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_alt_allele validation_method validation_status validation_tumor_sample TIE1 7075 broad.mit.edu 37 1 43783609 43783609 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr1:43783609C>T ENST00000372476.3 + 17 2867 c.2788C>T c.(2788-2790)Cgg>Tgg p.R930W TIE1_ENST00000433781.2_Missense_Mutation_p.R575W|TIE1_ENST00000473014.1_3'UTR NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 930 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.R930W(2) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGATTTTCTGCGGAAAAGCCG 0.527 28 298 --- --- --- --- ETV3L 440695 broad.mit.edu 37 1 157069117 157069117 + Missense_Mutation SNP G G T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr1:157069117G>T ENST00000454449.2 - 2 396 c.112C>A c.(112-114)Cag>Aag p.Q38K NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 38 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.Q38K(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) AGCTGGATCTGCCGGGAGCCT 0.617 3 56 --- --- --- --- ZNF678 339500 broad.mit.edu 37 1 227842075 227842075 + Nonsense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr1:227842075C>T ENST00000343776.5 + 4 469 c.124C>T c.(124-126)Cag>Tag p.Q42* ZNF678_ENST00000608949.1_Nonsense_Mutation_p.Q42*|ZNF678_ENST00000397097.3_Nonsense_Mutation_p.Q97* NM_178549.3 NP_848644.2 F5GXA7 F5GXA7_HUMAN zinc finger protein 678 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.Q42*(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) TTTGCCAGAGCAGGATATGAA 0.333 11 134 --- --- --- --- LPIN1 23175 broad.mit.edu 37 2 11943067 11943067 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr2:11943067C>T ENST00000256720.2 + 14 1906 c.1813C>T c.(1813-1815)Cgc>Tgc p.R605C LPIN1_ENST00000425416.2_Missense_Mutation_p.R611C|LPIN1_ENST00000404113.2_Missense_Mutation_p.R106C|LPIN1_ENST00000396097.1_Missense_Mutation_p.R335C|LPIN1_ENST00000396099.1_Missense_Mutation_p.R647C|LPIN1_ENST00000449576.2_Missense_Mutation_p.R690C NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 605 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity p.R605C(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) TGATGAGGAGCGCGCAGCTGC 0.498 19 172 --- --- --- --- SNRNP27 11017 broad.mit.edu 37 2 70130361 70130361 + Nonsense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr2:70130361C>T ENST00000244227.3 + 5 822 c.397C>T c.(397-399)Cag>Tag p.Q133* SNRNP27_ENST00000409116.1_Intron|SNRNP27_ENST00000488986.1_3'UTR NM_006857.2 NP_006848.1 Q8WVK2 SNR27_HUMAN small nuclear ribonucleoprotein 27kDa (U4/U6.U5) 133 mRNA processing|RNA splicing nucleus nucleic acid binding p.Q133*(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 11 AAATGTCTCTCAGAAGAGGAA 0.328 10 117 --- --- --- --- ABCF3 55324 broad.mit.edu 37 3 183908945 183908945 + Missense_Mutation SNP A A C rs140615216 TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr3:183908945A>C ENST00000429586.2 + 16 1656 c.1471A>C c.(1471-1473)Att>Ctt p.I491L EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.I485L NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 491 ATP binding|ATPase activity p.I491L(1) breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTCGCCGCCAATTCTGCAGCT 0.557 8 119 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79952234 79952234 + Missense_Mutation SNP C C A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr5:79952234C>A ENST00000265081.6 + 2 322 c.242C>A c.(241-243)aCa>aAa p.T81K NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 81 Interaction with EXO1. maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding p.T81K(1)|p.T72K(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) ATATAGGCTACAGAAATTGAC 0.388 Mismatch excision repair (MMR) 10 140 --- --- --- --- HLA-F 3134 broad.mit.edu 37 6 29694720 29694720 + Missense_Mutation SNP G G A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr6:29694720G>A ENST00000440587.2 + 6 1069 c.710G>A c.