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 NFX1 4799 broad.mit.edu 37 9 33294604 33294604 + Missense_Mutation SNP A A G TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr9:33294604A>G uc003zsr.3 + 1 365 c.212A>G c.(211-213)cAt>cGt p.H71R NFX1_uc011lnw.2_Missense_Mutation_p.H71R|NFX1_uc003zso.3_Missense_Mutation_p.H71R|NFX1_uc003zsp.2_Missense_Mutation_p.H71R|NFX1_uc010mjr.2_Missense_Mutation_p.H71R|NFX1_uc003zsq.3_Missense_Mutation_p.H71R NM_002504 NP_002495 Q12986 NFX1_HUMAN Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA. 71 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) GTTCATCAGCATAGTTATCAT 0.453000 7 333 0 0 1 0 0 SERF2 10169 broad.mit.edu 37 15 44085945 44085945 + Missense_Mutation SNP A A T TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr15:44085945A>T uc010bdq.3 + 2 689 c.288A>T c.(286-288)caA>caT p.Q96H ELL3_uc001zsx.1_Intron|SERF2_uc001zsz.4_Missense_Mutation_p.N52Y|SERF2_uc021skb.1_Missense_Mutation_p.N52Y|SERF2_uc010uee.2_Non-coding_Transcript|SERF2_uc021skc.1_Missense_Mutation_p.Q59H|C15orf63_uc001ztb.3_Intron|SERF2_uc021skd.1_Missense_Mutation_p.N38Y|MIR1282_uc021ske.1_Non-coding_Transcript NM_001199875 NP_001186804 P84101 SERF2_HUMAN Homo sapiens small EDRK-rich factor 2 (SERF2), transcript variant 1, mRNA. 0 cytosol|nucleus lung(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) GAAAAAGGCAAACGAGAAGAA 0.572000 5 189 0 0 1 0 0 CARHSP1 23589 broad.mit.edu 37 16 8952307 8952307 + Missense_Mutation SNP G G A TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr16:8952307G>A uc002czh.1 - 2 531 c.181C>T c.(181-183)Ccc>Tcc p.P61S CARHSP1_uc002czi.1_Missense_Mutation_p.P61S NM_001042476 NP_055131 Q9Y2V2 CHSP1_HUMAN Homo sapiens calcium regulated heat stable protein 1, 24kDa (CARHSP1), transcript variant 2, mRNA. 61 intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent P granule|cytoplasmic mRNA processing body|cytosol DNA binding|mRNA 3'-UTR binding|phosphatase binding endometrium(2)|lung(1) 3 TTGTAGACGGGGCCCTGTGAA 0.607000 6 81 0 0 1 0 0 PAWR 5074 broad.mit.edu 37 12 79990400 79990400 + Missense_Mutation SNP T T C TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr12:79990400T>C uc001syx.3 - 4 1008 c.722A>G c.(721-723)tAt>tGt p.Y241C NM_002583 NP_002574 Q96IZ0 PAWR_HUMAN Homo sapiens PRKC, apoptosis, WT1, regulator (PAWR), mRNA. 241 actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 TGTTCGAGAATATCTACTTGA 0.358000 46 76 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42281493 42281493 + Missense_Mutation SNP A A T TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr18:42281493A>T uc010dni.3 + 1 478 c.182A>T c.(181-183)gAt>gTt p.D61V SETBP1_uc002lay.3_Missense_Mutation_p.D61V NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. 61 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GAGGAGGAGGATGAACTAGGC 0.582000 Schinzel-Giedion syndrome 12 114 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216251673 216251673 + Missense_Mutation SNP C C T TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr1:216251673C>T uc001hku.1 - 26 5717 c.5330G>A c.(5329-5331)cGg>cAg p.R1777Q NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 1777 Laminin G-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.F1776Y(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGTATTTAACCGGAAGGTCAA 0.373000 HNSCC(13;0.011) 5 712 0 0 1 0 0 SERF2 10169 broad.mit.edu 37 15 44085952 44085952 + Nonsense_Mutation SNP A A T TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr15:44085952A>T uc010bdq.3 + 2 696 c.295A>T c.(295-297)Aga>Tga p.R99* ELL3_uc001zsx.1_Intron|SERF2_uc001zsz.4_Missense_Mutation_p.K54M|SERF2_uc021skb.1_Missense_Mutation_p.K54M|SERF2_uc010uee.2_Non-coding_Transcript|SERF2_uc021skc.1_Nonsense_Mutation_p.R62*|C15orf63_uc001ztb.3_Intron|SERF2_uc021skd.1_Missense_Mutation_p.K40M|MIR1282_uc021ske.1_Non-coding_Transcript NM_001199875 NP_001186804 P84101 SERF2_HUMAN Homo sapiens small EDRK-rich factor 2 (SERF2), transcript variant 1, mRNA. 0 cytosol|nucleus lung(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) GCAAACGAGAAGAAGGAGGAA 0.562000 6 183 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161024210 161024210 + Missense_Mutation SNP T T A TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr1:161024210T>A uc001fxl.3 - 4 828 c.482A>T c.(481-483)cAg>cTg p.Q161L ARHGAP30_uc001fxk.3_Missense_Mutation_p.Q161L|ARHGAP30_uc001fxm.3_Missense_Mutation_p.Q7L|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.Q7L NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA. 161 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CATGTTGGTCTGGGCACTGAA 0.597000 13 39 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 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 41 86 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238280362 238280362 + Missense_Mutation SNP G G A TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr2:238280362G>A uc002vwq.3 - 7 3965 c.3680C>T c.