Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut AGRN 375790 broad.mit.edu 37 1 982024 982024 + Silent SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr1:982024G>A uc001ack.1 + 18 3209 c.3159G>A c.(3157-3159)GTG>GTA p.V1053V NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 1053 Ser/Thr-rich. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CCAGCCTGGTGGCGTCCGCCT 0.687 NA 11 10 0 0 0 0 NMNAT1 64802 broad.mit.edu 37 1 10042404 10042404 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr1:10042404C>T uc001aqp.2 + 5 629 c.485C>T c.(484-486)TCC>TTC p.S162F NM_022787 NP_073624 Q9HAN9 NMNA1_HUMAN nicotinamide mononucleotide adenylyltransferase 162 water-soluble vitamin metabolic process nucleoplasm ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding 0 all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419) TTATTGGAGTCCTTTGCTGTT 0.478 NA 24 87 0 0 0 0 ZMYM6 9204 broad.mit.edu 37 1 35476586 35476586 + Nonsense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr1:35476586G>A uc001byh.2 - 9 1342 c.1114C>T c.(1114-1116)CAG>TAG p.Q372* ZMYM6_uc001byf.1_Nonsense_Mutation_p.Q372*|ZMYM6_uc010oht.1_Nonsense_Mutation_p.Q275*|ZMYM6_uc009vup.2_Nonsense_Mutation_p.Q178*|ZMYM6_uc009vuq.1_Nonsense_Mutation_p.Q372*|ZMYM6_uc009vur.1_Nonsense_Mutation_p.Q178* NM_007167 NP_009098 O95789 ZMYM6_HUMAN zinc finger protein 258 372 MYM-type 5. multicellular organismal development nucleus DNA binding|zinc ion binding ovary(3) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) ACTTGGCCCTGAGACAGGGGC 0.488 NA 12 48 0 0 0 0 MYSM1 114803 broad.mit.edu 37 1 59147830 59147830 + Silent SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr1:59147830G>A uc009wab.1 - 8 909 c.886C>T c.(886-888)CTG>TTG p.L296L MYSM1_uc001czc.2_RNA NM_001085487 NP_001078956 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 296 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(1) 1 all_cancers(7;9.36e-06) TCAGTCCACAGTGTAATTTCT 0.363 NA 13 109 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293516 145293516 + Missense_Mutation SNP C C A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr1:145293516C>A uc001end.3 + 1 146 c.111C>A c.(109-111)AAC>AAA p.N37K NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.N37K|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001emq.1_Missense_Mutation_p.N37K NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 37 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGTTCAGAAACCTCAAAGAGA 0.478 NA 6 480 1.59e-06 1.74e-06 1 0 NBPF10 100132406 broad.mit.edu 37 1 145299875 145299875 + Missense_Mutation SNP C C A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr1:145299875C>A uc001end.3 + 6 959 c.924C>A c.(922-924)AAC>AAA p.N308K NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.N308K|NBPF10_uc010oyi.1_5'Flank|NBPF10_uc001emq.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 308 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGTTCAGAAACCTCAAAGAGA 0.458 NA 37 369 6.43e-24 7.81e-24 1 0 ADIPOR1 51094 broad.mit.edu 37 1 202915728 202915728 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr1:202915728C>T uc001gyq.3 - 4 536 c.269G>A c.(268-270)GGA>GAA p.G90E ADIPOR1_uc010pqd.1_Missense_Mutation_p.G14E|ADIPOR1_uc001gyr.3_5'UTR|ADIPOR1_uc001gys.3_Missense_Mutation_p.G90E NM_015999 NP_057083 Q96A54 ADR1_HUMAN adiponectin receptor 1 90 Cytoplasmic (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity 0 BRCA - Breast invasive adenocarcinoma(75;0.141) CCTCCAACGTCCCTCCCAGAC 0.502 NA 9 44 0 0 0 0 OBSCN 84033 broad.mit.edu 37 1 228557643 228557643 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr1:228557643C>G uc009xez.1 + 91 20012 c.19968C>G c.(19966-19968)AGC>AGG p.S6656R OBSCN_uc001hsr.1_Missense_Mutation_p.S1285R NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 6656 Protein kinase 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CTGTCTTCAGCCTGACCTGCT 0.622 NA 45 36 0 0 0 0 BMI1 648 broad.mit.edu 37 10 22618334 22618334 + Missense_Mutation SNP C C A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr10:22618334C>A uc001irh.2 + 10 1483 c.844C>A c.(844-846)CCT>ACT p.P282T BMI1_uc009xkg.2_Missense_Mutation_p.P425T NM_005180 NP_005171 P35226 BMI1_HUMAN BMI1 polycomb ring finger oncogene 282 Pro/Ser-rich. hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding ovary(1)|skin(1) 2 AGTGCAGTCTCCTCATCCACA 0.507 NA 25 79 2.45e-14 2.92e-14 1 0 ANKRD26 22852 broad.mit.edu 37 10 27326225 27326225 + Missense_Mutation SNP T T A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr10:27326225T>A uc001ith.2 - 23 2756 c.2584A>T c.(2584-2586)AGG>TGG p.R862W ANKRD26_uc001itg.2_Missense_Mutation_p.R549W|ANKRD26_uc009xku.1_Missense_Mutation_p.R863W NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 862 Potential. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 GAAAGTTGCCTCTGAGCGTCA 0.358 NA 42 121 0 0 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702586 27702586 + Silent SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr10:27702586G>A uc001itu.2 - 1 712 c.594C>T c.(592-594)TCC>TCT p.S198S NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 198 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 TCCTGGAGGCGGAGAAGCGGT 0.602 NA 4 131 0 0 0 0 MYOF 26509 broad.mit.edu 37 10 95069804 95069804 + Silent SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr10:95069804G>A uc001kin.2 - 53 6243 c.6120C>T c.(6118-6120)TTC>TTT p.F2040F MYOF_uc001kio.2_Silent_p.F2027F|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 2040 Helical; (Potential). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 GCACGGCCACGAAGAGCAGCA 0.552 NA 5 30 0 0 0 0 GSTO1 9446 broad.mit.edu 37 10 106027062 106027062 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr10:106027062G>A uc001kya.2 + 6 634 c.625G>A c.(625-627)GAT>AAT p.D209N GSTO2_uc001kyb.2_5'Flank NM_004832 NP_004823 P78417 GSTO1_HUMAN glutathione-S-transferase omega 1 209 GST C-terminal. xenobiotic metabolic process cytosol glutathione transferase activity|monodehydroascorbate reductase (NADH) activity 0 Colorectal(252;0.102)|Breast(234;0.122) Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147) Glutathione(DB00143) CATGAAGGAAGATCCCACAGT 0.493 NA 15 30 0 0 0 0 SHOC2 8036 broad.mit.edu 37 10 112724421 112724421 + Nonsense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr10:112724421C>G uc001kzl.3 + 2 654 c.305C>G c.(304-306)TCA>TGA p.S102* SHOC2_uc009xxx.2_Nonsense_Mutation_p.S102*|SHOC2_uc010qrg.1_Intron|SHOC2_uc001kzn.2_Nonsense_Mutation_p.S102* NM_007373 NP_031399 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog 102 LRR 1. fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity ovary(1)|skin(1) 2 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) GAAGAGAATTCAATGCGTTTG 0.383 NA 16 63 0 0 0 0 TRIM68 55128 broad.mit.edu 37 11 4626315 4626315 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr11:4626315C>G uc001lzf.1 - 2 658 c.420G>C c.(418-420)GAG>GAC p.E140D TRIM68_uc001lzg.1_5'UTR|TRIM68_uc010qyj.1_Intron|TRIM68_uc009yek.1_Missense_Mutation_p.E140D NM_018073 NP_060543 Q6AZZ1 TRI68_HUMAN ring finger protein 137 140 protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) TCACCTTGTACTCCCAGGCAA 0.547 NA 5 29 0 0 0 0 KLRC4 8302 broad.mit.edu 37 12 10560266 10560266 + Missense_Mutation SNP T T C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr12:10560266T>C uc001qye.2 - 4 645 c.463A>G c.