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 BMP5 653 broad.mit.edu 37 6 55739439 55739439 + Silent SNP G G A TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr6:55739439G>A uc003pcq.3 - 0 937 c.225C>T c.(223-225)tcC>tcT p.S75S BMP5_uc011dxf.2_Silent_p.S75S NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 75 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) GAGGTGCAGAGGACGCTTGTT 0.468000 4 123 0 0 1 0 0 ZNF280C 55609 broad.mit.edu 37 X 129354452 129354452 + Missense_Mutation SNP T T A TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chrX:129354452T>A uc004evm.3 - 12 1601 c.1398A>T c.(1396-1398)aaA>aaT p.K466N ZNF280C_uc010nrf.2_Missense_Mutation_p.K417N NM_017666 NP_060136 Q8ND82 Z280C_HUMAN Homo sapiens zinc finger protein 280C (ZNF280C), mRNA. 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 GAACTCCTTTTTTCTGTTTAC 0.343000 25 39 0 0 1 0 0 ATP6V0E1 8992 broad.mit.edu 37 5 172410879 172410879 + Missense_Mutation SNP C C G TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr5:172410879C>G uc003mcd.1 + 0 117 c.16C>G c.(16-18)Ctc>Gtc p.L6V NM_003945 NP_003936 O15342 VA0E1_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 (ATP6V0E1), mRNA. 6 ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole proton-transporting ATPase activity, rotational mechanism lung(2) 2 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GTATCACGGCCTCACTGTGCC 0.612000 7 256 0 0 1 0 0 SDC4 6385 broad.mit.edu 37 20 43959044 43959044 + Missense_Mutation SNP T T C TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr20:43959044T>C uc002xnu.3 - 3 447 c.407A>G c.(406-408)cAg>cGg p.Q136R SDC4_uc010zws.2_Missense_Mutation_p.Q64R NM_002999 NP_002990 P31431 SDC4_HUMAN Homo sapiens syndecan 4 (SDC4), mRNA. 136 extracellular region|integral to plasma membrane cytoskeletal protein binding|thrombospondin receptor activity SDC4/ROS1(7) NS(1)|breast(1)|endometrium(1)|large_intestine(2) 5 Myeloproliferative disorder(115;0.0122) GTTGCTGCCCTGCACAGTGCT 0.527000 T ROS1 NSCLC 41 66 0 0 1 0 0 CHST5 23563 broad.mit.edu 37 16 75563706 75563706 + Missense_Mutation SNP C C T TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr16:75563706C>T uc002fej.1 - 4 916 c.595G>A c.(595-597)Gtg>Atg p.V199M CHST5_uc002fei.3_Missense_Mutation_p.V193M|CHST5_uc021tlk.1_Missense_Mutation_p.V193M NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA. 193 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 TTGAGCACCACGTGGCTGTAG 0.657000 63 117 0 0 1 0 0 CDC5L 988 broad.mit.edu 37 6 44387276 44387276 + Missense_Mutation SNP G G A TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr6:44387276G>A uc003oxl.3 + 8 1493 c.1183G>A c.(1183-1185)Gta>Ata p.V395I NM_001253 NP_001244 Q99459 CDC5L_HUMAN Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA. 395 Interaction with PPP1R8. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTTCTCAGGTGTAACTCCACA 0.423000 4 98 0 0 1 0 0 CD44 960 broad.mit.edu 37 11 35201882 35201882 + Missense_Mutation SNP G G A TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr11:35201882G>A uc001mvu.3 + 2 729 c.295G>A c.(295-297)Gca>Aca p.A99T CD44_uc021qfw.1_Missense_Mutation_p.A99T|CD44_uc001mvv.3_Missense_Mutation_p.A99T|CD44_uc001mvw.3_Missense_Mutation_p.A99T|CD44_uc001mwc.4_Missense_Mutation_p.A99T|CD44_uc001mvx.3_Missense_Mutation_p.A99T|CD44_uc010rer.2_Missense_Mutation_p.A99T|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron NM_000610 NP_000601 P16070 CD44_HUMAN Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA. 99 Link. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation Golgi apparatus|cell surface|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) CATCTGTGCAGCAAACAACAC 0.493000 3 73 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 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 29 49 0 0 1 0 0 TCL1B 9623 broad.mit.edu 37 14 96157184 96157184 + Missense_Mutation SNP C C G TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr14:96157184C>G uc001yfa.3 + 1 325 c.274C>G c.(274-276)Ccc>Gcc p.P92A TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript|TCL1B_uc001yez.3_Missense_Mutation_p.P92A NM_004918 NP_004909 O95988 TCL1B_HUMAN Homo sapiens T-cell leukemia/lymphoma 1B (TCL1B), transcript variant 1, mRNA. 92 p.P92P(1) cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) GCAGCTCTACCCCGGGAGGAA 0.607000 3 100 0 0 1 0 0 BARHL2 343472 broad.mit.edu 37 1 91182584 91182584 + Missense_Mutation SNP T T C TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr1:91182584T>C uc001dns.3 - 0 211 c.169A>G c.