACCTAGGT 0.495 NaN 0 0 0 0.004672 0 73 191 TMEM62 80021 broad.mit.edu 37 15 43427845 43427845 + Missense_Mutation SNP A A G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr15:43427845A>G uc001zqr.2 + 3 707 c.428A>G c.(427-429)CAT>CGT p.H143R TMEM62_uc010bda.2_Missense_Mutation_p.H13R NM_024956 NP_079232 Q0P6H9 TMM62_HUMAN transmembrane protein 62 143 integral to membrane ovary(1)|breast(1) 2 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) AAAGGAAATCATGGTAAGAGC 0.408 NaN 0 0 0 0.014758 0 4 34 CHRNA3 1136 broad.mit.edu 37 15 78893669 78893669 + Missense_Mutation SNP G G T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr15:78893669G>T uc002bec.2 - 5 1501 c.1315C>A c.(1315-1317)CCA>ACA p.P439T CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.P439T NM_000743 NP_000734 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 439 Cytoplasmic (Potential). activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|ovary(1) 4 TTGATTTCTGGTGACAAAGCA 0.408 NaN 1 0 2.79145e-41 0.048971 3.31872e-41 65 148 BNC1 646 broad.mit.edu 37 15 83935803 83935803 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr15:83935803G>A uc002bjt.1 - 3 308 c.220C>T c.(220-222)CCC>TCC p.P74S BNC1_uc010uos.1_Missense_Mutation_p.P62S NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 74 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TACATGGGGGGGATCCTTAGC 0.423 NaN 0 0 0 0.038395 0 18 43 FAM169B 283777 broad.mit.edu 37 15 99023900 99023900 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr15:99023900G>A uc002buk.1 - 4 363 c.113C>T c.(112-114)TCT>TTT p.S38F NM_182562 NP_872368 Q8N8A8 F169B_HUMAN hypothetical protein LOC283777 38 0 TTCCTTCACAGAGTGAGGTAG 0.443 NaN 0 0 0 0.042209 0 42 60 TTC23 64927 broad.mit.edu 37 15 99715294 99715294 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr15:99715294C>T uc002bur.2 - 9 1357 c.826G>A c.(826-828)GCC>ACC p.A276T TTC23_uc002bus.2_Missense_Mutation_p.A276T|TTC23_uc002but.2_Missense_Mutation_p.A276T|TTC23_uc002buu.2_Missense_Mutation_p.A276T|TTC23_uc002buv.2_Missense_Mutation_p.A276T|TTC23_uc002bux.2_Missense_Mutation_p.A276T|TTC23_uc002buw.2_Missense_Mutation_p.A276T|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Missense_Mutation_p.A276T|TTC23_uc010bor.2_Missense_Mutation_p.A276T|TTC23_uc002buz.2_Missense_Mutation_p.A276T NM_022905 NP_075056 Q5W5X9 TTC23_HUMAN tetratricopeptide repeat domain 23 276 binding 0 all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215) GCAGCATGGGCGACGATGTGT 0.512 NaN 0 0 0 0.037714 0 27 53 LASS3 204219 broad.mit.edu 37 15 101041925 101041925 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr15:101041925G>A uc002bvz.2 - 4 632 c.130C>T c.(130-132)CCA>TCA p.P44S LASS3_uc002bwa.2_Missense_Mutation_p.P55S|LASS3_uc002bwb.2_Missense_Mutation_p.P44S NM_178842 NP_849164 Q8IU89 CERS3_HUMAN LAG1 longevity assurance homolog 3 44 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) AAAGCATATGGAATTGTCACG 0.393 NaN 0 0 0 0.047766 0 8 72 DNAH3 55567 broad.mit.edu 37 16 20966209 20966209 + Missense_Mutation SNP A A G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr16:20966209A>G uc010vbe.1 - 55 10997 c.10997T>C c.(10996-10998)ATG>ACG p.M3666T DNAH3_uc010vbd.1_Missense_Mutation_p.M1101T NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3666 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CTTTTGCCACATCACCGCCTT 0.527 NaN 0 0 0 0.048971 0 64 172 DNAH3 55567 broad.mit.edu 37 16 21117941 21117941 + Missense_Mutation SNP G G T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr16:21117941G>T uc010vbe.1 - 15 2154 c.2154C>A c.(2152-2154)AAC>AAA p.N718K DNAH3_uc002die.2_Missense_Mutation_p.N658K NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 718 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GCTCCTTAGTGTTGGCAGGAA 0.403 NaN 1 0 7.26314e-15 0.034045 7.97083e-15 27 72 IL21R 50615 broad.mit.edu 37 16 27460030 27460030 + Missense_Mutation SNP A A T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr16:27460030A>T uc002doq.1 + 9 1276 c.1043A>T c.(1042-1044)AAG>ATG p.K348M IL21R_uc002dor.1_Missense_Mutation_p.K348M|IL21R_uc002dos.1_Missense_Mutation_p.K348M|uc002dot.2_RNA NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 348 Cytoplasmic (Potential). natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 GGTGTGCCCAAGCCCAGCTTC 0.627 NaN T BCL6 NHL 0 0 0 0.030593 0 25 79 ZNF629 23361 broad.mit.edu 37 16 30793590 30793590 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr16:30793590C>T uc002dzs.1 - 3 2267 c.2059G>A c.(2059-2061)GAA>AAA p.E687K NM_001080417 NP_001073886 Q9UEG4 ZN629_HUMAN zinc finger protein 629 687 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) AAGGGCTTTTCGTTGCCGTGG 0.567 NaN 0 0 0 0.0333 0 17 25 ZNF423 23090 broad.mit.edu 37 16 49671865 49671865 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr16:49671865C>T uc002efs.2 - 5 1496 c.1198G>A c.(1198-1200)GAC>AAC p.D400N ZNF423_uc010vgn.1_Missense_Mutation_p.D283N NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 400 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) CCCTGCCCGTCATCCCGCATC 0.627 NaN 0 0 0 0.069456 0 37 54 CDH8 1006 broad.mit.edu 37 16 61935121 61935122 + Missense_Mutation DNP CC CC AA TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr16:61935121_61935122CC>AA uc002eog.1 - 3 760_761 c.508_509GG>TT c.(508-510)GGA>TTA p.G170L NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 170 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ATGATAGGGTCCATTAAGAAAC 0.401 NaN 0 0 0 0.004672 0 37 69 FOXC2 2303 broad.mit.edu 37 16 86601425 86601425 + Silent SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr16:86601425C>T uc002fjq.2 + 1 569 c.484C>T c.(484-486)CTG>TTG p.L162L NM_005251 NP_005242 Q99958 FOXC2_HUMAN forkhead box C2 162 Fork-head. anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding 0 CGGCAGCTTCCTGCGGCGCCG 0.667 NaN Late-onset_Hereditary_Lymphedema 0 0 0 0.034045 0 28 46 UNC45B 146862 broad.mit.edu 37 17 33479931 33479931 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr17:33479931C>T uc002hja.2 + 5 498 c.401C>T c.(400-402)ACA>ATA p.T134I UNC45B_uc002hjb.2_Missense_Mutation_p.T134I|UNC45B_uc002hjc.2_Missense_Mutation_p.T134I|UNC45B_uc010cto.2_Missense_Mutation_p.T134I NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 134 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) CAGTTCTCCACAGACTCGAGG 0.537 NaN 0 0 0 0.039052 0 39 222 UNC45B 146862 broad.mit.edu 37 17 33496943 33496943 + Missense_Mutation SNP T T G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr17:33496943T>G uc002hja.2 + 11 1637 c.1540T>G c.(1540-1542)TGT>GGT p.C514G UNC45B_uc002hjb.2_Missense_Mutation_p.C514G|UNC45B_uc002hjc.2_Missense_Mutation_p.C514G|UNC45B_uc010cto.2_Intron NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 514 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) GGCCAAACAGTGTCGCAAGTA 0.582 NaN 0 0 0 0.045705 0 32 68 KRT13 3860 broad.mit.edu 37 17 39659035 39659035 + Silent SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr17:39659035G>A uc002hwu.1 - 5 990 c.927C>T c.