(3679-3681)gCg>gTg p.A1227V COL6A3_uc002vwl.2_Intron|COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwr.3_Missense_Mutation_p.A1026V NM_057165 NP_476506 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 3, mRNA. 1434 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AACCTCCGACGCCCCCATCTC 0.478000 5 246 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155026852 155026852 + Missense_Mutation SNP A A G TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr1:155026852A>G uc001fgr.1 + 5 583 c.482A>G c.(481-483)cAg>cGg p.Q161R LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Missense_Mutation_p.Q145R|ADAM15_uc010peu.1_Missense_Mutation_p.Q178R|ADAM15_uc001fgx.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgs.1_Missense_Mutation_p.Q161R|ADAM15_uc010pev.1_Missense_Mutation_p.Q171R|ADAM15_uc001fgu.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgv.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgw.1_Missense_Mutation_p.Q161R NM_207197 NP_997080 Q13444 ADA15_HUMAN Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA. 161 angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane SH3 domain binding|metalloendopeptidase activity|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GGGGACCTTCAGGGTCCTCCC 0.547000 4 199 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12416017 12416017 + Missense_Mutation SNP C C G TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr1:12416017C>G uc001atv.3 + 47 9882 c.9741C>G c.(9739-9741)aaC>aaG p.N3247K VPS13D_uc001atw.3_Missense_Mutation_p.N3222K|VPS13D_uc001atx.3_Missense_Mutation_p.N2434K NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 3246 protein localization p.Q3246P(1) NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GAACCCAAAACTATATGGTGA 0.438000 5 125 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73879565 73879565 + Nonsense_Mutation SNP C C T TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr11:73879565C>T uc001ouu.2 - 1 376 c.149G>A c.(148-150)tGg>tAg p.W50* PPME1_uc001ouw.3_5'Flank|C2CD3_uc001ouv.2_Nonsense_Mutation_p.W50* NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA. 50 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) TGCAATCTTCCATATGACTCT 0.458000 7 256 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 23696258 23696258 + Missense_Mutation SNP T T C TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr12:23696258T>C uc001rfw.3 - 12 1760 c.1658A>G c.(1657-1659)gAa>gGa p.E553G SOX5_uc001rfx.3_Missense_Mutation_p.E540G|SOX5_uc001rfy.3_Missense_Mutation_p.E432G|SOX5_uc001rfv.3_Missense_Mutation_p.E167G|SOX5_uc010siv.2_Missense_Mutation_p.E540G|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.E505G NM_006940 NP_694534 P35711 SOX5_HUMAN Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA. 553 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 TATGTGGGGTTCATTGCTACC 0.458000 5 210 0 0 1 0 0 SH3BGR 6450 broad.mit.edu 37 21 40823936 40823936 + Missense_Mutation SNP G G A TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr21:40823936G>A uc002yya.3 + 0 157 c.103G>A c.(103-105)Gct>Act p.A35T SH3BGR_uc002yxz.3_Intron NM_007341 NP_001001713 P55822 SH3BG_HUMAN Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA. 35 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) CCTGGCACTTGCTTGCCTGTG 0.592000 5 195 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140374545 140374545 + Silent SNP G G C TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr7:140374545G>C uc003vvy.1 + 1 1246 c.1068G>C c.(1066-1068)ctG>ctC p.L356L ADCK2_uc003vvz.3_Silent_p.L356L NM_052853 NP_443085 Q7Z695 ADCK2_HUMAN Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA. 356 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) TTGAGAAGCTGATGGTCCAAC 0.458000 16 27 0 0 1 0 0 GFRA4 64096 broad.mit.edu 37 20 3641263 3641264 + Frame_Shift_Del DEL CG CG - TCGA-DJ-A2PO-01A-21D-A19J-08 TCGA-DJ-A2PO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5ffc76d-2cea-418a-bc0d-806af868c101 b8861657-0dcc-433c-bfa6-3c83eaddddb5 g.chr20:3641263_3641264delCG uc002wio.3 - 2 636_637 c.636_637delCG c.(634-639)cgcgtgfs p.R212fs GFRA4_uc002win.3_Frame_Shift_Del_p.R182fs|GFRA4_uc002wip.1_3'UTR NM_145762 NP_665705 Q9GZZ7 GFRA4_HUMAN Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA. 212 anchored to membrane|extracellular region|plasma membrane receptor activity large_intestine(1)|lung(2) 3 CAGGGCGCCACGCGCGCGCTCA 0.698 2 4 --- --- --- ---