(463-465)ATC>GTC p.I155V KLRK1_uc001qyc.2_5'UTR|KLRK1_uc009zhk.2_5'UTR|KLRK1_uc001qyd.2_5'UTR NM_013431 NP_038459 O43908 NKG2F_HUMAN killer cell lectin-like receptor subfamily C, 155 Extracellular (Potential). cellular defense response integral to membrane binding|receptor activity 0 AGAAAGCAGATCAGAGTTCTT 0.299 NA 56 109 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49428364 49428364 + Splice_Site SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr12:49428364C>T uc001rta.3 - 36 10440 c.10440_splice c.e36+1 p.Q3480_splice NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TGACCACTTACCTGGCCACTC 0.562 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 4 11 0 0 0 0 KCNH3 23416 broad.mit.edu 37 12 49934900 49934900 + Silent SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr12:49934900C>T uc001ruh.1 + 2 555 c.295C>T c.(295-297)CTG>TTG p.L99L KCNH3_uc010smj.1_Silent_p.L39L NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 99 PAC.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 TGAGCTGATCCTGTACCGGAA 0.622 NA 5 45 0 0 0 0 PA2G4 5036 broad.mit.edu 37 12 56504208 56504208 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr12:56504208G>A uc001sjm.2 + 8 1074 c.655G>A c.(655-657)GAG>AAG p.E219K PA2G4_uc009zol.2_Missense_Mutation_p.E219K|PA2G4_uc009zom.2_Missense_Mutation_p.E219K NM_006191 NP_006182 Q9UQ80 PA2G4_HUMAN ErbB3-binding protein 1 219 cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding 0 OV - Ovarian serous cystadenocarcinoma(18;0.0739) AGCTGAATTTGAGGTACATGA 0.343 NA 7 55 0 0 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72056924 72056924 + Missense_Mutation SNP C C A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr12:72056924C>A uc001swo.2 - 1 826 c.467G>T c.(466-468)CGC>CTC p.R156L ZFC3H1_uc010sts.1_Missense_Mutation_p.R156L|ZFC3H1_uc001swp.2_Missense_Mutation_p.R156L|THAP2_uc001swq.2_5'Flank NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 156 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 CCGACTCCAGCGACTCCCACC 0.667 NA 13 126 0.000308642 0.000324829 1 0 OAS3 4940 broad.mit.edu 37 12 113388618 113388618 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr12:113388618G>A uc001tug.2 + 7 1582 c.1495G>A c.(1495-1497)GAG>AAG p.E499K NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN 2'-5'oligoadenylate synthetase 3 499 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding central_nervous_system(1) 1 GATCCTTGATGAGATGCGAGC 0.572 NA 32 55 0 0 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33017607 33017607 + Missense_Mutation SNP T T A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr13:33017607T>A uc010abe.1 - 7 1089 c.1067A>T c.(1066-1068)TAT>TTT p.Y356F N4BP2L2_uc001uug.2_Missense_Mutation_p.Y239F|N4BP2L2_uc010abd.1_Missense_Mutation_p.Y269F|N4BP2L2_uc001uuh.2_Missense_Mutation_p.Y187F|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.Y341F NM_033111 NP_149102 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 Error:Variant_position_missing_in_Q92802_after_alignment 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) TTTAGTTGTATACACTTGTTC 0.378 NA 6 18 0 0 0 0 MYCBP2 23077 broad.mit.edu 37 13 77751900 77751900 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr13:77751900C>T uc001vkf.2 - 36 5300 c.5209G>A c.(5209-5211)GAG>AAG p.E1737K MYCBP2_uc010aev.2_Missense_Mutation_p.E1141K NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1737 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ACCAACACCTCTAATTCATAT 0.398 NA 20 16 0 0 0 0 FLJ10357 55701 broad.mit.edu 37 14 21543067 21543067 + Missense_Mutation SNP G G T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr14:21543067G>T uc001vzp.2 + 3 1207 c.1178G>T c.(1177-1179)CGA>CTA p.R393L FLJ10357_uc001vzn.1_Missense_Mutation_p.R393L|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 393 Gly-rich. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08) GBM - Glioblastoma multiforme(265;0.0197) GCTCTTAGCCGAGGAGGGGAC 0.607 NA 13 32 2.62e-11 3.1e-11 1 0 LRFN5 145581 broad.mit.edu 37 14 42356226 42356226 + Missense_Mutation SNP A A G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr14:42356226A>G uc001wvm.2 + 3 1596 c.398A>G c.(397-399)AAT>AGT p.N133S LRFN5_uc010ana.2_Missense_Mutation_p.N133S NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 133 Extracellular (Potential).|LRR 4. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CTGAACAACAATCAGCTGACT 0.373 NA HNSCC(30;0.082) 15 47 0 0 0 0 DAAM1 23002 broad.mit.edu 37 14 59798071 59798071 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr14:59798071C>G uc001xdz.1 + 14 1830 c.1705C>G c.(1705-1707)CTC>GTC p.L569V DAAM1_uc001xea.1_Missense_Mutation_p.L569V NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 569 FH1.|Pro-rich. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) accgcctcccctccctccagg 0.453 NA 8 19 0 0 0 0 SPTB 6710 broad.mit.edu 37 14 65242099 65242099 + Missense_Mutation SNP C C A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr14:65242099C>A uc001xht.2 - 22 4640 c.4586G>T c.(4585-4587)GGC>GTC p.G1529V SPTB_uc001xhr.2_Missense_Mutation_p.G1529V|SPTB_uc001xhs.2_Missense_Mutation_p.G1529V|SPTB_uc001xhu.2_Missense_Mutation_p.G1529V|SPTB_uc010aqi.2_Missense_Mutation_p.G190V NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1529 Spectrin 12. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CGGCGTATGGCCCAGAATCTC 0.662 NA 15 13 1.15e-07 1.29e-07 1 0 MAX 4149 broad.mit.edu 37 14 65544653 65544653 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr14:65544653C>G uc001xif.1 - 4 443 c.273G>C c.(271-273)CAG>CAC p.Q91H MAX_uc001xic.1_Intron|MAX_uc001xie.1_Missense_Mutation_p.Q91H|MAX_uc010aql.1_Intron|MAX_uc001xig.1_Missense_Mutation_p.Q82H|MAX_uc001xih.1_RNA|MAX_uc001xii.1_Missense_Mutation_p.Q82H|MAX_uc001xij.1_Missense_Mutation_p.Q91H NM_002382 NP_002373 P61244 MAX_HUMAN MAX protein isoform a 91 Leucine-zipper. transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity lung(1) 1 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) GAAGAGCATTCTGCCGCTTGA 0.567 NA 18 32 0 0 0 0 SLC12A6 9990 broad.mit.edu 37 15 34628812 34628812 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr15:34628812C>G uc001zhw.2 - 1 234 c.70G>C c.(70-72)GAC>CAC p.D24H SLC12A6_uc001zhx.2_Missense_Mutation_p.D24H|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Intron|SLC12A6_uc001zib.2_Missense_Mutation_p.D15H|SLC12A6_uc001zic.2_Missense_Mutation_p.D24H|SLC12A6_uc010bau.2_Missense_Mutation_p.D24H|SLC12A6_uc001zid.2_Intron NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 24 Cytoplasmic (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CCTGGAATGTCATCGATCTTT 0.488 NA 14 21 0 0 0 0 PRSS22 64063 broad.mit.edu 37 16 2905798 2905798 + Silent SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:2905798C>T uc002cry.1 - 4 402 c.336G>A c.(334-336)GGG>GGA p.G112G PRSS22_uc002crz.1_Intron NM_022119 NP_071402 Q9GZN4 BSSP4_HUMAN protease, serine, 22 precursor 112 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1) 1 AGCCAGGGTTCCCCAGCTGCC 0.617 NA 6 28 0 0 0 0 COG7 91949 broad.mit.edu 37 16 23444886 23444886 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:23444886G>C uc002dlo.2 - 6 978 c.790C>G c.