(925-927)ACC>ACT p.T309T KRT13_uc002hwv.1_Silent_p.T309T|KRT13_uc002hww.2_Silent_p.T202T|KRT13_uc010wfr.1_Silent_p.T202T|KRT13_uc010cxo.2_Silent_p.T309T|KRT13_uc002hwx.1_Silent_p.T297T NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 309 Rod.|Coil 2. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) TGGCAGTGTTGGTAGACACCT 0.567 NaN 0 0 0 0.048971 0 65 258 STAT5B 6777 broad.mit.edu 37 17 40370182 40370182 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr17:40370182C>T uc002hzh.2 - 9 1325 c.1156G>A c.(1156-1158)GAG>AAG p.E386K STAT5B_uc002hzi.3_Missense_Mutation_p.E386K NM_012448 NP_036580 P51692 STA5B_HUMAN signal transducer and activator of transcription 386 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity ovary(3)|lung(2)|skin(1) 6 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) CGGGTGTTCTCGTTCTTGAGC 0.547 NaN 0 0 0 0.0333 0 17 26 ABCA8 10351 broad.mit.edu 37 17 66871845 66871845 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr17:66871845G>A uc002jhp.2 - 34 4459 c.4280C>T c.(4279-4281)ACG>ATG p.T1427M ABCA8_uc002jhq.2_Missense_Mutation_p.T1467M|ABCA8_uc010wqq.1_Missense_Mutation_p.T1462M NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 1427 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) ACCCCTTTCCGTGTTTCTAAA 0.483 NaN 0 0 0 0.092188 0 39 54 KCNJ2 3759 broad.mit.edu 37 17 68171213 68171213 + Silent SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr17:68171213C>T uc010dfg.2 + 2 434 c.33C>T c.(31-33)ATC>ATT p.I11I KCNJ2_uc002jir.2_Silent_p.I11I NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 11 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) GCTACAGCATCGTCTCTTCAG 0.512 NaN 0 0 0 0.086207 0 34 68 DTNA 1837 broad.mit.edu 37 18 32395882 32395882 + Missense_Mutation SNP A A T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr18:32395882A>T uc010dmn.1 + 6 614 c.613A>T c.(613-615)ACG>TCG p.T205S DTNA_uc002kxu.2_Missense_Mutation_p.T205S|DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.T205S|DTNA_uc002kxw.2_Missense_Mutation_p.T205S|DTNA_uc002kxx.2_Missense_Mutation_p.T205S|DTNA_uc010dmj.2_Missense_Mutation_p.T205S|DTNA_uc002kxz.2_Missense_Mutation_p.T205S|DTNA_uc002kxy.2_Missense_Mutation_p.T205S|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.T205S|DTNA_uc002kyb.3_Missense_Mutation_p.T205S|DTNA_uc010dmm.2_Missense_Mutation_p.T205S|DTNA_uc010xby.1_5'Flank|DTNA_uc010dmo.2_5'Flank|DTNA_uc002kyd.3_5'Flank|DTNA_uc010xbz.1_5'Flank|DTNA_uc010xca.1_5'Flank|DTNA_uc002kye.2_5'Flank NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 205 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 GAAAAAAGTCACGTTAAATGG 0.398 NaN 0 0 0 0.024245 0 15 149 LINGO3 645191 broad.mit.edu 37 19 2290293 2290293 + Silent SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr19:2290293G>A uc010dsx.1 - 2 1611 c.1483C>T c.(1483-1485)CTG>TTG p.L495L SPPL2B_uc010dsw.1_Intron|uc002lvo.1_5'UTR NM_001101391 NP_001094861 P0C6S8 LIGO3_HUMAN leucine rich repeat and Ig domain containing 3 495 Extracellular (Potential).|Ig-like C2-type. integral to membrane 0 CGCACGGTCAGCGTGGCGAAG 0.746 NaN 0 0 0 0.021553 0 6 15 TMPRSS9 360200 broad.mit.edu 37 19 2413950 2413950 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr19:2413950C>T uc010xgx.1 + 9 1405 c.1405C>T c.(1405-1407)CCC>TCC p.P469S TMPRSS9_uc002lvv.1_Missense_Mutation_p.P503S NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 469 Extracellular (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTCAGCACCCCCACCAAATC 0.607 NaN 0 0 0 0.009096 0 4 27 LMNB2 84823 broad.mit.edu 37 19 2433947 2433947 + Silent SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr19:2433947G>A uc002lvy.2 - 8 1386 c.1299C>T c.(1297-1299)GGC>GGT p.G433G LMNB2_uc002lwa.1_Silent_p.G453G NM_032737 NP_116126 Q03252 LMNB2_HUMAN lamin B2 433 Tail. LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979). nuclear inner membrane structural molecule activity large_intestine(1)|ovary(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGTGCCCGTGCCCAGGACGC 0.711 NaN 0 0 0 0.021553 0 6 32 LMNB2 84823 broad.mit.edu 37 19 2433965 2433965 + Silent SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr19:2433965G>A uc002lvy.2 - 8 1368 c.1281C>T c.(1279-1281)AGC>AGT p.S427S LMNB2_uc002lwa.1_Silent_p.S447S NM_032737 NP_116126 Q03252 LMNB2_HUMAN lamin B2 427 Tail. LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979). nuclear inner membrane structural molecule activity large_intestine(1)|ovary(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCTTGGGCCGCTGCCCAAGG 0.716 NaN 0 0 0 0.014758 0 5 25 C19orf29 58509 broad.mit.edu 37 19 3623701 3623701 + Silent SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr19:3623701G>A uc002lyh.2 - 2 680 c.627C>T c.(625-627)ACC>ACT p.T209T C19orf29_uc010dtn.2_5'Flank|C19orf29_uc002lyi.3_Silent_p.T209T|C19orf29_uc010dto.2_RNA NM_001080543 NP_001074012 Q8WUQ7 CS029_HUMAN chromosome 19 open reading frame 29 209 catalytic step 2 spliceosome protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) TCCAGATGAAGGTGCCCAGCA 0.592 NaN 0 0 0 0.004672 0 3 24 MUC16 94025 broad.mit.edu 37 19 9067793 9067793 + Missense_Mutation SNP C C G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr19:9067793C>G uc002mkp.2 - 3 19857 c.19653G>C c.(19651-19653)AAG>AAC p.K6551N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6553 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TATCTGTGGTCTTCACTAGGC 0.483 NaN 0 0 0 0.076483 0 24 52 ZNF490 57474 broad.mit.edu 37 19 12691722 12691722 + Silent SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr19:12691722G>A uc002mtz.2 - 5 1296 c.1167C>T c.(1165-1167)CCC>CCT p.P389P NM_020714 NP_065765 Q9ULM2 ZN490_HUMAN zinc finger protein 490 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TACATTCATAGGGTTTTTCTC 0.393 NaN 0 0 0 0.076483 0 22 132 NANOS3 342977 broad.mit.edu 37 19 13988556 13988556 + Missense_Mutation SNP G G T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr19:13988556G>T uc002mxj.3 + 1 607 c.494G>T c.(493-495)CGC>CTC p.R165L NM_001098622 NP_001092092 P60323 NANO3_HUMAN nanos homolog 3 146 anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|nucleus|stress granule RNA binding|zinc ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(19;2e-21) ACAGGCCACCGCCGAGGAGGA 0.652 NaN 1 0 1.06961e-07 0.038147 1.11657e-07 8 4 RYR1 6261 broad.mit.edu 37 19 38931454 38931454 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr19:38931454G>A uc002oit.2 + 2 245 c.115G>A c.(115-117)GAG>AAG p.E39K RYR1_uc002oiu.2_Missense_Mutation_p.E39K NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 39 Cytoplasmic. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCTGGCCGCCGAGGGCTTCGG 0.682 NaN 0 0 0 0.038147 0 7 27 ZNF845 91664 broad.mit.edu 37 19 53854662 53854662 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr19:53854662G>A uc010ydv.1 + 4 851 c.734G>A c.