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 ZFYVE26 23503 broad.mit.edu 37 14 68248225 68248225 + Missense_Mutation SNP A A G TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr14:68248225A>G uc001xka.2 - 21 4533 c.4394T>C c.(4393-4395)cTg>cCg p.L1465P ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.L1465P NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA. 1465 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CACGGGAAACAGGTATTGCCA 0.498000 3 157 0 0 1 0 0 PHEX 5251 broad.mit.edu 37 X 22112115 22112115 + Silent SNP T T G TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chrX:22112115T>G uc004dah.3 + 6 950 c.747T>G c.(745-747)ctT>ctG p.L249L PHEX_uc011mjr.2_Silent_p.L249L|PHEX_uc011mjs.2_Silent_p.L152L NM_000444 NP_000435 P78562 PHEX_HUMAN Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA. 249 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 GGGATGCCCTTTACAAGTTCA 0.413000 23 233 0 0 1 0 0 HNRPDL 9987 broad.mit.edu 37 4 83349287 83349287 + Missense_Mutation SNP G G A TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr4:83349287G>A uc003hmr.3 - 2 1193 c.658C>T c.(658-660)Ccc>Tcc p.P220S ENOPH1_uc003hmv.3_5'Flank|ENOPH1_uc003hmx.3_5'Flank|HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Missense_Mutation_p.P220S NM_031372 NP_112740 O14979 HNRDL_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA. 220 RRM 1. RNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|heterogeneous nuclear ribonucleoprotein complex double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Hepatocellular(203;0.114) GCCCTTTTGGGATCTATCAAT 0.373000 6 120 0 0 1 0 0 ANXA1 301 broad.mit.edu 37 9 75775259 75775259 + Silent SNP A A G TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr9:75775259A>G uc004ajf.1 + 4 425 c.351A>G c.(349-351)caA>caG p.Q117Q ANXA1_uc004ajg.1_Silent_p.Q117Q NM_000700 NP_000691 P04083 ANXA1_HUMAN Homo sapiens annexin A1 (ANXA1), mRNA. 117 alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5) 8 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) CTCCAGCGCAATTTGATGCTG 0.428000 3 152 0 0 1 0 0 GPATCH1 55094 broad.mit.edu 37 19 33592467 33592467 + Missense_Mutation SNP T T C TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr19:33592467T>C uc002nug.1 + 8 1381 c.1067T>C c.(1066-1068)tTa>tCa p.L356S NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN Homo sapiens G patch domain containing 1 (GPATCH1), mRNA. 356 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) TCTAAACCTTTATCTTCTAAG 0.308000 3 93 0 0 1 0 0 PTGR1 22949 broad.mit.edu 37 9 114345802 114345802 + Missense_Mutation SNP C C T TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr9:114345802C>T uc010mue.3 - 5 708 c.445G>A c.(445-447)Gca>Aca p.A149T PTGR1_uc011lwr.2_Missense_Mutation_p.A149T|PTGR1_uc004bfh.2_Missense_Mutation_p.A149T|PTGR1_uc004bfi.3_Missense_Mutation_p.A149T|PTGR1_uc004bfj.3_Missense_Mutation_p.A26T NM_001146109 NP_001139581 Q14914 PTGR1_HUMAN Homo sapiens prostaglandin reductase 1 (PTGR1), transcript variant 3, mRNA. 149 leukotriene metabolic process cytoplasm 15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(3)|ovary(1) 11 CCAGCTGCTGCATTAACCATC 0.448000 5 284 0 0 1 0 0 TBC1D5 9779 broad.mit.edu 37 3 17349528 17349528 + Missense_Mutation SNP A A G TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr3:17349528A>G uc010hev.3 - 14 1358 c.1094T>C c.