(709-711)gGg>gAg p.G237E HLA-F_ENST00000259951.7_Missense_Mutation_p.G366E|HLA-F_ENST00000475996.1_Intron P30511 HLAF_HUMAN major histocompatibility complex, class I, F 0 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity p.G366E(1) cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TTTCTCCTGGGGGTGCTCTTC 0.498 11 132 --- --- --- --- CEP85L 387119 broad.mit.edu 37 6 118790443 118790443 + Silent SNP T T G TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr6:118790443T>G ENST00000368491.3 - 12 2667 c.2046A>C c.(2044-2046)acA>acC p.T682T CEP85L_ENST00000368488.5_Silent_p.T685T NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 682 centrosome p.T682T(1) ATAAAGAGCATGTCTCATCTG 0.413 10 123 --- --- --- --- GSDMD 79792 broad.mit.edu 37 8 144643931 144643931 + Missense_Mutation SNP C C A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr8:144643931C>A ENST00000526406.1 + 10 1639 c.756C>A c.(754-756)agC>agA p.S252R GSDMD_ENST00000533063.1_Missense_Mutation_p.S300R|GSDMD_ENST00000262580.4_Missense_Mutation_p.S252R NM_001166237.1 NP_001159709.1 P57764 GSDMD_HUMAN gasdermin D 252 p.S252R(1) breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 12 GTTCCACGAGCGAAGGCGCCT 0.672 3 15 --- --- --- --- LHX3 8022 broad.mit.edu 37 9 139091593 139091593 + Missense_Mutation SNP C C A rs142521088 TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr9:139091593C>A ENST00000371746.3 - 3 518 c.400G>T c.(400-402)Gac>Tac p.D134Y LHX3_ENST00000371748.5_Missense_Mutation_p.D129Y NM_014564.3 NP_055379.1 Q9UBR4 LHX3_HUMAN LIM homeobox 3 129 LIM zinc-binding 2. inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D134Y(1) large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) TAGAACTCGTCGCCCGTGGCC 0.672 9 38 --- --- --- --- WT1-AS 51352 broad.mit.edu 37 11 32460593 32460593 + RNA SNP T T C TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr11:32460593T>C ENST00000395900.1 + 0 1471 WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000426618.2_RNA NR_023920.1 p.C56R(1) endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 ACCCCGGCGCTGTCCACTGCA 0.617 3 54 --- --- --- --- NTM 50863 broad.mit.edu 37 11 132081914 132081914 + Splice_Site SNP A A C TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr11:132081914A>C ENST00000374786.1 + 3 879 c.e3-1 NTM_ENST00000374784.1_Splice_Site|NTM_ENST00000539799.1_Splice_Site|NTM_ENST00000425719.2_Splice_Site|NTM_ENST00000474900.1_Splice_Site|NTM_ENST00000374791.3_Splice_Site|NTM_ENST00000427481.2_Splice_Site NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin cell adhesion|neuron recognition anchored to membrane|plasma membrane p.?(2) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 TTGTTTCCACAGTATCTCCCA 0.383 4 35 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6686950 6686950 + Splice_Site SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr12:6686950C>T ENST00000309577.6 - 36 5609 c.e36+1 CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.?(3) central_nervous_system(2) 2 CAACCGCTCACCTTAAACCTT 0.463 4 84 --- --- --- --- PLEKHA5 54477 broad.mit.edu 37 12 19511256 19511256 + Missense_Mutation SNP A A G TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr12:19511256A>G ENST00000538714.1 + 23 2913 c.2909A>G c.(2908-2910)cAt>cGt p.H970R PLEKHA5_ENST00000355397.3_Missense_Mutation_p.H970R|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.H670R|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.H894R|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.H912R|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.H901R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.H975R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.H856R|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.H1078R NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 912 P -> S (in Ref. 6; BAA91742). 