(733-735)TGT>TAT p.C245Y ZNF845_uc010ydw.1_Missense_Mutation_p.C245Y NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 245 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAATATAAATGTGATGTGTGT 0.368 NaN 0 0 0 0.108266 0 29 44 ZNF606 80095 broad.mit.edu 37 19 58491249 58491249 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr19:58491249C>T uc002qqw.2 - 7 1417 c.799G>A c.(799-801)GAC>AAC p.D267N ZNF606_uc010yhp.1_Missense_Mutation_p.D177N NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) ACAGTTTTGTCATAATCATTA 0.338 NaN 0 0 0 0.048971 0 135 170 RPS7 6201 broad.mit.edu 37 2 3627748 3627748 + Silent SNP C C T rs149082052 TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr2:3627748C>T uc002qxw.2 + 6 511 c.405C>T c.(403-405)TTC>TTT p.F135F RPS7_uc002qxy.2_RNA NM_001011 NP_001002 P62081 RS7_HUMAN ribosomal protein S7 135 endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome protein binding|RNA binding|structural constituent of ribosome 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208) ACTTGGTCTTCCCAAGCGAAA 0.493 NaN 0 0 0 0.048971 0 67 94 GTF3C2 2976 broad.mit.edu 37 2 27551030 27551030 + Silent SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr2:27551030C>T uc002rjv.1 - 18 2646 c.2283G>A c.(2281-2283)CCG>CCA p.P761P MPV17_uc002rjt.2_5'Flank|GTF3C2_uc010eyy.1_Silent_p.P216P|GTF3C2_uc002rju.1_Silent_p.P772P|GTF3C2_uc002rjw.1_Silent_p.P761P NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 761 transcription factor TFIIIC complex ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTCCTGATACGGTATCAGAT 0.443 NaN 0 0 0 0.054565 0 28 53 C2orf40 84417 broad.mit.edu 37 2 106694282 106694282 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr2:106694282G>A uc010fjf.2 + 4 455 c.347G>A c.(346-348)GGC>GAC p.G116D NM_032411 NP_115787 Q9H1Z8 AUGN_HUMAN esophageal cancer related gene 4 protein 116 extracellular region|transport vesicle 0 GAATACTATGGCGATTACTAC 0.433 NaN 0 0 0 0.09836 0 40 64 CXCR4 7852 broad.mit.edu 37 2 136872564 136872564 + Missense_Mutation SNP A A C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr2:136872564A>C uc002tuz.2 - 2 1029 c.934T>G c.(934-936)TCT>GCT p.S312A CXCR4_uc002tuy.2_Missense_Mutation_p.S316A|CXCR4_uc010fnk.2_Missense_Mutation_p.S297A NM_003467 NP_003458 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 isoform b 312 Cytoplasmic. activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding upper_aerodigestive_tract(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) TGCTGGGCAGAGGTTTTAAAT 0.512 NaN 0 0 0 0.048971 0 340 531 THSD7B 80731 broad.mit.edu 37 2 138414424 138414424 + Silent SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr2:138414424T>C uc002tva.1 + 22 4077 c.4077T>C c.(4075-4077)GAT>GAC p.D1359D THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTGCATTGATGGAAGAAGCT 0.453 NaN 0 0 0 0.069288 0 24 38 LRP1B 53353 broad.mit.edu 37 2 141283905 141283905 + Missense_Mutation SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr2:141283905T>C uc002tvj.1 - 48 8749 c.7777A>G c.(7777-7779)ACG>GCG p.T2593A NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2593 Extracellular (Potential).|LDL-receptor class A 13. 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) AACTCAACCGTGGCACAGGTT 0.388 NaN TSP Lung(27;0.18) 0 0 0 0.037714 0 29 42 TTN 7273 broad.mit.edu 37 2 179472164 179472164 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr2:179472164C>T uc010zfg.1 - 226 45771 c.45547G>A c.(45547-45549)GGT>AGT p.G15183S uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G8878S|TTN_uc010zfi.1_Missense_Mutation_p.G8811S|TTN_uc010zfj.1_Missense_Mutation_p.G8686S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16110 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATTTGGAACCACAGCTATTT 0.378 NaN 0 0 0 0.048971 0 81 129 TTN 7273 broad.mit.edu 37 2 179583684 179583684 + Missense_Mutation SNP T T A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr2:179583684T>A uc010zfg.1 - 81 20735 c.20511A>T c.(20509-20511)GAA>GAT p.E6837D TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3498D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7764 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGGGGTTTGTTCAAAAGATG 0.448 NaN 0 0 0 0.080935 0 10 11 ABCA12 26154 broad.mit.edu 37 2 215854127 215854127 + Nonsense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr2:215854127C>T uc002vew.2 - 26 3975 c.3755G>A c.(3754-3756)TGG>TAG p.W1252* ABCA12_uc002vev.2_Nonsense_Mutation_p.W934*|ABCA12_uc010zjn.1_Nonsense_Mutation_p.W179* NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1252 Helical; (Potential). cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ACAGCACAGCCAGCCAAATGA 0.428 NaN 0 0 0 0.092188 0 39 65 DHX35 60625 broad.mit.edu 37 20 37662873 37662873 + Missense_Mutation SNP G G T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr20:37662873G>T uc002xjh.2 + 21 1991 c.1980G>T c.(1978-1980)CAG>CAT p.Q660H DHX35_uc010zwa.1_Missense_Mutation_p.Q505H|DHX35_uc010zwb.1_Missense_Mutation_p.Q505H|DHX35_uc010zwc.1_Missense_Mutation_p.Q629H NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 660 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding lung(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) AAGTTATACAGACCTCCAAGT 0.448 NaN 1 0 3.7963e-18 0.083992 4.18768e-18 23 82 ELMO2 63916 broad.mit.edu 37 20 45022241 45022241 + Splice_Site SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr20:45022241C>T uc002xrt.1 - 5 330 c.120_splice c.e5-1 p.G40_splice ELMO2_uc002xru.1_Splice_Site_p.G40_splice|ELMO2_uc010zxr.1_Splice_Site_p.G40_splice|ELMO2_uc010zxs.1_Splice_Site|ELMO2_uc002xrx.1_Splice_Site_p.G40_splice NM_133171 NP_573403 Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) CAACGACCACCTATGCAAGAG 0.453 NaN 0 0 0 0.048971 0 96 195 ZNF831 128611 broad.mit.edu 37 20 57768011 57768011 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr20:57768011G>A uc002yan.2 + 1 1937 c.1937G>A c.(1936-1938)AGG>AAG p.R646K NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 646 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) AAGAAAGCCAGGGAGGTGGGA 0.567 NaN 0 0 0 0.048971 0 46 127 C20orf11 54994 broad.mit.edu 37 20 61572869 61572869 + Silent SNP A A G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr20:61572869A>G uc002ydy.2 + 2 192 c.15A>G c.(13-15)GAA>GAG p.E5E NM_017896 NP_060366 Q9NWU2 CT011_HUMAN chromosome 20 open reading frame 11 5 nucleus protein binding 0 Breast(26;5.68e-08) GTTATGCAGAAAAACCCGATG 0.458 NaN 0 0 0 0.024245 0 15 50 USP25 29761 broad.mit.edu 37 21 17203740 17203740 + Silent SNP C C T rs145101158 TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr21:17203740C>T uc002yjy.1 + 16 2002 c.1785C>T c.(1783-1785)GCC>GCT p.A595A USP25_uc011aby.1_Silent_p.A595A|USP25_uc002yjz.1_Silent_p.A595A|USP25_uc010gla.1_Intron NM_013396 NP_037528 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 595 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3)|liver(2) 5 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) GATTACATGCCGTTTTAGTTC 0.373 NaN 0 0 0 0.069288 0 24 131 COL18A1 80781 broad.mit.edu 37 21 46910215 46910215 + Silent SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr21:46910215C>T uc011afs.1 + 19 3252 c.3231C>T c.