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 NMNAT1 64802 broad.mit.edu 37 1 10032159 10032159 + Missense_Mutation SNP G G C TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr1:10032159G>C ENST00000377205.1 + 2 172 c.28G>C c.(28-30)Gtt>Ctt p.V10L NMNAT1_ENST00000403197.1_Missense_Mutation_p.V10L|NMNAT1_ENST00000492735.1_3'UTR NM_022787.3 NP_073624.2 Q9HAN9 NMNA1_HUMAN nicotinamide nucleotide adenylyltransferase 1 10 water-soluble vitamin metabolic process nucleoplasm ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding large_intestine(2)|lung(2)|stomach(1) 5 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) GACTGAAGTGGTTCTCCTTGC 0.428 79 140 --- --- --- --- MROH9 80133 broad.mit.edu 37 1 170965648 170965648 + Splice_Site SNP G G C TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr1:170965648G>C ENST00000367759.4 + 14 1492 c.1338G>C c.(1336-1338)ttG>ttC p.L446F MROH9_ENST00000367758.3_Splice_Site_p.L446F NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 GGGGCTTTAGGTATGCCCAGG 0.423 4 122 --- --- --- --- ZNF131 7690 broad.mit.edu 37 5 43175082 43175082 + Silent SNP C C T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr5:43175082C>T ENST00000509634.1 + 7 2073 c.1617C>T c.(1615-1617)aaC>aaT p.N539N ZNF131_ENST00000509156.1_Silent_p.N573N|ZNF131_ENST00000399534.1_Silent_p.N573N|ZNF131_ENST00000306938.4_Silent_p.N539N|ZNF131_ENST00000505606.2_Silent_p.N539N|ZNF131_ENST00000509931.1_Intron P52739 ZN131_HUMAN zinc finger protein 131 573 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 AAATCATGAACCAAGAGGAGA 0.488 24 34 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755288 146755288 + Missense_Mutation SNP C C T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr6:146755288C>T ENST00000361719.2 + 9 3411 c.2941C>T c.(2941-2943)Cgc>Tgc p.R981C GRM1_ENST00000282753.1_Missense_Mutation_p.R981C|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 981 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.R981C(1) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGTGCACAGGCGCGTGCCAAG 0.652 48 79 --- --- --- --- ANKIB1 54467 broad.mit.edu 37 7 92027931 92027931 + Missense_Mutation SNP A A G TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr7:92027931A>G ENST00000265742.3 + 20 3314 c.2938A>G c.(2938-2940)Atg>Gtg p.M980V NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 980 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GTTTCATGACATGAACCCTCA 0.483 31 47 --- --- --- --- FBXO24 26261 broad.mit.edu 37 7 100190516 100190516 + Silent SNP T T C TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr7:100190516T>C ENST00000241071.6 + 5 991 c.669T>C c.(667-669)tgT>tgC p.C223C FBXO24_ENST00000468962.1_Silent_p.C211C|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Silent_p.C209C|FBXO24_ENST00000465843.1_Silent_p.C209C|FBXO24_ENST00000427939.2_Silent_p.C261C NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 223 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CCTGTGACTGTGTTGAGGTCT 0.557 21 24 --- --- --- --- OR6V1 346517 broad.mit.edu 37 7 142750093 142750093 + Missense_Mutation SNP T T C TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr7:142750093T>C ENST00000418316.1 + 1 677 c.656T>C c.(655-657)aTa>aCa p.I219T NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) TATGGCTACATAGTGACCACT 0.547 4 169 --- --- --- --- ARFGEF1 10565 broad.mit.edu 37 8 68139818 68139818 + Missense_Mutation SNP T T C TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr8:68139818T>C ENST00000262215.3 - 26 3996 c.3607A>G c.(3607-3609)Aat>Gat p.N1203D ARFGEF1_ENST00000520381.1_Missense_Mutation_p.N657D|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.N41D NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1203 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) ACATCTTCATTAGGATTACAC 0.343 46 52 --- --- --- --- SH2D3C 10044 broad.mit.edu 37 9 130507029 130507029 + Nonsense_Mutation SNP C C T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr9:130507029C>T ENST00000314830.8 - 7 1727 c.1614G>A c.(1612-1614)tgG>tgA p.W538* SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.W470*|SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.W184*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.W380*|SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.W381*|SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.W378* NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 538 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity p.W538C(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGGTCTTGCCCCAGTCCCCTT 0.602 69 129 --- --- --- --- INPP5E 56623 broad.mit.edu 37 9 139329254 139329254 + Missense_Mutation SNP G G A TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr9:139329254G>A ENST00000371712.3 - 2 1276 c.874C>T c.