1-phosphatidylinositol binding|protein binding p.H912R(2)|p.H1073R(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) ATAAGAAGACATCAACAAGCG 0.433 4 36 --- --- --- --- PFKM 5213 broad.mit.edu 37 12 48533667 48533667 + Missense_Mutation SNP T T C TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr12:48533667T>C ENST00000340802.6 + 15 1600 c.1376T>C c.(1375-1377)cTa>cCa p.L459P PFKM_ENST00000551804.1_Missense_Mutation_p.L357P|PFKM_ENST00000395233.2_Missense_Mutation_p.L357P|PFKM_ENST00000547587.1_Missense_Mutation_p.L388P|PFKM_ENST00000359794.5_Missense_Mutation_p.L388P|PFKM_ENST00000312352.7_Missense_Mutation_p.L388P NM_001166686.1 NP_001160158.1 P08237 K6PF_HUMAN phosphofructokinase, muscle 388 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding p.L388P(1) NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 TACAAGCTTCTAGCTCATGTC 0.512 4 37 --- --- --- --- LRIG3 121227 broad.mit.edu 37 12 59282122 59282122 + Missense_Mutation SNP C C G TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr12:59282122C>G ENST00000320743.3 - 7 1222 c.936G>C c.(934-936)aaG>aaC p.K312N LRIG3_ENST00000379141.4_Missense_Mutation_p.K252N NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 312 integral to membrane p.K312N(2) LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) GCTCACTGAGCTTCTGGCAGA 0.493 T ROS1 NSCLC 8 77 --- --- --- --- ZFC3H1 196441 broad.mit.edu 37 12 72036214 72036214 + Splice_Site SNP A A C TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr12:72036214A>C ENST00000378743.3 - 6 1986 c.e6+1 NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing RNA processing intracellular metal ion binding p.?(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TTTGGCTCATACCTGGAGAAC 0.343 7 68 --- --- --- --- ANAPC5 51433 broad.mit.edu 37 12 121746472 121746472 + Missense_Mutation SNP G G T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr12:121746472G>T ENST00000261819.3 - 17 2200 c.2079C>A c.(2077-2079)aaC>aaA p.N693K ANAPC5_ENST00000344395.4_Missense_Mutation_p.N581K|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000441917.2_Missense_Mutation_p.N581K|ANAPC5_ENST00000541887.1_Missense_Mutation_p.N680K|ANAPC5_ENST00000535482.1_Missense_Mutation_p.N359K NM_016237.4 NP_057321.2 Q9UJX4 APC5_HUMAN anaphase promoting complex subunit 5 693 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity p.N693K(2) breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTTCATTGAGGTTCTCGATGG 0.453 7 103 --- --- --- --- COG3 83548 broad.mit.edu 37 13 46066301 46066301 + Missense_Mutation SNP G G T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr13:46066301G>T ENST00000349995.5 + 11 1215 c.1103G>T c.(1102-1104)aGt>aTt p.S368I COG3_ENST00000465942.1_3'UTR NM_031431.3 NP_113619 Q96JB2 COG3_HUMAN component of oligomeric golgi complex 3 368 ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity p.S368I(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1) 24 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) CAGGTTCGTAGTGGCTGTGCC 0.383 3 34 --- --- --- --- PLA2G4F 255189 broad.mit.edu 37 15 42446634 42446634 + Silent SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr15:42446634C>T ENST00000397272.3 - 3 298 c.207G>A c.(205-207)gtG>gtA p.V69V PLA2G4F_ENST00000382396.4_Silent_p.V69V NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 69 C2. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity p.V69V(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GCCACAGTTGCACATAGCAGT 0.597 5 32 --- --- --- --- USH1G 124590 broad.mit.edu 37 17 72915904 72915904 + Missense_Mutation SNP G G A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr17:72915904G>A ENST00000319642.1 - 2 1209 c.1027C>T c.