(1093-1095)gTa>gCa p.V365A TBC1D5_uc010heu.3_5'UTR|TBC1D5_uc003cbf.3_Missense_Mutation_p.V365A|TBC1D5_uc003cbe.3_Missense_Mutation_p.V365A|TBC1D5_uc010hew.1_Missense_Mutation_p.V317A NM_001134381 NP_001127853 Q92609 TBCD5_HUMAN Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA. 365 intracellular Rab GTPase activator activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 GATATAATCTACTAAACCCAG 0.463000 3 83 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88768854 88768854 + Missense_Mutation SNP G G A TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr10:88768854G>A uc001kee.2 + 11 2049 c.845G>A c.(844-846)gGc>gAc p.G282D AGAP11_uc001kef.3_Intron NM_133447 NP_597704 Q8TF27 AGA11_HUMAN Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA. 282 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding TCCGTCACTGGCCAAACGTGC 0.507000 4 284 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 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 49 81 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746748 77746748 + Missense_Mutation SNP C C T TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr2:77746748C>T uc002snr.3 - 2 662 c.247G>A c.(247-249)Ggc>Agc p.G83S LRRTM4_uc002snq.3_Missense_Mutation_p.G83S|LRRTM4_uc002sns.2_Missense_Mutation_p.G83S|LRRTM4_uc002snt.2_Missense_Mutation_p.G84S NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA. 83 integral to membrane p.G83C(3)|p.A82V(1)|p.A82A(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) TGGTTAAGGCCGGCAAACTGA 0.403000 4 122 0 0 1 0 0 FAM64A 54478 broad.mit.edu 37 17 6348539 6348539 + Missense_Mutation SNP G G A TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr17:6348539G>A uc002gcw.2 + 1 218 c.109G>A c.(109-111)Gag>Aag p.E37K FAM64A_uc002gcu.2_Missense_Mutation_p.E37K NM_001195228 NP_001182157 Q9BSJ6 FA64A_HUMAN Homo sapiens family with sequence similarity 64, member A (FAM64A), transcript variant 2, mRNA. 37 nucleolus protein binding breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 COAD - Colon adenocarcinoma(228;0.141) CAGCCATCAGGAGACCTCTGT 0.647000 22 32 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73528814 73528814 + Missense_Mutation SNP A A G TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr15:73528814A>G uc002avm.4 + 7 1610 c.1418A>G c.(1417-1419)tAc>tGc p.Y473C NEO1_uc010ukx.2_Missense_Mutation_p.Y473C|NEO1_uc010uky.2_Missense_Mutation_p.Y473C|NEO1_uc002avn.4_Missense_Mutation_p.Y493C|NEO1_uc010ukz.2_5'UTR NM_002499 NP_002490 Q92859 NEO1_HUMAN Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA. 473 Fibronectin type-III 1. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 AACCTTACCTACTCTGTGTTC 0.562000 4 239 0 0 1 0 0 HOXC12 3228 broad.mit.edu 37 12 54348806 54348806 + Silent SNP G G T TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr12:54348806G>T uc010soq.2 + 0 93 c.93G>T c.(91-93)gcG>gcT p.A31A NM_173860 NP_776272 P31275 HXC12_HUMAN Homo sapiens homeobox C12 (HOXC12), mRNA. 31 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 12 ACTTCCGCGCGTCCGGGGCGC 0.652000 6 45 0 0 1 0 0 CD44 960 broad.mit.edu 37 11 35232956 35232956 + Silent SNP T T C TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr11:35232956T>C uc001mvu.3 + 13 2204 c.1770T>C c.(1768-1770)acT>acC p.T590T CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Silent_p.T547T|CD44_uc001mvw.3_Silent_p.T341T|CD44_uc001mwc.4_Silent_p.T277T|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Silent_p.T118T|CD44_uc010res.2_Silent_p.T154T|CD44_uc010ret.2_Non-coding_Transcript NM_000610 NP_000601 P16070 CD44_HUMAN Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA. 590 Stem. 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) CTGCAGTTACTGTTGGAGATT 0.398000 8 262 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37169637 37169637 + Missense_Mutation SNP T T A TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr5:37169637T>A uc011cpa.1 - 33 6720 c.6489A>T c.