(790-792)CAA>GAA p.Q264E NM_153603 NP_705831 P83436 COG7_HUMAN component of oligomeric golgi complex 7 264 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 GBM - Glioblastoma multiforme(48;0.0401) CACTGGATTTGTGTGTGCCAA 0.547 NA 3 40 0 0 0 0 GTF3C1 2975 broad.mit.edu 37 16 27472703 27472703 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:27472703C>T uc002dov.1 - 37 6338 c.6298G>A c.(6298-6300)GAG>AAG p.E2100K GTF3C1_uc002dou.2_Missense_Mutation_p.E2075K NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 2100 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 CAGTTGACCTCGTGGGGGAAC 0.652 NA 10 40 0 0 0 0 ZNF768 79724 broad.mit.edu 37 16 30537124 30537124 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:30537124C>T uc002dyk.3 - 2 513 c.337G>A c.(337-339)GAG>AAG p.E113K ZNF768_uc010vex.1_Missense_Mutation_p.E82K|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.E82K NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN zinc finger protein 768 113 Pro-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding 0 GATTCAAACTCAGGGCTCTGA 0.587 NA 14 60 0 0 0 0 ZNF768 79724 broad.mit.edu 37 16 30537662 30537662 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:30537662C>G uc002dyk.3 - 1 249 c.73G>C c.(73-75)GAA>CAA p.E25Q ZNF768_uc010vex.1_Intron|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Intron NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN zinc finger protein 768 25 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding 0 AGGTACCCTTCGGGGCTCCTC 0.711 NA 4 22 0 0 0 0 ZNF768 79724 broad.mit.edu 37 16 30537672 30537672 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:30537672C>T uc002dyk.3 - 1 239 c.63G>A c.(61-63)ATG>ATA p.M21I ZNF768_uc010vex.1_Intron|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Intron NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN zinc finger protein 768 21 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding 0 CGGGGCTCCTCATTTCGTCAG 0.701 NA 5 23 0 0 0 0 MMP2 4313 broad.mit.edu 37 16 55523685 55523685 + Missense_Mutation SNP A A G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:55523685A>G uc002ehz.3 + 7 1440 c.1129A>G c.(1129-1131)ACC>GCC p.T377A MMP2_uc010vhd.1_Missense_Mutation_p.T301A|MMP2_uc010ccc.2_Missense_Mutation_p.T327A NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 377 Fibronectin type-II 3.|Collagen-binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) GTGGTGTGCGACCACAGCCAA 0.592 NA 8 56 0 0 0 0 DYNLRB2 83657 broad.mit.edu 37 16 80583380 80583380 + Splice_Site SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:80583380G>C uc002ffo.2 + 5 200 c.80_splice c.e5-1 p.G27_splice DYNLRB2_uc002ffp.2_Splice_Site|DYNLRB2_uc002ffq.2_RNA NM_130897 NP_570967 Q8TF09 DLRB2_HUMAN dynein, light chain, roadblock-type 2 microtubule-based movement|transport cytoplasmic dynein complex|microtubule microtubule motor activity 0 TTTCATAATAGGTATTCCCAT 0.338 NA 4 20 0 0 0 0 KIAA0664 23277 broad.mit.edu 37 17 2604528 2604528 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:2604528C>T uc002fuy.1 - 7 903 c.817G>A c.(817-819)GCC>ACC p.A273T KIAA0664_uc002fux.1_Missense_Mutation_p.A205T NM_015229 NP_056044 O75153 K0664_HUMAN hypothetical protein LOC23277 273 binding breast(2) 2 CGGGGGCTGGCGGGCTTGGGG 0.622 NA 5 17 0 0 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4455195 4455195 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:4455195C>T uc002fyb.3 - 8 1065 c.1003G>A c.(1003-1005)GAG>AAG p.E335K MYBBP1A_uc002fxz.3_Missense_Mutation_p.E335K NM_014520 NP_055335 Q9BQG0 MBB1A_HUMAN MYB binding protein 1a isoform 2 335 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding ovary(1)|skin(1) 2 CACACGTGCTCCCCGTAATGG 0.627 NA 6 74 0 0 0 0 MINK1 50488 broad.mit.edu 37 17 4789867 4789867 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:4789867C>T uc010vsl.1 + 10 1091 c.895C>T c.(895-897)CGC>TGC p.R299C MINK1_uc010vsk.1_Missense_Mutation_p.R299C|MINK1_uc010vsm.1_Missense_Mutation_p.R299C|MINK1_uc010vsn.1_Missense_Mutation_p.R299C|MINK1_uc010vso.1_Missense_Mutation_p.R244C|MINK1_uc010vsp.1_5'UTR NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 isoform 3 299 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1) 6 GCGGCAGGTCCGCATCCAGCT 0.602 NA 20 46 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:7577548C>T uc002gim.2 - 7 927 c.733G>A c.(733-735)GGC>AGC p.G245S TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGTTCATGCCGCCCATGCAG 0.577 G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 15 21 0 0 0 0 PHF12 57649 broad.mit.edu 37 17 27248731 27248731 + Missense_Mutation SNP C C A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:27248731C>A uc002hdg.1 - 5 1341 c.811G>T c.(811-813)GTC>TTC p.V271F PHF12_uc010wbb.1_Missense_Mutation_p.V253F|PHF12_uc002hdi.1_Missense_Mutation_p.V267F|PHF12_uc002hdj.1_Missense_Mutation_p.V271F|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdh.1_Missense_Mutation_p.V54F NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN PHD finger protein 12 isoform 1 271 PHD-type 2; atypical.|Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding ovary(1) 1 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) CAGACTTTGACGGGTAAGGGA 0.408 NA 29 73 2.71e-09 3.16e-09 1 0 MYO1D 4642 broad.mit.edu 37 17 31094761 31094761 + Missense_Mutation SNP T T C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:31094761T>C uc002hho.1 - 7 736 c.724A>G c.(724-726)AAT>GAT p.N242D MYO1D_uc002hhp.1_Missense_Mutation_p.N242D|MYO1D_uc010wcb.1_Missense_Mutation_p.N242D NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 242 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) GCAGCATCATTGATAGAAGAC 0.353 NA 24 39 0 0 0 0 RFFL 117584 broad.mit.edu 37 17 33353416 33353416 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:33353416G>C uc002hin.1 - 2 330 c.157C>G c.(157-159)CAC>GAC p.H53D RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Missense_Mutation_p.H53D|RFFL_uc010cti.1_Missense_Mutation_p.H59D|RFFL_uc002hip.1_Missense_Mutation_p.H53D|RFFL_uc002hio.1_Missense_Mutation_p.H53D NM_001017368 NP_001017368 Q8WZ73 RFFL_HUMAN rififylin 53 FYVE-type. apoptosis membrane ligase activity|zinc ion binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) TTTGCAAAGTGAGCCCCACAG 0.597 NA 6 24 0 0 0 0 CCL23 6368 broad.mit.edu 37 17 34340266 34340266 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:34340266C>T uc002hkt.1 - 4 405 c.334G>A c.(334-336)GAC>AAC p.D112N CCL23_uc002hks.1_Missense_Mutation_p.D129N NM_145898 NP_665905 P55773 CCL23_HUMAN small inducible cytokine A23 isoform CKbeta8 112 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation extracellular space chemokine activity|heparin binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) Treprostinil(DB00374) ATCCGTGTGTCCAGCTTCAGC 0.498 NA 6 33 0 0 0 0 TEX2 55852 broad.mit.edu 37 17 62248511 62248511 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:62248511C>G uc002jec.2 - 7 2793 c.2620G>C c.(2620-2622)GTG>CTG p.V874L TEX2_uc002jed.2_Missense_Mutation_p.V881L|TEX2_uc002jee.2_Missense_Mutation_p.V874L NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 874 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) GGCACAGCCACGCCCATGTCA 0.448 NA 5 35 0 0 0 0 RFNG 5986 broad.mit.edu 37 17 80007651 80007651 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:80007651C>T uc002kdj.2 - 6 738 c.730G>A c.