(3229-3231)CCC>CCT p.P1077P COL18A1_uc002zhg.2_Silent_p.P662P|COL18A1_uc002zhi.2_Silent_p.P842P NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 1077 Triple-helical region 4 (COL4). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) ATGGAGTCCCCGGGTTCCCCG 0.677 NaN 0 0 0 0.02938 0 6 11 DDTL 100037417 broad.mit.edu 37 22 24313540 24313540 + Missense_Mutation SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr22:24313540T>C uc002zyy.3 + 3 427 c.350T>C c.(349-351)ATA>ACA p.I117T DDT_uc011ajf.1_Intron NM_001084393 NP_001077862 A6NHG4 DDTL_HUMAN D-dopachrome tautomerase-like 117 cytoplasm lyase activity 0 GGAGAGATAATAGAAGGTAAG 0.483 NaN 0 0 0 0.09836 0 43 65 CCBP2 1238 broad.mit.edu 37 3 42906025 42906025 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr3:42906025G>A uc003cme.2 + 3 210 c.31G>A c.(31-33)GCC>ACC p.A11T CCBP2_uc003cmd.1_Missense_Mutation_p.A11T|CCBP2_uc003cmf.2_Missense_Mutation_p.A11T|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron NM_001296 NP_001287 O00590 CCBP2_HUMAN chemokine binding protein 2 11 Extracellular (Potential). chemotaxis|immune response|multicellular organismal development integral to plasma membrane C-X-C chemokine receptor activity lung(4)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.241) GCAGCCACTCGCCACTGAGGA 0.542 NaN 0 0 0 0.050027 0 30 41 RASSF1 11186 broad.mit.edu 37 3 50369047 50369047 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr3:50369047C>T uc003dad.1 - 4 846 c.715G>A c.(715-717)GTG>ATG p.V239M RASSF1_uc003daa.1_Missense_Mutation_p.V84M|RASSF1_uc003dab.1_Missense_Mutation_p.V165M|RASSF1_uc003dac.2_Missense_Mutation_p.V84M|RASSF1_uc003dae.1_Missense_Mutation_p.V235M|RASSF1_uc010hlk.1_RNA|RASSF1_uc003daf.1_Missense_Mutation_p.V84M NM_170714 NP_733832 Q9NS23 RASF1_HUMAN Ras association domain family 1 isoform D 239 Ras-associating. cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole identical protein binding|protein binding|protein N-terminus binding|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TCATCCACCACCAAGAACTTT 0.577 NaN 0 0 0 0.028581 0 16 114 WDR52 55779 broad.mit.edu 37 3 113145001 113145001 + Nonsense_Mutation SNP G G C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr3:113145001G>C uc003eae.1 - 4 423 c.377C>G c.(376-378)TCA>TGA p.S126* NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 126 central_nervous_system(1) 1 TGGTATGTTTGAATCCAGAGT 0.353 NaN 0 0 0 0.048971 0 122 219 ARGFX 503582 broad.mit.edu 37 3 121305213 121305213 + Missense_Mutation SNP T T A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr3:121305213T>A uc003eef.2 + 5 809 c.714T>A c.(712-714)GAT>GAA p.D238E NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 238 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(114;0.152) ATCTTCCTGATGAGAATGAGA 0.463 NaN 0 0 0 0.048971 0 63 112 FBXO40 51725 broad.mit.edu 37 3 121345737 121345737 + Nonsense_Mutation SNP C C T rs139292085 TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr3:121345737C>T uc003eeg.2 + 4 2320 c.2110C>T c.(2110-2112)CGA>TGA p.R704* NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 704 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) AATCAGACCACGAGGAAGATA 0.483 NaN 0 0 0 0.050027 0 31 62 H1FX 8971 broad.mit.edu 37 3 129034521 129034521 + Missense_Mutation SNP C C G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr3:129034521C>G uc003elx.2 - 1 600 c.225G>C c.(223-225)AAG>AAC p.K75N C3orf47_uc011bkv.1_5'Flank NM_006026 NP_006017 Q92522 H1X_HUMAN H1 histone family, member X 75 H15. nucleosome assembly nucleosome|nucleus DNA binding 0 ACGGAACCTTCTTGGCCTCGG 0.617 NaN 0 0 0 0.047766 0 9 5 H1FX 8971 broad.mit.edu 37 3 129034529 129034529 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr3:129034529C>T uc003elx.2 - 1 592 c.217G>A c.(217-219)GAG>AAG p.E73K C3orf47_uc011bkv.1_5'Flank NM_006026 NP_006017 Q92522 H1X_HUMAN H1 histone family, member X 73 H15. nucleosome assembly nucleosome|nucleus DNA binding 0 TTCTTGGCCTCGGTGTAGATC 0.597 NaN 0 0 0 0.038147 0 7 5 PRR23B 389151 broad.mit.edu 37 3 138738777 138738777 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr3:138738777C>T uc003esy.1 - 1 992 c.727G>A c.(727-729)GGT>AGT p.G243S NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN proline rich 23B 243 Pro-rich. breast(1) 1 GCGTGGGGACCTGGACTCCCC 0.652 NaN 0 0 0 0.047766 0 7 33 GPR171 29909 broad.mit.edu 37 3 150916249 150916249 + Nonsense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr3:150916249G>A uc003eyq.3 - 3 1165 c.925C>T c.(925-927)CAG>TAG p.Q309* MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_013308 NP_037440 O14626 GP171_HUMAN G protein-coupled receptor 171 309 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTTTCTTTCTGAGCCTTGGTC 0.388 NaN 0 0 0 0.080422 0 39 75 FAM193A 8603 broad.mit.edu 37 4 2701490 2701490 + Missense_Mutation SNP G G T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr4:2701490G>T uc010icl.2 + 17 3069 c.2718G>T c.(2716-2718)GAG>GAT p.E906D FAM193A_uc010ick.2_Missense_Mutation_p.E1106D|FAM193A_uc003gfd.2_Missense_Mutation_p.E906D|FAM193A_uc011bvm.1_Missense_Mutation_p.E928D|FAM193A_uc011bvn.1_Missense_Mutation_p.E906D|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.E760D NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 906 Glu-rich.|Potential. ovary(3) 3 GGCGggaggaggaggaggatg 0.458 NaN 1 0 0.00448238 0.047766 0.00454611 8 39 EVC2 132884 broad.mit.edu 37 4 5564598 5564598 + Missense_Mutation SNP T T A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr4:5564598T>A uc003gij.2 - 22 3958 c.3904A>T c.(3904-3906)ATG>TTG p.M1302L EVC2_uc011bwb.1_Missense_Mutation_p.M742L|EVC2_uc003gik.2_Missense_Mutation_p.M1222L NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 1302 integral to membrane large_intestine(3)|ovary(2) 5 AAGGCCCTCATGGCCTTTTTG 0.488 NaN 0 0 0 0.048971 0 51 112 LAP3 51056 broad.mit.edu 37 4 17606232 17606232 + Missense_Mutation SNP G G T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr4:17606232G>T uc003gph.1 + 11 1364 c.1202G>T c.(1201-1203)GGA>GTA p.G401V NM_015907 NP_056991 P28838 AMPL_HUMAN leucine aminopeptidase 3 401 proteolysis nucleus aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding 0 GTAGCTTTGGGATCAGGTGCC 0.478 NaN 1 0 7.03913e-09 0.09319 7.42056e-09 11 114 GBA3 57733 broad.mit.edu 37 4 22749341 22749341 + Missense_Mutation SNP G G C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr4:22749341G>C uc003gqp.3 + 3 800 c.709G>C c.(709-711)GTG>CTG p.V237L GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.V238L NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 237 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 TCCCAACTCAGTGTCTGACCA 0.428 NaN 0 0 0 0.104719 0 36 177 AFM 173 broad.mit.edu 37 4 74357676 74357676 + Missense_Mutation SNP G G T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr4:74357676G>T uc003hhb.2 + 8 962 c.931G>T c.