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 pox qox pox_cutoff isArtifactMode oxoGCut C1orf101 257044 broad.mit.edu 37 1 244724433 244724433 + Missense_Mutation SNP A A T TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr1:244724433A>T uc001iam.3 + 9 1552 c.1493A>T c.(1492-1494)cAt>cTt p.H498L C1orf101_uc001iak.1_Missense_Mutation_p.H52L|C1orf101_uc001ial.3_Missense_Mutation_p.H498L|C1orf101_uc010pym.2_Missense_Mutation_p.H347L|C1orf101_uc010pyn.2_Missense_Mutation_p.H431L NM_001130957 NP_001124429 Q5SY80 CA101_HUMAN Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA. 498 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 36 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) AGCATTATTCATGAAGTTTTC 0.328000 6 92 0 0 1 0 0 SPSB3 90864 broad.mit.edu 37 16 1831286 1831286 + Missense_Mutation SNP A A G TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr16:1831286A>G uc010uvm.2 - 1 290 c.199T>C c.(199-201)Tac>Cac p.Y67H NUBP2_uc002cmw.4_5'Flank|NUBP2_uc002cmx.4_5'Flank|SPSB3_uc002cmt.3_Intron|SPSB3_uc002cmu.3_Intron Q6PJ21 SPSB3_HUMAN Homo sapiens splA/ryanodine receptor domain and SOCS box containing 3 (SPSB3), mRNA. 36 intracellular signal transduction endometrium(1)|kidney(4)|lung(3)|prostate(2) 10 GTGTTCAGGTAATGTCTGCCT 0.572000 4 33 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248367157 248367157 + Missense_Mutation SNP C C T TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr1:248367157C>T uc010pzg.2 + 0 788 c.788C>T c.(787-789)aCa>aTa p.T263I NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA. 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATACGGCCCACATCTGATCGC 0.502000 67 125 0 0 1 0 0 ANKRD20A3 441425 broad.mit.edu 37 9 42368593 42368593 + Missense_Mutation SNP T T A TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr9:42368593T>A uc004acd.3 + 0 291 c.179T>A c.(178-180)cTg>cAg p.L60Q ANKRD20A3_uc010mmv.3_Missense_Mutation_p.L60Q NM_001012419 NP_001012421 Q5VUR7 A20A3_HUMAN Homo sapiens ankyrin repeat domain 20 family, member A3 (ANKRD20A3), mRNA. 60 AGCGGAGACCTGGACGCCCTG 0.716000 4 99 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85401117 85401117 + Missense_Mutation SNP G G A TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr15:85401117G>A uc002ble.3 + 5 3921 c.3754G>A c.(3754-3756)Gct>Act p.A1252T NM_020778 NP_065829 Q96L96 ALPK3_HUMAN Homo sapiens alpha-kinase 3 (ALPK3), mRNA. 1252 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) TGAGGTGCAGGCTGGCCGCCA 0.682000 3 27 0 0 1 0 0 C15orf43 145645 broad.mit.edu 37 15 45249168 45249168 + Missense_Mutation SNP A A G TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr15:45249168A>G uc001zuk.3 + 1 153 c.139A>G c.(139-141)Acg>Gcg p.T47A NM_152448 NP_689661 Q8NHR7 CO043_HUMAN Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA. 47 NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2) 8 all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192) all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06) GCACCCAGACACGCTGAGGTA 0.552000 3 62 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142231785 142231785 + Silent SNP A A T TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr8:142231785A>T uc003ywd.1 - 1 476 c.168T>A c.(166-168)tcT>tcA p.S56S SLC45A4_uc003ywc.1_Silent_p.S56S|SLC45A4_uc010meq.1_Silent_p.S54S NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA. 107 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GGTCACTCGCAGACCCAATGA 0.632000 11 88 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 35 58 0 0 1 0 0 IL22 50616 broad.mit.edu 37 12 68646552 68646552 + Missense_Mutation SNP C C T TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr12:68646552C>T uc001sty.1 - 1 297 c.244G>A c.(244-246)Gga>Aga p.G82R IL22_uc010stb.1_Missense_Mutation_p.G82R NM_020525 NP_065386 Q9GZX6 IL22_HUMAN Homo sapiens interleukin 22 (IL22), mRNA. 82 acute-phase response extracellular space cytokine activity|interleukin-22 receptor binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 14 Myeloproliferative disorder(1001;0.0255) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104) ACACTGACTCCGTGGAACAGT 0.498000 4 82 0 0 1 0 0 GALNTL2 117248 broad.mit.edu 37 3 16254129 16254129 + Silent SNP C C T TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr3:16254129C>T uc003car.4 + 5 1726 c.1251C>T c.