(1027-1029)Cgg>Tgg p.R343W NM_001282489.1|NM_173477.2 NP_001269418.1|NP_775748.2 Q495M9 USH1G_HUMAN Usher syndrome 1G (autosomal recessive) 343 equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton p.R343W(1) HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) AGCCGACCCCGCGGCGCTCCC 0.687 4 84 --- --- --- --- DNAH17 8632 broad.mit.edu 37 17 76459153 76459153 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr17:76459153C>T ENST00000389840.5 - 57 9029 c.8905G>A c.(8905-8907)Gtc>Atc p.V2969I DNAH17_ENST00000585328.1_Missense_Mutation_p.V2978I|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 p.V2978I(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GAGGCCTTGACTTCCCACTAC 0.562 3 27 --- --- --- --- PSG1 5669 broad.mit.edu 37 19 43372318 43372318 + Missense_Mutation SNP A A G rs1058795 TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr19:43372318A>G ENST00000244296.2 - 5 1315 c.1178T>C c.(1177-1179)gTt>gCt p.V393A PSG1_ENST00000436291.2_Missense_Mutation_p.V393A|PSG1_ENST00000403380.3_Missense_Mutation_p.V300A|PSG1_ENST00000595356.1_Missense_Mutation_p.V393A|PSG1_ENST00000595124.1_Missense_Mutation_p.V300A|PSG1_ENST00000312439.6_Missense_Mutation_p.V393A NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) AACAGAGCAAACATAGAGCCC 0.458 6 242 --- --- --- --- LILRA4 23547 broad.mit.edu 37 19 54849889 54849889 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr19:54849889C>T ENST00000291759.4 - 3 189 c.133G>A c.(133-135)Gtg>Atg p.V45M NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 45 Ig-like C2-type 1. integral to membrane receptor activity p.V45M(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CAGATGGTCACGGGGTTATGC 0.537 OREG0003656 type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 98 --- --- --- --- ZNF134 7693 broad.mit.edu 37 19 58132430 58132430 + Missense_Mutation SNP C C T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr19:58132430C>T ENST00000396161.5 + 3 1253 c.943C>T c.(943-945)Cct>Tct p.P315S NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 315 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P315S(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) TGGAGAAAATCCTTATGATTG 0.418 4 104 --- --- --- --- GART 2618 broad.mit.edu 37 21 34903824 34903824 + Nonsense_Mutation SNP C C A TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr21:34903824C>A ENST00000381831.3 - 6 831 c.568G>T c.(568-570)Gaa>Taa p.E190* GART_ENST00000381815.4_Nonsense_Mutation_p.E190*|GART_ENST00000361093.5_Nonsense_Mutation_p.E190*|GART_ENST00000381839.3_Nonsense_Mutation_p.E190*|GART_ENST00000497313.1_5'UTR NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 190 ATP-grasp. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding p.E190*(1) NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) AGAAGTTCTTCAATGACAATT 0.353 16 168 --- --- --- --- MUC3A 4584 broad.mit.edu 37 7 100552898 100552898 + Frame_Shift_Del DEL G G - TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr7:100552898delG ENST00000319509.7 + 2 1543 c.1543delG c.(1543-1545)ggcfs p.G515fs mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TGACAATGGTGGCACCTGGGA 0.567 9 157 --- --- --- --- GSE1 23199 broad.mit.edu 37 16 85701839 85701840 + Frame_Shift_Ins INS - - T TCGA-G9-6356-01A-11D-1786-08 TCGA-G9-6356-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2bdbfc0-d13e-4d0f-904b-05c033a72b77 56d3cf13-362a-4701-850e-bd8cf98ac9a4 g.chr16:85701839_85701840insT ENST00000253458.7 + 14 3400_3401 c.3224_3225insT c.(3223-3228)cctccafs p.P1076fs GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P972fs|GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P1003fs NM_014615.2 NP_055430.1 Gse1 coiled-coil protein AGCCGCGCCCCTCCACCCCAGC 0.639 14 123 --- --- --- ---