(169-171)Acc>Gcc p.T57A NM_020063 NP_064447 Q9NY43 BARH2_HUMAN Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA. 57 nucleus sequence-specific DNA binding cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) GTCCCTACGGTATCAATCTCC 0.607000 3 106 0 0 1 0 0 FILIP1L 11259 broad.mit.edu 37 3 99567862 99567862 + Silent SNP A A G TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr3:99567862A>G uc003dtm.3 - 4 3121 c.2658T>C c.(2656-2658)ttT>ttC p.F886F MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Silent_p.F886F|FILIP1L_uc010hpf.3_Silent_p.F462F|FILIP1L_uc010hpg.3_Silent_p.F646F|FILIP1L_uc003dtn.3_Silent_p.F646F|FILIP1L_uc021xbr.1_Silent_p.F646F|FILIP1L_uc003dtp.1_Silent_p.F646F NM_182909 NP_878913 Q4L180 FIL1L_HUMAN Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA. 886 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 CAGGTTGCACAAAGTTGGCAT 0.448000 9 211 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111434635 111434635 + Missense_Mutation SNP A A T TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr4:111434635A>T uc003iab.4 + 6 1715 c.1373A>T c.(1372-1374)cAt>cTt p.H458L NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 458 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) ATGTCTTCGCATCCAATTATT 0.353000 63 75 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37745690 37745690 + Missense_Mutation SNP G G A TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr9:37745690G>A uc004aag.1 + 15 3705 c.3661G>A c.(3661-3663)Gtc>Atc p.V1221I FRMPD1_uc004aah.1_Missense_Mutation_p.V1221I NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA. 1221 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) TTCACCAGCCGTCCCTCCAGA 0.527000 4 124 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46498015 46498015 + Missense_Mutation SNP T T C TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr1:46498015T>C uc001cov.3 + 24 3636 c.3353T>C c.(3352-3354)cTg>cCg p.L1118P MAST2_uc001cow.3_Missense_Mutation_p.L1118P|MAST2_uc001cpa.3_Non-coding_Transcript NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA. 1118 PDZ. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GGCTTCACCCTGCGGGCCATT 0.577000 4 87 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140866043 140866043 + Missense_Mutation SNP C C T TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr5:140866043C>T uc003lky.2 + 0 1303 c.1303C>T c.(1303-1305)Ctc>Ttc p.L435F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Missense_Mutation_p.L435F|PCDHGC5_uc011dbc.2_5'Flank|PCDHGC5_uc003lla.2_5'Flank NM_018928 NP_061751 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA. 434 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L434I(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACCCTCCTCTCAGTACCCA 0.468000 26 46 0 0 1 0 0 DYRK4 8798 broad.mit.edu 37 12 4705796 4705796 + Missense_Mutation SNP C C G TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr12:4705796C>G uc009zeh.1 + 7 848 c.806C>G c.(805-807)gCt>gGt p.A269G DYRK4_uc001qmx.3_Missense_Mutation_p.A154G|DYRK4_uc001qmy.2_Missense_Mutation_p.A154G|DYRK4_uc021qtq.1_Missense_Mutation_p.A8G NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA. 154 Protein kinase. Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) ATCCTGGAAGCTCTCAGAAAG 0.498000 5 13 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106513029 106513029 + Silent SNP G G A TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr7:106513029G>A uc003vdv.4 + 2 2128 c.2043G>A c.(2041-2043)ctG>ctA p.L681L PIK3CG_uc003vdu.3_Silent_p.L681L|PIK3CG_uc003vdw.3_Silent_p.L681L NM_002649 NP_002640 P48736 PK3CG_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA. 681 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CCAGATTTCTGCTGAAGCGTG 0.378000 10 151 0 0 1 0 0 SLC39A4 55630 broad.mit.edu 37 8 145639747 145639747 + Frame_Shift_Del DEL A A - TCGA-EL-A3GS-01A-11D-A20C-08 TCGA-EL-A3GS-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0284b66-384e-4381-8417-b75de48de723 e8912aa1-848f-4ab7-b099-c4a4dff101d6 g.chr8:145639747delA uc003zcq.3 - 5 1148 c.1048delT c.(1048-1050)tgcfs p.C350fs SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_Frame_Shift_Del_p.C74fs|SLC39A4_uc003zcp.3_Frame_Shift_Del_p.C325fs NM_130849 NP_570901 Q6P5W5 S39A4_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA. 350 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CAGCCAGTGCAGGTCAGCAGC 0.657 2 4 --- --- --- ---