(931-933)GGC>TGC p.G311C NM_001133 NP_001124 P43652 AFAM_HUMAN afamin precursor 311 Albumin 2. vitamin transport vitamin E binding ovary(2)|central_nervous_system(1) 3 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ACCAGAGCGCGGCCAGTGCAT 0.358 NaN 1 0 1.85244e-09 0.083992 1.96249e-09 23 38 PPBP 5473 broad.mit.edu 37 4 74853045 74853045 + Missense_Mutation SNP G G T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr4:74853045G>T uc003hhj.2 - 3 411 c.331C>A c.(331-333)CCC>ACC p.P111T NM_002704 NP_002695 P02775 CXCL7_HUMAN pro-platelet basic protein precursor 111 chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division extracellular space|platelet alpha granule lumen chemokine activity|glucose transmembrane transporter activity|growth factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) TTGATTCTGGGAGCATCTGGG 0.428 NaN 1 0 4.88482e-21 0.048971 5.53096e-21 45 68 WDFY3 23001 broad.mit.edu 37 4 85781566 85781566 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr4:85781566C>T uc003hpd.2 - 4 587 c.179G>A c.(178-180)AGG>AAG p.R60K WDFY3_uc003hpf.2_Missense_Mutation_p.R60K NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 60 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TGGACTTACCCTGTTAAACAC 0.507 NaN 0 0 0 0.108266 0 25 57 TIGD2 166815 broad.mit.edu 37 4 90035429 90035429 + Missense_Mutation SNP G G T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr4:90035429G>T uc003hsk.2 + 1 1462 c.1304G>T c.(1303-1305)CGG>CTG p.R435L FAM13A_uc003hsh.1_5'Flank NM_145715 NP_663761 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 435 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) TTCGACTCTCGGAGCAGTGAC 0.443 NaN 1 0 1.7881e-09 0.037714 1.90375e-09 30 46 CENPE 1062 broad.mit.edu 37 4 104061057 104061057 + Silent SNP A A G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr4:104061057A>G uc003hxb.1 - 38 6183 c.6093T>C c.(6091-6093)CTT>CTC p.L2031L CENPE_uc003hxc.1_Intron|CENPE_uc003hxd.1_Intron NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 2031 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTATTTCTTCAAGGCTTTCAT 0.358 NaN 0 0 0 0.048971 0 47 96 RBM46 166863 broad.mit.edu 37 4 155719125 155719125 + Missense_Mutation SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr4:155719125T>C uc003ioo.2 + 3 487 c.314T>C c.(313-315)TTT>TCT p.F105S RBM46_uc011cim.1_Missense_Mutation_p.F105S|RBM46_uc003iop.1_Missense_Mutation_p.F105S NM_144979 NP_659416 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 105 RRM 1. nucleotide binding|RNA binding central_nervous_system(1)|skin(1) 2 all_hematologic(180;0.24) Renal(120;0.0854) GGTTATGCTTTTGTGATGTAC 0.353 NaN 0 0 0 0.039052 0 40 60 TDO2 6999 broad.mit.edu 37 4 156838600 156838600 + Missense_Mutation SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr4:156838600T>C uc003ipf.1 + 10 1014 c.950T>C c.(949-951)ATA>ACA p.I317T NM_005651 NP_005642 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 317 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity 0 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) CTTATGGACATAGATTCACTG 0.418 NaN 0 0 0 0.048971 0 42 56 ODZ3 55714 broad.mit.edu 37 4 183696288 183696288 + Silent SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr4:183696288C>T uc003ivd.1 + 23 5323 c.5286C>T c.(5284-5286)GTC>GTT p.V1762V NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1762 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AAGTCAATGTCTTTGGCCGCA 0.532 NaN 0 0 0 0.028581 0 15 32 ADAMTS12 81792 broad.mit.edu 37 5 33576735 33576735 + Silent SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr5:33576735G>A uc003jia.1 - 19 3559 c.3396C>T c.(3394-3396)TCC>TCT p.S1132S ADAMTS12_uc010iuq.1_Silent_p.S1047S NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1132 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TAGGGTTGCGGGAAGATGACA 0.483 NaN HNSCC(64;0.19) 0 0 0 0.083992 0 25 107 CARD6 84674 broad.mit.edu 37 5 40843579 40843579 + Silent SNP A A G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr5:40843579A>G uc003jmg.2 + 2 684 c.609A>G c.(607-609)CTA>CTG p.L203L NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 203 Asp/Glu-rich. apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 ATGAGGAGCTAGATGATTCTT 0.393 NaN 0 0 0 0.024245 0 16 52 FBXO4 26272 broad.mit.edu 37 5 41927133 41927133 + Missense_Mutation SNP A A G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr5:41927133A>G uc003jmq.2 + 2 264 c.208A>G c.(208-210)ATT>GTT p.I70V FBXO4_uc003jmp.2_Missense_Mutation_p.I70V|FBXO4_uc003jmr.2_Missense_Mutation_p.I70V NM_012176 NP_036308 Q9UKT5 FBX4_HUMAN F-box only protein 4 isoform 1 70 F-box. positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity liver(1) 1 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) ACAGCTATATATTTTGTCCTT 0.333 NaN 0 0 0 0.048971 0 69 140 VCAN 1462 broad.mit.edu 37 5 82816650 82816650 + Missense_Mutation SNP A A T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr5:82816650A>T uc003kii.3 + 7 2881 c.2525A>T c.(2524-2526)GAC>GTC p.D842V VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.D842V|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 842 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AAGGATAAAGACATCCCAAGT 0.423 NaN 0 0 0 0.049695 0 20 95 MEF2C 4208 broad.mit.edu 37 5 88047694 88047694 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr5:88047694G>A uc003kjj.2 - 5 1242 c.569C>T c.(568-570)CCT>CTT p.P190L MEF2C_uc003kji.2_Missense_Mutation_p.P190L|MEF2C_uc003kjk.2_Missense_Mutation_p.P190L|MEF2C_uc003kjm.2_Missense_Mutation_p.P188L|MEF2C_uc003kjl.2_Missense_Mutation_p.P208L NM_002397 NP_002388 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C isoform 1 190 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(3)|breast(2)|ovary(1)|large_intestine(1) 7 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) TGCACTTGGAGGTCGATGTGT 0.473 NaN HNSCC(66;0.2) 0 0 0 0.037714 0 27 246 LRRTM2 26045 broad.mit.edu 37 5 138209838 138209838 + Missense_Mutation SNP A A C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr5:138209838A>C uc011cyz.1 - 2 869 c.412T>G c.(412-414)TTG>GTG p.L138V CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Intron|CTNNA1_uc003ldl.2_5'Flank NM_015564 NP_056379 O43300 LRRT2_HUMAN leucine rich repeat transmembrane neuronal 2 138 LRR 4.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GACAGGTCCAAATTTTGCAGG 0.398 NaN 0 0 0 0.038395 0 18 27 PCDHB5 26167 broad.mit.edu 37 5 140517344 140517344 + Missense_Mutation SNP G G T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr5:140517344G>T uc003liq.2 + 1 2545 c.2328G>T c.(2326-2328)CAG>CAT p.Q776H NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 776 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTTGCCCCAGGGCGCTGGTG 0.502 NaN 1 0 2.06477e-34 0.048971 2.41454e-34 86 173 PCDHGA10 56106 broad.mit.edu 37 5 140795157 140795157 + Missense_Mutation SNP A A G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr5:140795157A>G uc003lkl.1 + 1 2415 c.2415A>G c.