(6487-6489)ttA>ttT p.L2163F C5orf42_uc011coy.1_Missense_Mutation_p.L663F|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.L1238F|C5orf42_uc003jkr.1_Missense_Mutation_p.L196F NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 2163 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TTAATTGACATAAAGGAATAC 0.368000 40 63 0 0 1 0 0 CLCN6 1185 broad.mit.edu 37 1 11888618 11888618 + Missense_Mutation SNP G G C TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr1:11888618G>C uc001ate.4 + 11 1171 c.1058G>C c.(1057-1059)tGt>tCt p.C353S CLCN6_uc009vnh.1_Intron|CLCN6_uc010oat.2_Missense_Mutation_p.C69S|CLCN6_uc010oau.2_Missense_Mutation_p.C331S NM_001286 NP_001277 P51797 CLCN6_HUMAN Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA. 353 cell volume homeostasis|signal transduction endosome membrane|integral to membrane ATP binding|antiporter activity|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ACATTCAACTGTCTGAACAAG 0.537000 4 399 0 0 1 0 0 PPOX 5498 broad.mit.edu 37 1 161140206 161140206 + Missense_Mutation SNP G G C TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr1:161140206G>C uc001fyj.2 + 9 1285 c.995G>C c.(994-996)gGa>gCa p.G332A PPOX_uc001fyg.2_Missense_Mutation_p.G332A|PPOX_uc010pkg.1_Missense_Mutation_p.G170A|PPOX_uc001fyi.2_Missense_Mutation_p.G170A|PPOX_uc010pkh.1_Missense_Mutation_p.G77A NM_001122764 NP_001116236 P50336 PPOX_HUMAN Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 332 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CAGGGATTTGGACATTTGGTG 0.557000 3 104 0 0 1 0 0 OFD1 8481 broad.mit.edu 37 X 13778527 13778527 + Nonsense_Mutation SNP A A T TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chrX:13778527A>T uc004cvp.4 + 15 2307 c.1948A>T c.(1948-1950)Aga>Tga p.R650* OFD1_uc004cvr.4_Nonsense_Mutation_p.R217*|OFD1_uc011mil.2_Nonsense_Mutation_p.R217*|OFD1_uc004cvq.4_Nonsense_Mutation_p.R510*|OFD1_uc010nen.3_Nonsense_Mutation_p.R649*|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Nonsense_Mutation_p.R609*|OFD1_uc004cvv.4_Nonsense_Mutation_p.R609* NM_003611 NP_003602 O75665 OFD1_HUMAN Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA. 650 Mediates homooligomerization.|Mediates the interaction with SDCCAG8. G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AAAGGCTTTCAGAAGTTACCA 0.478000 42 138 0 0 1 0 0 MLL 4297 broad.mit.edu 37 11 118374769 118374769 + Missense_Mutation SNP A A T TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr11:118374769A>T uc001ptb.3 + 26 8185 c.8162A>T c.(8161-8163)gAt>gTt p.D2721V MLL_uc001pta.3_Missense_Mutation_p.D2718V NM_001197104 NP_001184033 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA. 2718 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) TCACAGTTGGATGGTGTTGAT 0.428000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 5 64 0 0 1 0 0 ZNF268 10795 broad.mit.edu 37 12 133780834 133780834 + Frame_Shift_Del DEL C C - TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr12:133780834delC uc010tcf.2 + 5 2892 c.2562delC c.(2560-2562)cacfs p.H854fs ZNF268_uc010tbv.1_Frame_Shift_Del_p.H693fs|ZNF268_uc010tbz.1_Frame_Shift_Del_p.H693fs|ZNF268_uc010tcc.1_Frame_Shift_Del_p.H693fs|ZNF268_uc010tcd.1_Frame_Shift_Del_p.H693fs|ZNF268_uc010tbx.2_3'UTR|ZNF268_uc010tbw.2_3'UTR|ZNF268_uc010tce.2_3'UTR|ZNF268_uc010tcg.2_3'UTR|ZNF268_uc010tca.2_3'UTR|ZNF268_uc010tcb.2_3'UTR|ZNF268_uc010tch.2_Frame_Shift_Del_p.H854fs|ZNF268_uc021rgu.1_Frame_Shift_Del_p.H771fs NM_003415 NP_001159354 Q14587 ZN268_HUMAN Homo sapiens zinc finger protein 268 (ZNF268), transcript variant 1, mRNA. 854 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1) 24 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TTCTTGTACACCAGAGAATGC 0.413 2 4 --- --- --- ---