(730-732)GTG>ATG p.V244M RFNG_uc002kdh.2_Missense_Mutation_p.V29M|GPS1_uc002kdk.1_5'Flank|GPS1_uc002kdl.1_5'Flank|GPS1_uc010dij.1_5'Flank|GPS1_uc002kdm.1_5'Flank|GPS1_uc002kdn.1_5'Flank|GPS1_uc002kdo.1_5'Flank|GPS1_uc010wvh.1_5'Flank NM_002917 NP_002908 Q9Y644 RFNG_HUMAN radical fringe 244 Lumenal (Potential). cell differentiation|nervous system development|organ morphogenesis|pattern specification process extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) AGCCCCTCCACGATGTAGCCA 0.667 NA 7 18 0 0 0 0 CCDC57 284001 broad.mit.edu 37 17 80129690 80129690 + Missense_Mutation SNP T T C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:80129690T>C uc002kdz.1 - 13 2124 c.1769A>G c.(1768-1770)AAG>AGG p.K590R CCDC57_uc002kdx.1_Missense_Mutation_p.K590R|CCDC57_uc010dik.1_Missense_Mutation_p.K98R NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 590 Potential. ovary(2) 2 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) AAACTTATGCTTTAGAGTTCG 0.448 NA 19 68 0 0 0 0 PTPN2 5771 broad.mit.edu 37 18 12817283 12817283 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr18:12817283G>A uc002krp.2 - 6 771 c.577C>T c.(577-579)CTC>TTC p.L193F PTPN2_uc002krl.2_Missense_Mutation_p.L193F|PTPN2_uc002krn.2_Missense_Mutation_p.L216F|PTPN2_uc002kro.2_Missense_Mutation_p.L193F|PTPN2_uc002krm.2_Missense_Mutation_p.L193F NM_002828 NP_002819 P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 193 Tyrosine-protein phosphatase. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway endoplasmic reticulum|nucleoplasm protein binding skin(2) 2 Lung NSC(161;8.94e-06) AAGAAATTGAGAAATGAAGCT 0.453 NA 19 64 0 0 0 0 CHST9 83539 broad.mit.edu 37 18 24497019 24497019 + Missense_Mutation SNP C C A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr18:24497019C>A uc002kwd.2 - 5 734 c.536G>T c.(535-537)AGG>ATG p.R179M C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Missense_Mutation_p.R94M|CHST9_uc002kwe.2_Missense_Mutation_p.R179M NM_031422 NP_113610 Q7L1S5 CHST9_HUMAN GalNAc-4-sulfotransferase 2 179 Lumenal (Potential). carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity ovary(2)|skin(1) 3 all_lung(6;0.0145)|Ovarian(20;0.124) AAGGAAAGACCTTCGTTTCTC 0.383 NA 17 82 1.15e-07 1.29e-07 1 0 HNRNPL 3191 broad.mit.edu 37 19 39329127 39329127 + Silent SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr19:39329127C>T uc010xul.1 - 10 1478 c.1467G>A c.(1465-1467)GAG>GAA p.E489E HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Silent_p.E145E|HNRNPL_uc002ojo.1_Silent_p.E67E|HNRNPL_uc002ojk.2_Silent_p.E145E|HNRNPL_uc002ojl.2_Silent_p.E145E|HNRNPL_uc010xum.1_Silent_p.E356E NM_001533 NP_001524 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 489 nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) TGGCTGCCTGCTCTGGGGTGG 0.572 NA 5 21 0 0 0 0 HNRNPUL1 11100 broad.mit.edu 37 19 41807560 41807560 + Silent SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr19:41807560C>T uc002oqb.3 + 11 1927 c.1638C>T c.(1636-1638)ACC>ACT p.T546T CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.T446T|HNRNPUL1_uc002oqa.3_Silent_p.T446T|HNRNPUL1_uc010ehm.2_Silent_p.T546T|HNRNPUL1_uc002oqc.3_Silent_p.T432T|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Silent_p.T446T|HNRNPUL1_uc010ehn.2_Silent_p.T446T|HNRNPUL1_uc010eho.2_Silent_p.T446T|HNRNPUL1_uc010xvy.1_Silent_p.T446T|HNRNPUL1_uc010ehp.2_Silent_p.T402T|HNRNPUL1_uc002oqf.3_5'Flank NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 546 Necessary for interaction with TP53.|Necessary for interaction with BRD7 and transcriptional activation. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 TAAAGCGAACCGACGAGGAAG 0.483 NA 9 53 0 0 0 0 NT5C1B 93034 broad.mit.edu 37 2 18767631 18767631 + Silent SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr2:18767631C>T uc002rcz.2 - 4 431 c.327G>A c.(325-327)AAG>AAA p.K109K NT5C1B_uc002rcy.2_Silent_p.K109K|NT5C1B_uc010exr.2_Silent_p.K49K|NT5C1B_uc010yju.1_Silent_p.K49K|NT5C1B_uc002rda.2_Silent_p.K49K|NT5C1B_uc010yjv.1_Silent_p.K126K|NT5C1B_uc010yjw.1_Silent_p.K92K|NT5C1B_uc010exs.2_Silent_p.K109K|NT5C1B_uc002rdb.1_5'Flank NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 109 Ser-rich. purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GAGAGTCTGTCTTCCGCAGTG 0.498 NA 6 46 0 0 0 0 HADHA 3030 broad.mit.edu 37 2 26438045 26438045 + Splice_Site SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr2:26438045C>T uc002rgy.2 - 8 807 c.677_splice c.e8-1 p.G226_splice HADHA_uc010yks.1_Splice_Site_p.G139_splice|HADHA_uc010ykt.1_Splice_Site_p.G139_splice NM_000182 NP_000173 P40939 ECHA_HUMAN mitochondrial trifunctional protein, alpha fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) AGTCCTGGTCCTATAAAAATG 0.438 NA 23 105 0 0 0 0 ALK 238 broad.mit.edu 37 2 29456500 29456500 + Silent SNP A A T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr2:29456500A>T uc002rmy.2 - 14 3325 c.2418T>A c.(2416-2418)CGT>CGA p.R806R NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 806 Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TTCTGTTCACACGGATTTCTT 0.488 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 26 70 0 0 0 0 ALMS1 7840 broad.mit.edu 37 2 73717132 73717132 + Silent SNP A A G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr2:73717132A>G uc002sje.1 + 12 8160 c.8049A>G c.(8047-8049)GAA>GAG p.E2683E ALMS1_uc002sjf.1_Silent_p.E2639E|ALMS1_uc002sjg.2_Silent_p.E2069E|ALMS1_uc002sjh.1_Silent_p.E2069E NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2681 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GGCTGTCAGAATTAGTAGAAC 0.403 NA 24 143 0 0 0 0 SLC9A2 6549 broad.mit.edu 37 2 103321047 103321047 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr2:103321047G>C uc002tca.2 + 10 2032 c.1890G>C c.(1888-1890)GAG>GAC p.E630D NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 630 Cytoplasmic (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 ACACAAGTGAGAGACAAGCCA 0.428 NA 5 28 0 0 0 0 GCC2 9648 broad.mit.edu 37 2 109088215 109088215 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr2:109088215G>C uc002tec.2 + 6 2584 c.2430G>C c.(2428-2430)GAG>GAC p.E810D GCC2_uc002ted.2_Missense_Mutation_p.E709D NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 810 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 AAGTATTAGAGTTAGAAAAAG 0.363 NA 18 55 0 0 0 0 SEC23B 10483 broad.mit.edu 37 20 18511339 18511339 + Missense_Mutation SNP G G T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr20:18511339G>T uc002wqz.1 + 10 1568 c.1125G>T c.(1123-1125)ATG>ATT p.M375I SEC23B_uc002wra.1_Missense_Mutation_p.M375I|SEC23B_uc002wrb.1_Missense_Mutation_p.M375I|SEC23B_uc010zsb.1_Missense_Mutation_p.M357I|SEC23B_uc002wrc.1_Missense_Mutation_p.M375I NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B 375 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 ACATGGTAATGGGAGATTCTT 0.343 NA 6 73 1.07e-07 1.21e-07 1 0 NDRG3 57446 broad.mit.edu 37 20 35293461 35293461 + Silent SNP T T G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr20:35293461T>G uc002xfw.2 - 12 880 c.798A>C c.