(874-876)Cgc>Tgc p.R292C NM_019892.4 NP_063945.2 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase, 72 kDa 292 cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity NS(1)|endometrium(1)|lung(4)|skin(3) 9 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) GGGAAGTAGCGGGCCAGCTCA 0.682 10 13 --- --- --- --- OR52A1 23538 broad.mit.edu 37 11 5173454 5173454 + Missense_Mutation SNP C C T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr11:5173454C>T ENST00000380367.1 - 2 563 c.146G>A c.(145-147)aGc>aAc p.S49N OR52A1_ENST00000328942.1_Missense_Mutation_p.S49N Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 49 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTTGATGATGCTCAGAAGCAA 0.463 26 40 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529067 5529067 + Missense_Mutation SNP A A C TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr11:5529067A>C ENST00000311659.4 - 2 1869 c.1722T>G c.(1720-1722)aaT>aaG p.N574K HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 574 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGAGGTGGATTTGGGAGAG 0.522 22 26 --- --- --- --- CLEC6A 93978 broad.mit.edu 37 12 8618186 8618186 + Missense_Mutation SNP G G T rs141203382 byFrequency TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr12:8618186G>T ENST00000382073.3 + 4 516 c.330G>T c.(328-330)atG>atT p.M110I NM_001007033.1 NP_001007034.1 Q6EIG7 CLC6A_HUMAN C-type lectin domain family 6, member A 110 C-type lectin. defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1)|large_intestine(2)|lung(7) 10 Lung SC(5;0.184) GTGTTGAGATGGGAGCACATT 0.383 8 69 --- --- --- --- STAB2 55576 broad.mit.edu 37 12 104048409 104048409 + Missense_Mutation SNP A A G TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr12:104048409A>G ENST00000388887.2 + 13 1688 c.1484A>G c.(1483-1485)aAt>aGt p.N495S NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 495 FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 ATTGCTTCCAATGGGCTTCTG 0.393 32 44 --- --- --- --- GLT8D2 83468 broad.mit.edu 37 12 104387275 104387275 + Missense_Mutation SNP G G T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr12:104387275G>T ENST00000360814.4 - 10 1180 c.775C>A c.(775-777)Ctc>Atc p.L259I GLT8D2_ENST00000546436.1_Missense_Mutation_p.L259I|GLT8D2_ENST00000548660.1_Missense_Mutation_p.L259I NM_031302.3 NP_112592.1 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 259 integral to membrane transferase activity, transferring glycosyl groups kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 CTGCTATAGAGGTTTTCCCTA 0.438 3 18 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25488801 25488801 + RNA SNP G G T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr15:25488801G>T ENST00000453082.2 + 0 2332 SNORD115-40_ENST00000606510.1_RNA NR_003343.1 GAAGAGAGGTGATGACTTAAA 0.522 7 468 --- --- --- --- PHKB 5257 broad.mit.edu 37 16 47697603 47697603 + Missense_Mutation SNP A A G TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr16:47697603A>G ENST00000455779.1 + 25 2458 c.2273A>G c.(2272-2274)cAc>cGc p.H758R PHKB_ENST00000323584.5_Missense_Mutation_p.H765R|PHKB_ENST00000566044.1_Missense_Mutation_p.H758R|PHKB_ENST00000299167.8_Missense_Mutation_p.H765R Q93100 KPBB_HUMAN phosphorylase kinase, beta 765 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) GTTTCTGATCACATTGAGAGA 0.328 36 49 --- --- --- --- MBTPS1 8720 broad.mit.edu 37 16 84124506 84124506 + Silent SNP A A T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr16:84124506A>T ENST00000343411.3 - 8 1500 c.1005T>A c.(1003-1005)gcT>gcA p.A335A MBTPS1_ENST00000569770.1_5'UTR NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 335 Serine protease. cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CATTGCCAATAGCAGAAACCA 0.373 11 72 --- --- --- --- CACNA1A 773 broad.mit.edu 37 19 13366064 13366064 + Missense_Mutation SNP T T C TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr19:13366064T>C ENST00000360228.5 - 29 4599 c.4600A>G c.(4600-4602)Att>Gtt p.I1534V CACNA1A_ENST00000573710.2_Missense_Mutation_p.I1535V NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1535 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GCGAAATCAATGCAGGCCCTC 0.617 10 13 --- --- --- --- RNF113A 7737 broad.mit.edu 37 X 119005303 119005303 + Missense_Mutation SNP C C T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chrX:119005303C>T ENST00000371442.2 - 1 488 c.274G>A c.(274-276)Gag>Aag p.E92K NM_006978.2 NP_008909.1 O15541 R113A_HUMAN ring finger protein 113A 92 Poly-Glu. nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6) 15 CTCTCGGGCTCATTTTCCTCT 0.547 116 26 --- --- --- ---