(2413-2415)ATA>ATG p.I805M 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|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.I805M|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 805 Cytoplasmic (Potential). 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) AGTTTCCTATAGAGGATACCC 0.393 NaN 0 0 0 0.105934 0 12 37 ABLIM3 22885 broad.mit.edu 37 5 148632376 148632376 + Missense_Mutation SNP G G T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr5:148632376G>T uc003lpy.2 + 23 2165 c.1914G>T c.(1912-1914)AAG>AAT p.K638N ABLIM3_uc003lpz.1_Missense_Mutation_p.K638N|ABLIM3_uc003lqa.1_Missense_Mutation_p.K535N|ABLIM3_uc003lqb.2_Missense_Mutation_p.K527N|ABLIM3_uc003lqc.1_Missense_Mutation_p.K605N|ABLIM3_uc003lqd.1_Missense_Mutation_p.K543N|ABLIM3_uc003lqf.2_Missense_Mutation_p.K527N|ABLIM3_uc003lqe.1_Missense_Mutation_p.K527N NM_014945 NP_055760 O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 638 HP. axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACTGCCCAAGGATGTAGACA 0.488 NaN 1 0 1.36615e-20 0.054565 1.53871e-20 34 98 FAT2 2196 broad.mit.edu 37 5 150934193 150934193 + Silent SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr5:150934193G>A uc003lue.3 - 4 3688 c.3675C>T c.(3673-3675)ACC>ACT p.T1225T GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1225 Extracellular (Potential).|Cadherin 10. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCACCCTGGAGGTGGACTTCA 0.517 NaN 0 0 0 0.083992 0 24 155 HK3 3101 broad.mit.edu 37 5 176314051 176314051 + Silent SNP T T A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr5:176314051T>A uc003mfa.2 - 13 1901 c.1809A>T c.(1807-1809)CCA>CCT p.P603P HK3_uc003mez.2_Silent_p.P159P NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 603 Glucose-binding (Potential).|Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TAAAACCCAGTGGGAGGCTCT 0.607 NaN 0 0 0 0.020292 0 14 41 SLC34A1 6569 broad.mit.edu 37 5 176813554 176813554 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr5:176813554G>A uc003mgk.3 + 5 620 c.519G>A c.(517-519)ATG>ATA p.M173I NM_003052 NP_003043 Q06495 NPT2A_HUMAN solute carrier family 34 (sodium phosphate), 173 Helical; Name=M3; (Potential). phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCGTCAGCATGGTCTCCTCTG 0.647 NaN 0 0 0 0.043863 0 18 111 TTBK1 84630 broad.mit.edu 37 6 43226925 43226925 + Missense_Mutation SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr6:43226925T>C uc003ouq.1 + 11 1445 c.1166T>C c.(1165-1167)GTC>GCC p.V389A NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 389 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCCCACCTTGTCCCCCACCCC 0.632 NaN 0 0 0 0.069234 0 10 81 TMEM30A 55754 broad.mit.edu 37 6 75977363 75977363 + Silent SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr6:75977363T>C uc003phw.2 - 2 617 c.339A>G c.(337-339)TCA>TCG p.S113S TMEM30A_uc003phx.2_Intron NM_018247 NP_060717 Q9NV96 CC50A_HUMAN transmembrane protein 30A isoform 1 113 integral to membrane 0 AGACCTCAAATGACTTTTCCA 0.358 NaN 0 0 0 0.074837 0 34 172 TTK 7272 broad.mit.edu 37 6 80723066 80723066 + Nonsense_Mutation SNP G G T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr6:80723066G>T uc003pjc.2 + 9 1041 c.967G>T c.(967-969)GAA>TAA p.E323* TTK_uc003pjb.3_Nonsense_Mutation_p.E323* NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 323 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TGATTCCTGTGAATTAAGAAA 0.348 NaN 1 0 1.35964e-18 0.048971 1.50758e-18 44 127 KIAA0776 23376 broad.mit.edu 37 6 96990871 96990871 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr6:96990871G>A uc003por.2 + 12 1429 c.1381G>A c.(1381-1383)GAA>AAA p.E461K KIAA0776_uc010kck.2_RNA NM_015323 NP_056138 O94874 UFL1_HUMAN hypothetical protein LOC23376 461 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) TAGTGATGATGAATCTCAATC 0.373 NaN 0 0 0 0.048971 0 43 92 STXBP5 134957 broad.mit.edu 37 6 147704100 147704100 + Nonsense_Mutation SNP C C G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr6:147704100C>G uc003qlz.2 + 27 3541 c.3380C>G c.(3379-3381)TCA>TGA p.S1127* STXBP5_uc010khz.1_Nonsense_Mutation_p.S1091*|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Nonsense_Mutation_p.S782* NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 1127 v-SNARE coiled-coil homology. exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) GCCATGTTATCAAGTGCAGAG 0.428 NaN 0 0 0 0.080422 0 38 53 C6orf72 116254 broad.mit.edu 37 6 149893469 149893469 + Missense_Mutation SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr6:149893469T>C uc003qmq.1 + 2 196 c.169T>C c.(169-171)TCT>CCT p.S57P C6orf72_uc010kie.1_Intron NM_138785 NP_620140 Q9NU53 CF072_HUMAN hypothetical protein LOC116254 precursor 57 Extracellular (Potential). integral to membrane 0 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171) TGGGGACATATCTAAACAGCA 0.343 NaN 0 0 0 0.076483 0 25 51 PACRG 135138 broad.mit.edu 37 6 163235240 163235240 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr6:163235240G>A uc003qua.2 + 3 442 c.218G>A c.(217-219)CGA>CAA p.R73Q PACRG_uc003qub.2_Missense_Mutation_p.R73Q|PACRG_uc003quc.2_Missense_Mutation_p.R73Q NM_152410 NP_689623 Q96M98 PACRG_HUMAN parkin co-regulated gene protein isoform 1 73 0 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) ACAGCATTTCGAAAATTCTAT 0.468 NaN 0 0 0 0.039052 0 42 199 C7orf36 57002 broad.mit.edu 37 7 39612007 39612007 + Missense_Mutation SNP C C G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr7:39612007C>G uc003thc.3 + 3 392 c.383C>G c.(382-384)TCC>TGC p.S128C NM_020192 NP_064577 Q9NRH1 CG036_HUMAN hypothetical protein LOC57002 128 0 ACTCCACCGTCCCATGTTGTA 0.373 NaN 0 0 0 0.042209 0 44 119 GCK 2645 broad.mit.edu 37 7 44190672 44190672 + Silent SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr7:44190672G>A uc003tkl.2 - 4 836 c.366C>T c.(364-366)CTC>CTT p.L122L GCK_uc003tkj.1_Silent_p.L121L|GCK_uc003tkk.1_Silent_p.L123L NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 122 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 TGTAGTCGAAGAGCTGGAAGA 0.587 NaN 0 0 0 0.034045 0 30 44 C7orf52 375607 broad.mit.edu 37 7 100817986 100817986 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr7:100817986C>T uc003uxy.1 - 2 342 c.103G>A c.(103-105)GAG>AAG p.E35K C7orf52_uc003uxz.1_Missense_Mutation_p.E35K|C7orf52_uc003uya.1_Missense_Mutation_p.E35K|C7orf52_uc003uyb.1_Missense_Mutation_p.E35K NM_198571 NP_940973 Q8N8M0 CG052_HUMAN hypothetical protein LOC375607 35 N-acetyltransferase activity ovary(1) 1 Lung NSC(181;0.168)|all_lung(186;0.215) GCCTCCACCTCCTGTGGCCGG 0.637 NaN 0 0 0 0.069288 0 23 127 TFEC 22797 broad.mit.edu 37 7 115596823 115596823 + Missense_Mutation SNP A A T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr7:115596823A>T uc003vhj.1 - 4 476 c.292T>A c.(292-294)TAT>AAT p.Y98N TFEC_uc003vhk.1_Missense_Mutation_p.Y69N|TFEC_uc003vhl.3_Missense_Mutation_p.Y69N|TFEC_uc011kmw.1_Missense_Mutation_p.Y188N|TFEC_uc003vhm.1_RNA NM_012252 NP_036384 O14948 TFEC_HUMAN transcription factor EC isoform a 98 Necessary for transcriptional transactivation. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity large_intestine(1) 1 STAD - Stomach adenocarcinoma(10;0.00878) TCACCGCTATACACATCCAAA 0.323 NaN 0 0 0 0.069456 0 33 59 SMO 6608 broad.mit.edu 37 7 128850949 128850949 + Missense_Mutation SNP C C A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr7:128850949C>A uc003vor.2 + 10 2076 c.1796C>A c.(1795-1797)CCC>CAC p.P599H SMO_uc003vos.2_Missense_Mutation_p.P274H NM_005631 NP_005622 Q99835 SMO_HUMAN smoothened precursor 599 Cytoplasmic (Potential). adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1) 37 CACGACGGGCCCGTGGGTGAG 0.632 NaN Mis skin basal cell 1 0 6.29468e-14 0.074837 6.83788e-14 38 89 TTC26 79989 broad.mit.edu 37 7 138822608 138822608 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr7:138822608G>A uc003vus.2 + 3 271 c.157G>A c.(157-159)GGG>AGG p.G53R TTC26_uc003vuq.2_Missense_Mutation_p.G53R|TTC26_uc011kqm.1_Missense_Mutation_p.G53R|TTC26_uc003vur.3_Missense_Mutation_p.G53R|TTC26_uc011kqn.1_Missense_Mutation_p.G53R|TTC26_uc011kqo.1_Intron|TTC26_uc011kqp.1_5'UTR|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Missense_Mutation_p.G53R NM_024926 NP_079202 A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 isoform 1 53 binding ovary(1) 1 ACGTCATGTTGGGGAAGAAGA 0.328 NaN 0 0 0 0.054565 0 30 105 TRPV5 56302 broad.mit.edu 37 7 142622811 142622811 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr7:142622811G>A uc003wby.1 - 8 1199 c.935C>T c.(934-936)CCA>CTA p.P312L TRPV5_uc003wbz.2_Missense_Mutation_p.P312L NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 312 Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) CTCCTTCACTGGGGTCTGTTC 0.527 NaN 0 0 0 0.021553 0 6 36 DOCK5 80005 broad.mit.edu 37 8 25234819 25234819 + Splice_Site SNP A A G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr8:25234819A>G uc003xeg.2 + 38 3954 c.3817_splice c.e38-2 p.W1273_splice PPP2R2A_uc003xek.2_Splice_Site_p.W62_splice|DOCK5_uc003xei.2_Splice_Site_p.W843_splice|DOCK5_uc003xej.2_Splice_Site NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) CTTCCTTTTCAGTGGTCTGAC 0.363 NaN 0 0 0 0.062417 0 22 24 SCARA3 51435 broad.mit.edu 37 8 27516466 27516466 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr8:27516466G>A uc003xga.1 + 5 920 c.779G>A c.(778-780)CGG>CAG p.R260Q SCARA3_uc003xgb.1_Missense_Mutation_p.R260Q NM_016240 NP_057324 Q6AZY7 SCAR3_HUMAN scavenger receptor class A, member 3 isoform 1 260 Extracellular (Potential). response to oxidative stress|UV protection collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane scavenger receptor activity skin(2)|ovary(1)|breast(1) 4 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) AACTACACACGGCTCTTCAGC 0.622 NaN 0 0 0 0.028581 0 15 25 ADHFE1 137872 broad.mit.edu 37 8 67357551 67357551 + Missense_Mutation SNP T T A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr8:67357551T>A uc003xwb.3 + 6 486 c.452T>A c.(451-453)CTG>CAG p.L151Q ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.L103Q|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_Intron|ADHFE1_uc011les.1_Missense_Mutation_p.L81Q|ADHFE1_uc011leq.1_Intron|ADHFE1_uc011ler.1_Intron NM_144650 NP_653251 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 151 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding ovary(1)|lung(1)|breast(1)|skin(1) 4 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) GCTGCTAATCTGTATGCATCC 0.493 NaN 0 0 0 0.058154 0 10 247 PRDM14 63978 broad.mit.edu 37 8 70981498 70981498 + Missense_Mutation SNP C C G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr8:70981498C>G uc003xym.2 - 2 800 c.598G>C c.(598-600)GAG>CAG p.E200Q NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 200 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) TGCAGGTCCTCCTCCGTGAAC 0.602 NaN 0 0 0 0.092188 0 42 85 DCAF4L2 138009 broad.mit.edu 37 8 88885212 88885212 + Missense_Mutation SNP C C A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr8:88885212C>A uc003ydz.2 - 1 1085 c.988G>T c.(988-990)GCG>TCG p.A330S NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 330 WD 2. ovary(1) 1 CCCACGGCCGCCACGACTCCT 0.567 NaN 1 0 1.21669e-08 0.059317 1.27633e-08 32 56 TRHR 7201 broad.mit.edu 37 8 110100523 110100523 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr8:110100523G>A uc003ymz.3 + 1 798 c.782G>A c.(781-783)AGG>AAG p.R261K NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 261 Cytoplasmic (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GTATCTTCAAGGAAGCAGGTA 0.383 NaN 0 0 0 0.028581 0 16 46 CSMD3 114788 broad.mit.edu 37 8 113657416 113657416 + Missense_Mutation SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr8:113657416T>C uc003ynu.2 - 20 3391 c.3232A>G c.(3232-3234)ATC>GTC p.I1078V CSMD3_uc003yns.2_Missense_Mutation_p.I350V|CSMD3_uc003ynt.2_Missense_Mutation_p.I1038V|CSMD3_uc011lhx.1_Missense_Mutation_p.I974V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1078 Extracellular (Potential).|CUB 6. 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 GGTGATAAGATTGTTCCACTA 0.398 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.099896 0 26 48 KIAA2026 158358 broad.mit.edu 37 9 6007430 6007430 + Missense_Mutation SNP G G A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr9:6007430G>A uc003zjq.3 - 1 574 c.358C>T c.(358-360)CGC>TGC p.R120C NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 120 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CCCCCGCTGCGCGGCCCTTCC 0.726 NaN 0 0 0 0.004672 0 3 23 ZCCHC6 79670 broad.mit.edu 37 9 88953842 88953842 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr9:88953842C>T uc004aoq.2 - 9 1446 c.1231G>A c.(1231-1233)GCA>ACA p.A411T ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Intron|ZCCHC6_uc004aou.2_Missense_Mutation_p.A411T|ZCCHC6_uc004aov.2_Missense_Mutation_p.A411T NM_024617 NP_078893 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 411 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding ovary(2) 2 TCATTTCCTGCGCTCACTTTA 0.433 NaN 0 0 0 0.028581 0 15 60 RABEPK 10244 broad.mit.edu 37 9 127996239 127996239 + Missense_Mutation SNP A A G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr9:127996239A>G uc004bpi.2 + 9 1272 c.1099A>G c.(1099-1101)ATT>GTT p.I367V RABEPK_uc004bpj.2_Missense_Mutation_p.I316V|RABEPK_uc004bpk.2_Missense_Mutation_p.I367V|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.I367V NM_005833 NP_005824 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 367 receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane ovary(1) 1 TGACGATTGTATTGTGACTGT 0.388 NaN 0 0 0 0.048971 0 96 206 C9orf50 375759 broad.mit.edu 37 9 132375441 132375441 + Missense_Mutation SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr9:132375441T>C uc004byc.3 - 6 1335 c.1133A>G c.