(796-798)GCA>GCC p.A266A NDRG3_uc002xfx.2_Silent_p.A254A|NDRG3_uc010zvq.1_Silent_p.A171A|NDRG3_uc010zvr.1_Silent_p.A154A NM_032013 NP_114402 Q9UGV2 NDRG3_HUMAN N-myc downstream regulated gene 3 isoform a 266 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm ovary(1) 1 Myeloproliferative disorder(115;0.00878) CAGCCTCAACTGCAGGCGAAT 0.358 NA 46 93 0 0 0 0 C20orf132 140699 broad.mit.edu 37 20 35757571 35757571 + Splice_Site SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr20:35757571C>G uc010zvu.1 - 16 1771 c.1680_splice c.e16-1 p.R560_splice C20orf132_uc002xgk.2_Splice_Site_p.R182_splice|C20orf132_uc002xgm.2_Intron|C20orf132_uc002xgn.2_Intron NM_152503 NP_689716 Q9H579 CT132_HUMAN hypothetical protein LOC140699 isoform 1 0 Myeloproliferative disorder(115;0.00878) AGCCAGGTGCCTGGAAATCCC 0.512 NA 10 14 0 0 0 0 CHD6 84181 broad.mit.edu 37 20 40040857 40040857 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr20:40040857G>C uc002xka.1 - 36 7356 c.7178C>G c.(7177-7179)CCT>CGT p.P2393R CHD6_uc002xjz.1_5'UTR NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2393 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) TAATTTTCCAGGTTCTTTACA 0.488 NA 11 70 0 0 0 0 LMCD1 29995 broad.mit.edu 37 3 8579047 8579047 + Missense_Mutation SNP A A G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:8579047A>G uc003bqq.2 + 3 422 c.308A>G c.(307-309)AAC>AGC p.N103S LMCD1_uc011atd.1_Missense_Mutation_p.N30S|LMCD1_uc011ate.1_Intron|LMCD1_uc011atf.1_Missense_Mutation_p.N30S NM_014583 NP_055398 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 103 PET. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(96;0.124) ATCATGACCAACCCTATTGCT 0.552 NA 10 138 0 0 0 0 ZNF445 353274 broad.mit.edu 37 3 44488834 44488834 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:44488834G>C uc003cnf.2 - 8 2677 c.2329C>G c.(2329-2331)CTC>GTC p.L777V ZNF445_uc011azv.1_Missense_Mutation_p.L765V|ZNF445_uc011azw.1_Missense_Mutation_p.L777V NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 777 C2H2-type 8. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) TGGATGAGGAGGAATGAGTGA 0.512 NA 21 20 0 0 0 0 CCDC36 339834 broad.mit.edu 37 3 49293597 49293597 + Missense_Mutation SNP A A G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:49293597A>G uc003cwk.2 + 10 1054 c.667A>G c.(667-669)AAC>GAC p.N223D CCDC36_uc011bck.1_Missense_Mutation_p.N223D NM_178173 NP_835467 Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 223 Potential. ovary(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) AATGAAGTCCAACCTGAAGCA 0.473 NA 34 58 0 0 0 0 BSN 8927 broad.mit.edu 37 3 49699628 49699628 + Missense_Mutation SNP T T G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:49699628T>G uc003cxe.3 + 6 10464 c.10350T>G c.(10348-10350)AGT>AGG p.S3450R NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 3450 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CTGCATACAGTGGGGAGAAGC 0.607 NA 5 36 0 0 0 0 A4GNT 51146 broad.mit.edu 37 3 137843343 137843343 + Silent SNP G G T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:137843343G>T uc003ers.2 - 3 988 c.786C>A c.(784-786)CCC>CCA p.P262P NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 262 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1) 1 GATAGGAGATGGGGTAAAATC 0.483 NA 11 79 0.000151284 0.000162631 1 0 MRPS22 56945 broad.mit.edu 37 3 139067116 139067116 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:139067116G>A uc003etb.2 + 3 462 c.454G>A c.(454-456)GAA>AAA p.E152K MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.E151K|MRPS22_uc003ete.2_Missense_Mutation_p.E111K NM_020191 NP_064576 P82650 RT22_HUMAN mitochondrial ribosomal protein S22 152 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome ovary(2)|skin(1) 3 GGAAGGAACAGAAACAACCAA 0.363 NA 38 73 0 0 0 0 ATR 545 broad.mit.edu 37 3 142168296 142168296 + Missense_Mutation SNP T T C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:142168296T>C uc003eux.3 - 47 8032 c.7910A>G c.(7909-7911)TAT>TGT p.Y2637C XRN1_uc003eus.2_5'Flank|XRN1_uc003eut.2_5'Flank|XRN1_uc003euu.2_5'Flank|XRN1_uc003euw.2_5'Flank|XRN1_uc011bnh.1_5'Flank|ATR_uc003euy.1_3'UTR NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 2637 FATC. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 CCAACCAAGATACATCTGGCA 0.338 NA Other_conserved_DNA_damage_response_genes 15 91 0 0 0 0 SI 6476 broad.mit.edu 37 3 164786949 164786949 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:164786949G>A uc003fei.2 - 4 352 c.290C>T c.(289-291)CCG>CTG p.P97L NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 97 Lumenal.|P-type 1. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTCATTCCACGGCCTCCAGCA 0.373 NA HNSCC(35;0.089) 6 48 0 0 0 0 MASP1 5648 broad.mit.edu 37 3 187003846 187003846 + Splice_Site SNP T T A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:187003846T>A uc003frh.1 - 2 338 c.6_splice c.e2-1 p.R2_splice MASP1_uc003fri.2_Splice_Site_p.R2_splice|MASP1_uc003frj.2_Intron|MASP1_uc003frk.1_Splice_Site_p.R2_splice|MASP1_uc011bse.1_Splice_Site NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) AGCAGCCACCTGAAAGACATG 0.478 NA 13 39 0 0 0 0 ATP13A4 84239 broad.mit.edu 37 3 193175175 193175175 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:193175175G>C uc003ftd.2 - 15 1862 c.1754C>G c.(1753-1755)GCC>GGC p.A585G ATP13A4_uc003fte.1_Missense_Mutation_p.A585G|ATP13A4_uc011bsr.1_Missense_Mutation_p.A56G|ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 585 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TACCTGGCTGGCTGTTCTGCA 0.483 NA 19 281 0 0 0 0 LRCH3 84859 broad.mit.edu 37 3 197585726 197585726 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:197585726G>C uc011bul.1 + 15 1671 c.1666G>C c.(1666-1668)GTG>CTG p.V556L LRCH3_uc003fyj.1_Missense_Mutation_p.V556L|LRCH3_uc011bum.1_Intron|LRCH3_uc011bun.1_Missense_Mutation_p.V402L|LRCH3_uc003fyk.2_Missense_Mutation_p.V151L NM_032773 NP_116162 Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) 556 extracellular region ovary(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) GTTGAATCAAGTGGGCTGTGC 0.453 NA 40 134 0 0 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23830203 23830203 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr4:23830203C>T uc003gqs.2 - 5 697 c.577G>A c.(577-579)GCG>ACG p.A193T PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 193 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) ATACTCTTCGCTTTATTGCTC 0.413 NA 3 87 0 0 0 0 COX18 285521 broad.mit.edu 37 4 73930982 73930982 + Missense_Mutation SNP C C A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr4:73930982C>A uc003hgm.1 - 3 689 c.583G>T c.(583-585)GCA>TCA p.A195S COX18_uc003hgn.1_Missense_Mutation_p.A44S|COX18_uc011cbc.1_Missense_Mutation_p.A195S|COX18_uc010iih.1_Missense_Mutation_p.A195S NM_173827 NP_776188 Q8N8Q8 COX18_HUMAN mitochondrial COX18 precursor 195 protein insertion into mitochondrial membrane|respiratory chain complex IV assembly integral to mitochondrial inner membrane protein transporter activity 0 Breast(15;0.00096) Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GAATGTGCTGCCCCCGTGCTT 0.378 NA 17 30 2.35e-11 2.8e-11 1 0 SEC24B 10427 broad.mit.edu 37 4 110384711 110384711 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr4:110384711C>T uc003hzk.2 + 2 843 c.788C>T c.