(1249-1251)caC>caT p.H417H GALNTL2_uc003caq.4_Silent_p.H150H NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA. 417 Catalytic subdomain B. Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1) 33 GGGTAGGACACATCTACCAAA 0.532000 21 43 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146351093 146351093 + Missense_Mutation SNP T T C TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr6:146351093T>C uc010khw.1 + 1 910 c.440T>C c.(439-441)cTc>cCc p.L147P GRM1_uc010khu.1_Missense_Mutation_p.L147P|GRM1_uc010khv.1_Missense_Mutation_p.L147P|GRM1_uc003qll.2_Missense_Mutation_p.L147P|GRM1_uc011edz.1_Missense_Mutation_p.L147P|GRM1_uc011eea.1_Missense_Mutation_p.L147P NM_000838 NP_000829 Q13255 GRM1_HUMAN Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA. 147 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity 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) GGCCAGTCCCTCCCCCCAGGC 0.562000 3 113 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112420872 112420872 + Missense_Mutation SNP G G A TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr5:112420872G>A uc003kql.4 - 8 1950 c.1534C>T c.(1534-1536)Ccc>Tcc p.P512S MCC_uc003kqj.4_Missense_Mutation_p.P322S|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.P322S|MCC_uc010jcd.1_Missense_Mutation_p.P284S NM_001085377 NP_001078846 P23508 CRCM_HUMAN Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA. 322 Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) TTGGCGATGGGAATGTCATTG 0.612000 28 124 0 0 1 0 0 S100A6 6277 broad.mit.edu 37 1 153507784 153507784 + Missense_Mutation SNP A A C TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr1:153507784A>C uc001fbw.1 - 1 346 c.32T>G c.(31-33)cTc>cGc p.L11R NM_014624 NP_055439 P06703 S10A6_HUMAN Homo sapiens S100 calcium binding protein A6 (S100A6), mRNA. 11 axonogenesis|positive regulation of fibroblast proliferation|signal transduction cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle S100 beta binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|tropomyosin binding ovary(1) 1 all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GGCCACGAGGAGGCCAATGGC 0.602000 6 81 0 0 1 0 0 CFD 1675 broad.mit.edu 37 19 860954 860954 + Silent SNP C C A TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr19:860954C>A uc002lqc.3 + 2 331 c.306C>A c.(304-306)ccC>ccA p.P102P NM_001928 NP_001919 P00746 CFAD_HUMAN Homo sapiens complement factor D (adipsin) (CFD), mRNA. 102 Peptidase S1. complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis platelet alpha granule lumen serine-type endopeptidase activity Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGCAGTGCCCCACCCGGACA 0.721000 3 20 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12502822 12502822 + Silent SNP T T C TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr19:12502822T>C uc010dyt.3 - 3 594 c.390A>G c.(388-390)ccA>ccG p.P130P ZNF799_uc002mts.4_Intron NM_001080821 NP_001074290 Q96GE5 ZN799_HUMAN Homo sapiens zinc finger protein 799 (ZNF799), mRNA. 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 GATACTCATATGGTTTGTGCC 0.443000 5 139 0 0 1 0 0 RHPN2 85415 broad.mit.edu 37 19 33493198 33493198 + Missense_Mutation SNP C C A TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr19:33493198C>A uc002nuf.3 - 8 1126 c.1060G>T c.(1060-1062)Gcc>Tcc p.A354S RHPN2_uc010xro.2_Missense_Mutation_p.A203S|RHPN2_uc002nue.3_Missense_Mutation_p.A84S NM_033103 NP_149094 Q8IUC4 RHPN2_HUMAN Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA. 354 BRO1. signal transduction perinuclear region of cytoplasm protein binding p.A353T(2) NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) TGGGCCAGGGCCGCGTAGTGG 0.642000 5 59 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79867160 79867160 + Missense_Mutation SNP G G C TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr9:79867160G>C uc004akr.3 + 21 2440 c.2180G>C c.(2179-2181)tGg>tCg p.W727S VPS13A_uc004akp.4_Missense_Mutation_p.W727S|VPS13A_uc004akq.4_Missense_Mutation_p.W727S|VPS13A_uc004aks.3_Missense_Mutation_p.W727S NM_033305 NP_150648 Q96RL7 VP13A_HUMAN Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA. 727 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GGTGATAATTGGAGAGAAGCA 0.343000 3 104 0 0 1 0 0