(1132-1134)CAG>CGG p.Q378R C9orf50_uc004byb.3_RNA NM_199350 NP_955382 Q5SZB4 CI050_HUMAN hypothetical protein LOC375759 378 ovary(1)|central_nervous_system(1) 2 Ovarian(14;0.00556) TCGCGGCCTCTGAGCAGCGGC 0.607 NaN 0 0 0 0.104719 0 38 101 LAMC3 10319 broad.mit.edu 37 9 133911631 133911631 + Silent SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr9:133911631C>T uc004caa.1 + 4 986 c.888C>T c.(886-888)ACC>ACT p.T296T NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 296 Laminin EGF-like 1. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) AGCACAACACCACCGGCACAG 0.682 NaN 0 0 0 0.069456 0 17 56 FCN2 2220 broad.mit.edu 37 9 137777143 137777143 + Silent SNP C C A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr9:137777143C>A uc004cfg.1 + 5 370 c.360C>A c.(358-360)ACC>ACA p.T120T FCN2_uc004cfh.1_Silent_p.T82T NM_004108 NP_004099 Q15485 FCN2_HUMAN ficolin 2 isoform a precursor 120 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding large_intestine(1) 1 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) GCTGGCACACCATCTACCTGC 0.677 NaN 1 0 1.05317e-09 0.020292 1.12689e-09 14 46 FUNDC1 139341 broad.mit.edu 37 X 44401284 44401284 + Missense_Mutation SNP T T C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chrX:44401284T>C uc004dgc.2 - 2 235 c.92A>G c.(91-93)CAG>CGG p.Q31R NM_173794 NP_776155 Q8IVP5 FUND1_HUMAN FUN14 domain containing 1 31 0 ATTCCACCACTGGTGTCTTCT 0.408 NaN 0 0 0 0.038147 0 7 8 PCDH11X 27328 broad.mit.edu 37 X 91132785 91132785 + Missense_Mutation SNP G G C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chrX:91132785G>C uc004efk.1 + 2 2391 c.1546G>C c.(1546-1548)GAT>CAT p.D516H PCDH11X_uc004efl.1_Missense_Mutation_p.D516H|PCDH11X_uc004efo.1_Missense_Mutation_p.D516H|PCDH11X_uc010nmv.1_Missense_Mutation_p.D516H|PCDH11X_uc004efm.1_Missense_Mutation_p.D516H|PCDH11X_uc004efn.1_Missense_Mutation_p.D516H|PCDH11X_uc004efh.1_Missense_Mutation_p.D516H|PCDH11X_uc004efj.1_Missense_Mutation_p.D516H NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 516 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 ATTCAGCCTGGATTGTCGTAC 0.438 NaN 0 0 0 0.054565 0 36 27 ZMAT1 84460 broad.mit.edu 37 X 101138751 101138751 + Missense_Mutation SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chrX:101138751C>T uc004eim.2 - 2 4633 c.1135G>A c.(1135-1137)GAA>AAA p.E379K ZMAT1_uc011mrl.1_Missense_Mutation_p.E550K|ZMAT1_uc004ein.2_Missense_Mutation_p.E379K|ZMAT1_uc011mrm.1_Missense_Mutation_p.E379K NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 379 nucleus zinc ion binding ovary(1) 1 TCTGGCCTTTCTTTGCCTTCT 0.393 NaN 0 0 0 0.048971 0 68 59 ZMAT1 84460 broad.mit.edu 37 X 101141649 101141649 + Missense_Mutation SNP A A G TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chrX:101141649A>G uc004eim.2 - 1 3545 c.47T>C c.(46-48)TTA>TCA p.L16S ZMAT1_uc011mrl.1_Missense_Mutation_p.L187S|ZMAT1_uc004ein.2_Missense_Mutation_p.L16S|ZMAT1_uc011mrm.1_Missense_Mutation_p.L16S NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 16 nucleus zinc ion binding ovary(1) 1 GAACATATCTAAAGATGTAAA 0.328 NaN 0 0 0 0.062417 0 20 17 CDHR5 53841 broad.mit.edu 37 11 618994 618994 + Frame_Shift_Del DEL G G - TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr11:618994delG uc001lqj.2 - 13 1670 c.1565delC c.(1564-1566)CCGfs p.P522fs IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Intron|CDHR5_uc009ycc.2_Frame_Shift_Del_p.P356fs|CDHR5_uc009ycd.2_Frame_Shift_Del_p.P516fs|CDHR5_uc001lql.2_Frame_Shift_Del_p.P522fs NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN mucin and cadherin-like isoform 1 522 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 TTCTGCACCCGGGGGCCCCCC 0.677 NaN NaN NaN NaN NaN NaN 50 208 --- --- P2RX3 5024 broad.mit.edu 37 11 57137457 57137457 + Frame_Shift_Del DEL C C - TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr11:57137457delC uc001nju.2 + 12 1257 c.1181delC c.(1180-1182)TCCfs p.S394fs NM_002559 NP_002550 P56373 P2RX3_HUMAN purinergic receptor P2X3 394 Cytoplasmic (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 GGGGCCTTCTCCATAGGCCAC 0.612 NaN NaN NaN NaN NaN NaN 14 63 --- --- OR11H12 440153 broad.mit.edu 37 14 19377902 19377903 + Frame_Shift_Ins INS - - A TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr14:19377902_19377903insA uc010tkp.1 + 1 309_310 c.309_310insA c.(307-312)GAGAAAfs p.E103fs NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, 103_104 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCCTTTCAGAGAAAAAAAACAT 0.386 NaN NaN NaN NaN NaN NaN 19 140 --- --- GOLGA6B 55889 broad.mit.edu 37 15 72958135 72958136 + Frame_Shift_Del DEL CC CC - TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr15:72958135_72958136delCC uc010uks.1 + 16 1750_1751 c.1709_1710delCC c.(1708-1710)ACCfs p.T570fs uc002aux.1_5'Flank|uc002auy.1_5'Flank NM_018652 NP_061122 A6NDN3 GOG6B_HUMAN golgi autoantigen, golgin subfamily a, 6B 570 Potential. 0 GAGTCCTTCACCGTATATGAAA 0.629 NaN NaN NaN NaN NaN NaN 8 168 --- --- SCAP 22937 broad.mit.edu 37 3 47461048 47461048 + Frame_Shift_Del DEL G G - TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr3:47461048delG uc003crh.1 - 13 1965 c.1710delC c.(1708-1710)CCCfs p.P570fs SCAP_uc011baz.1_Frame_Shift_Del_p.P315fs|SCAP_uc003crg.2_Frame_Shift_Del_p.P178fs NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 570 Lumenal (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CCGGGTGGCTGGGGGGCAGCA 0.657 NaN NaN NaN NaN NaN NaN 11 92 --- --- FAT4 79633 broad.mit.edu 37 4 126412722 126412722 + Frame_Shift_Del DEL C C - TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr4:126412722delC uc003ifj.3 + 17 14745 c.14745delC c.(14743-14745)AACfs p.N4915fs FAT4_uc011cgp.1_Frame_Shift_Del_p.N3156fs|FAT4_uc003ifi.1_Frame_Shift_Del_p.N2392fs NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4915 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CTGCTGACAACACACTGCCCA 0.552 NaN NaN NaN NaN NaN NaN 33 51 --- --- AMACR 23600 broad.mit.edu 37 5 34008088 34008089 + Frame_Shift_Del DEL CG CG - TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr5:34008088_34008089delCG uc003jig.2 - 1 118_119 c.36_37delCG c.(34-39)TCCGGCfs p.S12fs AMACR_uc003jih.2_Frame_Shift_Del_p.S12fs|AMACR_uc003jii.2_Frame_Shift_Del_p.S12fs|AMACR_uc003jij.2_Frame_Shift_Del_p.S12fs|AMACR_uc003jil.1_Frame_Shift_Del_p.S12fs|AMACR_uc003jik.1_Frame_Shift_Del_p.S12fs NM_014324 NP_055139 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase isoform 1 12_13 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity 0 GGGGCCAGGCCGGACAGCTCCA 0.688 NaN NaN NaN NaN NaN NaN 15 71 --- --- LY6G6F 259215 broad.mit.edu 37 6 31675681 31675681 + Frame_Shift_Del DEL C C - TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 803ab221-b813-4bcc-95a9-1f686d172d3c 49028d3a-8afa-4a54-8e26-89e61f95c688 g.chr6:31675681delC uc003nwa.1 + 3 416 c.416delC c.(415-417)TCCfs p.S139fs BAT5_uc011dnz.1_Intron|LY6G6F_uc003nwb.1_Frame_Shift_Del_p.S139fs NM_001003693 NP_001003693 Q5SQ64 LY66F_HUMAN G6f protein precursor 139 Extracellular (Potential). integral to membrane|plasma membrane breast(1)|central_nervous_system(1) 2 GCAGATGGATCCCCCTGCAAT 0.602 NaN NaN NaN NaN NaN NaN 38 121 --- ---