(787-789)TCA>TTA p.S263L SEC24B_uc003hzl.2_Missense_Mutation_p.S263L|SEC24B_uc011cfp.1_Missense_Mutation_p.S294L|SEC24B_uc011cfq.1_Missense_Mutation_p.S263L|SEC24B_uc011cfr.1_Missense_Mutation_p.S263L NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 263 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CTAACGTGGTCATCTCCAGGC 0.488 NA 20 40 0 0 0 0 RAI14 26064 broad.mit.edu 37 5 34823598 34823598 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr5:34823598G>C uc003jir.2 + 15 1847 c.1651G>C c.(1651-1653)GAG>CAG p.E551Q RAI14_uc010iur.2_Missense_Mutation_p.E522Q|RAI14_uc011coj.1_Missense_Mutation_p.E551Q|RAI14_uc003jis.2_Missense_Mutation_p.E554Q|RAI14_uc003jit.2_Missense_Mutation_p.E551Q|RAI14_uc011cok.1_Missense_Mutation_p.E543Q NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 551 Potential. cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) aagaaataaagagaaagtgag 0.274 NA 3 44 0 0 0 0 RASA1 5921 broad.mit.edu 37 5 86670020 86670020 + Missense_Mutation SNP T T A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr5:86670020T>A uc003kiw.2 + 14 1935 c.1817T>A c.(1816-1818)CTC>CAC p.L606H RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.L429H|RASA1_uc011ctv.1_Missense_Mutation_p.L439H|RASA1_uc011ctw.1_Missense_Mutation_p.L440H|RASA1_uc010jaw.2_Missense_Mutation_p.L428H NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 606 C2. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) GCCCATAAACTCCCAGTAAAA 0.333 NA 7 11 0 0 0 0 RAD50 10111 broad.mit.edu 37 5 131915747 131915747 + Missense_Mutation SNP G G T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr5:131915747G>T uc003kxi.2 + 5 1132 c.745G>T c.(745-747)GAT>TAT p.D249Y RAD50_uc003kxg.1_Missense_Mutation_p.D150Y|RAD50_uc003kxh.2_Missense_Mutation_p.D110Y NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 249 Potential. DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GAATGAACTTGATCCATTGAA 0.209 NA Homologous_recombination 8 45 5.18e-06 5.63e-06 1 0 SIL1 64374 broad.mit.edu 37 5 138362615 138362615 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr5:138362615G>C uc003ldm.2 - 5 537 c.520C>G c.(520-522)CTG>GTG p.L174V SIL1_uc003ldn.2_Missense_Mutation_p.L173V|SIL1_uc003ldo.2_Missense_Mutation_p.L174V|SIL1_uc003ldp.2_Missense_Mutation_p.L174V|SIL1_uc003ldq.1_Intron NM_022464 NP_071909 Q9H173 SIL1_HUMAN SIL1 protein precursor 174 Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity). intracellular protein transport|protein folding|transmembrane transport endoplasmic reticulum lumen unfolded protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ACAACATTCAGCTCATCAAAG 0.468 NA Marinesco-Sj_gren_syndrome 9 40 0 0 0 0 HIVEP1 3096 broad.mit.edu 37 6 12125603 12125603 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr6:12125603G>A uc003nac.2 + 4 5754 c.5575G>A c.(5575-5577)GAA>AAA p.E1859K HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1859 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GCAGGAATTTGAAAACATCAA 0.338 NA 37 44 0 0 0 0 ABCF1 23 broad.mit.edu 37 6 30547713 30547713 + Silent SNP A A G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr6:30547713A>G uc003nql.2 + 7 590 c.495A>G c.(493-495)GTA>GTG p.V165V ABCF1_uc003nqk.2_Silent_p.V166V|ABCF1_uc003nqm.2_Silent_p.V165V|ABCF1_uc010jsb.2_Intron NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F, member 1 165 Glu-rich. inflammatory response|translational initiation nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding ovary(2) 2 TCCAGGCCGTATCTGAGGAAC 0.433 NA 7 8 0 0 0 0 MUC21 394263 broad.mit.edu 37 6 30954739 30954739 + Missense_Mutation SNP A A C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr6:30954739A>C uc003nsh.2 + 2 1038 c.787A>C c.(787-789)ACC>CCC p.T263P MUC21_uc003nsi.1_RNA NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN mucin 21 precursor 263 Ser-rich.|16.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|skin(1) 2 GTCCAGCACGACCTCCAGTGG 0.632 NA 9 177 0 0 0 0 COL21A1 81578 broad.mit.edu 37 6 55922598 55922598 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr6:55922598C>G uc003pcs.2 - 30 2963 c.2731G>C c.(2731-2733)GAC>CAC p.D911H COL21A1_uc010jzz.2_Missense_Mutation_p.D296H|COL21A1_uc011dxg.1_Missense_Mutation_p.D284H|COL21A1_uc011dxh.1_Missense_Mutation_p.D262H|COL21A1_uc003pcr.2_Missense_Mutation_p.D268H NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 911 cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) AGACCTGGGTCTCCTGGAGGA 0.498 NA 8 11 0 0 0 0 ECT2L 345930 broad.mit.edu 37 6 139223693 139223693 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr6:139223693G>A uc003qif.1 + 20 2747 c.2644G>A c.(2644-2646)GAA>AAA p.E882K ECT2L_uc011edq.1_Missense_Mutation_p.E736K NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 882 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 TTGTGCTACAGAAATAGAGGA 0.368 NA 12 37 0 0 0 0 RGS17 26575 broad.mit.edu 37 6 153347672 153347672 + Silent SNP A A T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr6:153347672A>T uc003qpm.2 - 3 282 c.126T>A c.(124-126)ACT>ACA p.T42T NM_012419 NP_036551 Q9UGC6 RGS17_HUMAN regulator of G-protein signalling 17 42 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane GTPase activator activity|signal transducer activity pancreas(1) 1 Ovarian(120;0.126) OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429) CATTCCTCACAGTGAGGCTGT 0.403 NA Lung_Cancer_Familial_Clustering_of 26 59 0 0 0 0 ITGB8 3696 broad.mit.edu 37 7 20441678 20441678 + Missense_Mutation SNP G G T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:20441678G>T uc003suu.2 + 10 2321 c.1616G>T c.(1615-1617)GGA>GTA p.G539V ITGB8_uc011jyh.1_Missense_Mutation_p.G404V NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 539 Cysteine-rich tandem repeats.|II.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 ATTAAGCTTGGAAAAGTGTAT 0.388 NA 28 101 5.77e-19 6.92e-19 1 0 PURB 5814 broad.mit.edu 37 7 44924293 44924294 + Missense_Mutation DNP GC GC AA TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:44924293_44924294GC>AA uc003tme.2 - 1 667_668 c.654_655GC>TT c.(652-657)GAGCTC>GATTTC p.218_219EL>DF NM_033224 NP_150093 Q96QR8 PURB_HUMAN purine-rich element binding protein B 218_219 Gly-rich.|By similarity. regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding 0 CCCTCCGGGAGCTCTCCATACA 0.48 NA 15 50 0 0 0 0 FZD1 8321 broad.mit.edu 37 7 90895177 90895177 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:90895177G>C uc003ula.2 + 1 1395 c.982G>C c.(982-984)GTG>CTG p.V328L NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 328 Helical; Name=1; (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CATTTGGTCAGTGCTGTGCTG 0.627 NA 15 87 0 0 0 0 TRRAP 8295 broad.mit.edu 37 7 98535316 98535316 + Missense_Mutation SNP A A T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:98535316A>T uc003upp.2 + 30 4486 c.4277A>T c.(4276-4278)CAT>CTT p.H1426L TRRAP_uc011kis.1_Missense_Mutation_p.H1426L|TRRAP_uc003upr.2_Missense_Mutation_p.H1118L NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1426 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ATCCACACACATATGCGACCT 0.413 NA 11 69 0 0 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121636535 121636535 + Missense_Mutation SNP T T C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:121636535T>C uc003vjy.2 + 9 1423 c.1028T>C c.(1027-1029)ATT>ACT p.I343T PTPRZ1_uc003vjz.2_Missense_Mutation_p.I343T NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 343 Extracellular (Potential).|Fibronectin type-III. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 GATACCATGATTGAGAAGTTT 0.408 NA 4 98 0 0 0 0 RNF133 168433 broad.mit.edu 37 7 122338545 122338545 + Missense_Mutation SNP A A C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:122338545A>C uc003vkj.1 - 1 664 c.428T>G c.(427-429)TTT>TGT p.F143C CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN ring finger protein 133 143 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding skin(1) 1 TGCCTGATGAAACATGGGGAA 0.423 NA 32 58 0 0 0 0 KLHDC10 23008 broad.mit.edu 37 7 129761910 129761910 + Missense_Mutation SNP A A G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:129761910A>G uc003vpj.1 + 5 782 c.647A>G c.(646-648)AAT>AGT p.N216S KLHDC10_uc003vpk.1_Missense_Mutation_p.N187S|KLHDC10_uc010lmb.1_Missense_Mutation_p.N113S NM_014997 NP_055812 Q6PID8 KLD10_HUMAN kelch domain containing 10 216 Kelch 2. 0 GCCATCATCAATGGCTCCCTT 0.418 NA 7 32 0 0 0 0 AKR1B1 231 broad.mit.edu 37 7 134135632 134135632 + Missense_Mutation SNP T T C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:134135632T>C uc003vrp.1 - 3 331 c.257A>G c.(256-258)AAG>AGG p.K86R AKR1B1_uc003vrq.1_RNA NM_001628 NP_001619 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 86 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding p.K86K(1) ovary(3) 3 NADH(DB00157)|Sulindac(DB00605) CACCAGGCCCTTCTCATGGTA 0.557 NA 5 26 0 0 0 0 MLL3 58508 broad.mit.edu 37 7 151874913 151874913 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:151874913G>A uc003wla.2 - 38 7844 c.7625C>T c.(7624-7626)TCA>TTA p.S2542L MLL3_uc003wkz.2_Missense_Mutation_p.S1603L|MLL3_uc003wky.2_Missense_Mutation_p.S51L NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2542 Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GCTCTGTGGTGAAAAATGCTG 0.453 NA N medulloblastoma 40 71 0 0 0 0 HTR5A 3361 broad.mit.edu 37 7 154863070 154863070 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:154863070G>A uc003wlu.1 + 1 525 c.461G>A c.(460-462)CGC>CAC p.R154H uc011kvt.1_5'UTR|uc003wlt.2_5'UTR NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 154 Cytoplasmic (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CTCCGCACCCGCAAGTGCGTC 0.617 NA 9 25 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 3087643 3087643 + Nonsense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr8:3087643G>A uc011kwk.1 - 27 4657 c.4267C>T c.(4267-4269)CAG>TAG p.Q1423* CSMD1_uc011kwj.1_Nonsense_Mutation_p.Q815*|CSMD1_uc003wqe.2_Nonsense_Mutation_p.Q579* NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1423 Extracellular (Potential).|Sushi 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCTTGGAGCTGATAGCCAGGG 0.517 NA 10 16 0 0 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814630 106814630 + Nonsense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr8:106814630C>T uc003ymd.2 + 8 2343 c.2320C>T c.(2320-2322)CAA>TAA p.Q774* ZFPM2_uc011lhs.1_Nonsense_Mutation_p.Q505* NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 774 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TACCTCCACTCAAGAACCCAC 0.463 NA 4 27 0 0 0 0 LY6H 4062 broad.mit.edu 37 8 144239772 144239772 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr8:144239772C>G uc011lka.1 - 4 484 c.318G>C c.(316-318)GAG>GAC p.E106D LY6H_uc011lkb.1_Missense_Mutation_p.E127D|LY6H_uc003yxt.2_Missense_Mutation_p.E144D|LY6H_uc011lkc.1_Missense_Mutation_p.E127D NM_002347 NP_002338 O94772 LY6H_HUMAN lymphocyte antigen 6 complex, locus H isoform a 106 nervous system development|organ morphogenesis anchored to membrane|plasma membrane 0 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) ACAAATCCTTCTCGCAGCAGT 0.612 NA 5 49 0 0 0 0 KIAA1432 57589 broad.mit.edu 37 9 5773076 5773076 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr9:5773076G>C uc003zji.2 + 24 3835 c.3742G>C c.(3742-3744)GAC>CAC p.D1248H KIAA1432_uc003zjl.3_Missense_Mutation_p.D1211H|ERMP1_uc011lme.1_Intron NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 1327 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) GGCCTCTACAGACTGGTAAGT 0.443 NA 6 25 0 0 0 0 VCP 7415 broad.mit.edu 37 9 35059698 35059698 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr9:35059698C>T uc003zvy.2 - 14 2185 c.1796G>A c.(1795-1797)CGA>CAA p.R599Q VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.R268Q|VCP_uc010mki.1_Missense_Mutation_p.R554Q NM_007126 NP_009057 P55072 TERA_HUMAN valosin-containing protein 599 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding upper_aerodigestive_tract(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GTTGATGACTCGGTCAGCAGC 0.522 NA 18 87 0 0 0 0 VCP 7415 broad.mit.edu 37 9 35061650 35061650 + Missense_Mutation SNP T T A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr9:35061650T>A uc003zvy.2 - 10 1507 c.1118A>T c.(1117-1119)GAT>GTT p.D373V VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.D42V|VCP_uc010mki.1_Missense_Mutation_p.D328V NM_007126 NP_009057 P55072 TERA_HUMAN valosin-containing protein 373 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding upper_aerodigestive_tract(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TCCTGTAGCATCAGGAATTCC 0.478 NA 11 187 0 0 0 0 SHB 6461 broad.mit.edu 37 9 37948721 37948721 + Silent SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr9:37948721G>A uc004aax.2 - 5 1825 c.1257C>T c.(1255-1257)GAC>GAT p.D419D NM_003028 NP_003019 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein 419 SH2. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|skin(1) 3 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) GGTTCTCGGCGTCTCCTCTGC 0.607 NA 7 107 0 0 0 0 ZNF367 195828 broad.mit.edu 37 9 99150720 99150720 + Silent SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr9:99150720C>T uc004awf.2 - 5 1207 c.852G>A c.(850-852)CAG>CAA p.Q284Q NM_153695 NP_710162 Q7RTV3 ZN367_HUMAN zinc finger protein 367 284 regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0167) TGGGGGTGCGCTGCTCTCTCA 0.438 NA 24 41 0 0 0 0 COQ4 51117 broad.mit.edu 37 9 131088088 131088088 + Silent SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr9:131088088C>G uc004bur.3 + 4 677 c.330C>G c.(328-330)CTC>CTG p.L110L COQ4_uc011max.1_Silent_p.L110L|COQ4_uc004bus.2_Silent_p.L86L|COQ4_uc010mxy.2_Silent_p.L86L NM_016035 NP_057119 Q9Y3A0 COQ4_HUMAN coenzyme Q4 homolog precursor 110 ubiquinone biosynthetic process mitochondrial inner membrane 0 CATCCACCCTCGACCTGGGCA 0.582 NA 13 31 0 0 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212225 26212225 + Missense_Mutation SNP G G T rs140212002 TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:26212225G>T uc004dbr.2 + 2 411 c.262G>T c.(262-264)GGC>TGC p.G88C MAGEB6_uc010ngc.1_5'UTR NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 88 Ser-rich. ovary(3) 3 GGCTGCCAACGGCCAAGATGA 0.542 NA 10 18 2.81e-09 3.26e-09 1 0 MAGEB1 4112 broad.mit.edu 37 X 30268842 30268842 + Nonsense_Mutation SNP G G T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:30268842G>T uc004dcc.2 + 4 552 c.232G>T c.(232-234)GAA>TAA p.E78* MAGEB1_uc004dcd.2_Nonsense_Mutation_p.E78*|MAGEB1_uc004dce.2_Nonsense_Mutation_p.E78* NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 78 0 GTCATGTACCGAATCTGACGA 0.552 NA 5 8 1.24e-05 1.34e-05 1 0 DMD 1756 broad.mit.edu 37 X 31497125 31497125 + Silent SNP T T C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:31497125T>C uc004dda.1 - 58 8887 c.8643A>G c.(8641-8643)CTA>CTG p.L2881L DMD_uc004dcq.1_Silent_p.L152L|DMD_uc004dcr.1_Silent_p.L421L|DMD_uc004dcs.1_Silent_p.L421L|DMD_uc004dct.1_Silent_p.L421L|DMD_uc004dcu.1_Silent_p.L421L|DMD_uc004dcv.1_Silent_p.L421L|DMD_uc004dcw.2_Silent_p.L1537L|DMD_uc004dcx.2_Silent_p.L1540L|DMD_uc004dcz.2_Silent_p.L2758L|DMD_uc004dcy.1_Silent_p.L2877L|DMD_uc004ddb.1_Silent_p.L2873L NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2881 Spectrin 20. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGAGTTTCTCTAGTCCTTCCA 0.428 NA 14 9 0 0 0 0 SMC1A 8243 broad.mit.edu 37 X 53421731 53421731 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:53421731C>G uc004dsg.2 - 19 3009 c.2940G>C c.(2938-2940)GAG>GAC p.E980D SMC1A_uc011moe.1_Missense_Mutation_p.E958D NM_006306 NP_006297 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 980 cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity ovary(5)|central_nervous_system(1) 6 CGTAGTCAATCTCAATGAGGG 0.542 NA 4 26 0 0 0 0 XKRX 402415 broad.mit.edu 37 X 100169656 100169656 + Missense_Mutation SNP C C A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:100169656C>A uc004egn.2 - 3 1626 c.1021G>T c.(1021-1023)GAC>TAC p.D341Y XKRX_uc011mre.1_Missense_Mutation_p.D137Y NM_212559 NP_997724 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, 341 integral to membrane|plasma membrane breast(1) 1 TGCCCTTTGTCGACGAGATCT 0.478 NA 60 66 5.09e-23 6.15e-23 1 0 BCORL1 63035 broad.mit.edu 37 X 129147536 129147536 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:129147536C>T uc004evb.1 + 4 902 c.788C>T c.(787-789)CCG>CTG p.P263L BCORL1_uc010nrd.1_Missense_Mutation_p.P165L NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 263 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 CCAGCGCCACCGTCAGTGCCC 0.627 NA 16 49 0 0 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718314 142718314 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:142718314C>T uc004fbx.2 - 2 987 c.611G>A c.(610-612)CGT>CAT p.R204H SLITRK4_uc004fby.2_Missense_Mutation_p.R204H NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 204 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) TTCAACGACACGGCCAATGTG 0.428 NA 25 54 0 0 0 0 PASD1 139135 broad.mit.edu 37 X 150817138 150817138 + Missense_Mutation SNP A A C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:150817138A>C uc004fev.3 + 9 1013 c.681A>C c.(679-681)GAA>GAC p.E227D NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 227 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TGTACGTTGAACCCgctgctg 0.353 NA 10 74 0 0 0 0 TAZ 6901 broad.mit.edu 37 X 153649016 153649016 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:153649016G>A uc004fkx.2 + 10 1023 c.719G>A c.(718-720)GGG>GAG p.G240E TAZ_uc004fky.2_Missense_Mutation_p.G226E|TAZ_uc004fkz.2_RNA|TAZ_uc004fla.2_Missense_Mutation_p.G210E|TAZ_uc004flb.2_Missense_Mutation_p.G196E|TAZ_uc010nuy.2_Missense_Mutation_p.G244E|TAZ_uc004flc.3_Missense_Mutation_p.G210E NM_000116 NP_000107 Q16635 TAZ_HUMAN tafazzin isoform 1 240 cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTGCTGATCGGGAAGCCCTTC 0.642 NA 18 19 0 0 0 0 F8 2157 broad.mit.edu 37 X 154221234 154221234 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:154221234C>G uc004fmt.2 - 4 749 c.578G>C c.(577-579)GGA>GCA p.G193A F8_uc011mzx.1_Missense_Mutation_p.G158A NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 193 Plastocyanin-like 1.|F5/8 type A 1. G -> R (in HEMA; severe familial). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TAGTAGGGCTCCAATGAGGCC 0.413 NA 3 79 0 0 0 0 BMS1 9790 broad.mit.edu 37 10 43312844 43312846 + In_Frame_Del DEL AAG AAG - TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr10:43312844_43312846delAAG uc001jaj.2 + 15 2840_2842 c.2482_2484delAAG c.(2482-2484)AAGdel p.K829del NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 829 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 GCATTTGGATAAGAAGAGAAAAT 0.34 NA 7 60 --- --- --- --- NA NA NA NA TMEM134 80194 broad.mit.edu 37 11 67232544 67232544 + Frame_Shift_Del DEL T T - TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr11:67232544delT uc001olq.1 - 5 502 c.434delA c.(433-435)GAGfs p.E145fs TMEM134_uc001olp.1_Frame_Shift_Del_p.E136fs|TMEM134_uc001olr.1_Intron|TMEM134_uc001ols.1_RNA|TMEM134_uc001olt.1_RNA NM_025124 NP_079400 Q9H6X4 TM134_HUMAN transmembrane protein 134 isoform a 145 Extracellular (Potential). integral to membrane 0 GGGGGTCGCCTCCAGTCCCAC 0.577 NA 2 4 --- --- --- --- NA NA NA NA ZNF821 55565 broad.mit.edu 37 16 71894083 71894088 + In_Frame_Del DEL CATTTT CATTTT - TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:71894083_71894088delCATTTT uc010vmj.1 - 7 1448_1453 c.1072_1077delAAAATG c.(1072-1077)AAAATGdel p.KM358del ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_In_Frame_Del_p.KM208del|ZNF821_uc002fbf.2_In_Frame_Del_p.KM316del|ZNF821_uc002fbg.3_In_Frame_Del_p.KM208del|ZNF821_uc002fbh.3_In_Frame_Del_p.KM316del|ZNF821_uc002fbi.3_In_Frame_Del_p.KM155del NM_017530 NP_060000 O75541 ZN821_HUMAN zinc finger protein 821 358_359 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ACATCATGTCCATTTTCTCCAGCCTC 0.587 NA 8 55 --- --- --- --- NA NA NA NA NFKBIB 4793 broad.mit.edu 37 19 39399378 39399380 + In_Frame_Del DEL ACG ACG - rs141886159 TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr19:39399378_39399380delACG uc002ojw.2 + 6 1035_1037 c.977_979delACG c.(976-981)TACGAC>TAC p.D328del NFKBIB_uc002ojx.2_3'UTR|NFKBIB_uc002ojy.2_3'UTR NM_002503 NP_002494 Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene 328 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity lung(1)|kidney(1) 2 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CAGGATGAATACGACGACATTGT 0.596 NA 19 65 --- --- --- --- NA NA NA NA TTN 7273 broad.mit.edu 37 2 179459274 179459275 + Frame_Shift_Ins INS - - T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr2:179459274_179459275insT uc010zfg.1 - 245 50466_50467 c.50242_50243insA c.(50242-50244)ATTfs p.I16748fs uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Ins_p.I10443fs|TTN_uc010zfi.1_Frame_Shift_Ins_p.I10376fs|TTN_uc010zfj.1_Frame_Shift_Ins_p.I10251fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17675 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) ATAGTTAATAATTTCTGACCCA 0.391 NA 41 59 --- --- --- --- NA NA NA NA BCLAF1 9774 broad.mit.edu 37 6 136582553 136582553 + Frame_Shift_Del DEL A A - TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr6:136582553delA uc003qgx.1 - 12 2860 c.2607delT c.(2605-2607)TTTfs p.F869fs BCLAF1_uc011edb.1_Frame_Shift_Del_p.F148fs|BCLAF1_uc003qgw.1_Frame_Shift_Del_p.F696fs|BCLAF1_uc003qgy.1_Frame_Shift_Del_p.F818fs|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Frame_Shift_Del_p.F867fs NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 869 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TGCCACGTTGAAAAGTACCAC 0.413 NA 18 256 --- --- --- --- NA NA NA NA