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 CRIPAK 285464 broad.mit.edu 37 4 1389234 1389234 + Missense_Mutation SNP G G A rs71299249 TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr4:1389234G>A uc003gdf.2 + 0 3895 c.935G>A c.(934-936)tGc>tAc p.C312Y NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA. 312 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding p.P310fs*95(1) NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GTGCCCGCCTGCTCACGTGCC 0.667000 8 428 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91770293 91770293 + Silent SNP G G A TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr14:91770293G>A uc010aty.3 - 19 3541 c.3387C>T c.(3385-3387)agC>agT p.S1129S NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 1129 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association p.S1129S(1) central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TGAGCGCTGCGCTCTGGGAAC 0.657000 40 56 0 0 1 0 0 VTN 7448 broad.mit.edu 37 17 26696674 26696674 + Missense_Mutation SNP C C G TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr17:26696674C>G uc002hbc.3 - 2 532 c.383G>C c.(382-384)gGc>gCc p.G128A TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank NM_000638 NP_000629 P04004 VTNC_HUMAN Homo sapiens vitronectin (VTN), mRNA. 128 cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 13 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) CTTAGAGGCGCCCACCTCAGG 0.627000 21 34 0 0 1 0 0 GPR174 84636 broad.mit.edu 37 X 78426795 78426795 + Silent SNP G G A TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chrX:78426795G>A uc004edg.1 + 0 327 c.291G>A c.(289-291)ctG>ctA p.L97L NM_032553 NP_115942 Q9BXC1 GP174_HUMAN Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA. 97 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 GTTTCTACCTGAAGTATGTCA 0.448000 HNSCC(63;0.18) 48 71 0 0 1 0 0 RNFT1 51136 broad.mit.edu 37 17 58034708 58034708 + Silent SNP T T C TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr17:58034708T>C uc002iya.3 - 5 975 c.882A>G c.(880-882)caA>caG p.Q294Q RNFT1_uc002iyb.3_Non-coding_Transcript|RNFT1_uc002iyc.3_Silent_p.Q32Q NM_016125 NP_057209 Q5M7Z0 RNFT1_HUMAN Homo sapiens ring finger protein, transmembrane 1 (RNFT1), mRNA. 294 integral to membrane zinc ion binding large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;7.95e-12)|all cancers(12;1.34e-10) TTCGGTAGTATTGACACAATT 0.368000 37 42 0 0 1 0 0 SEC22C 9117 broad.mit.edu 37 3 42597460 42597460 + Silent SNP G G A TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr3:42597460G>A uc003clj.3 - 5 883 c.673C>T c.(673-675)Ctg>Ttg p.L225L SEC22C_uc003clh.3_Silent_p.L225L|SEC22C_uc010hic.3_Intron|SEC22C_uc011azo.2_Silent_p.L155L|SEC22C_uc003cli.3_Silent_p.L225L NM_032970 NP_116752 Q9BRL7 SC22C_HUMAN Homo sapiens SEC22 vesicle trafficking protein homolog C (S. cerevisiae) (SEC22C), transcript variant 1, mRNA. 225 ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(2) 3 KIRC - Kidney renal clear cell carcinoma(284;0.222) AGAAAAGCCAGAATGTTTCCA 0.383000 22 28 0 0 1 0 0 SERPINH1 871 broad.mit.edu 37 11 75277986 75277986 + Missense_Mutation SNP G G A TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr11:75277986G>A uc001owr.3 + 1 890 c.592G>A c.(592-594)Gcc>Acc p.A198T SERPINH1_uc009yuf.3_Missense_Mutation_p.A198T|SERPINH1_uc009yug.3_Missense_Mutation_p.A198T|SERPINH1_uc001ows.3_Missense_Mutation_p.A198T|SERPINH1_uc001owt.3_5'Flank NM_001235 NP_001226 P50454 SERPH_HUMAN Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), transcript variant 2, mRNA. 198 regulation of proteolysis|response to unfolded protein ER-Golgi intermediate compartment|endoplasmic reticulum lumen collagen binding|serine-type endopeptidase inhibitor activity endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1) 15 Ovarian(111;0.11) CACGGACGGCGCCCTGCTAGT 0.657000 29 45 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 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 33 68 0 0 1 0 0 ADAM8 101 broad.mit.edu 37 10 135084771 135084771 + Missense_Mutation SNP T T C TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr10:135084771T>C uc021qbe.1 - 12 1393 c.1307A>G c.(1306-1308)aAc>aGc p.N436S ADAM8_uc009ybi.3_Missense_Mutation_p.N436S|ADAM8_uc010qva.2_Missense_Mutation_p.N397S NM_001109 NP_001100 B4DVM6 B4DVM6_HUMAN Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA. 397 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2) 17 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) GGTGGTAGAGTTGCAGCAGCG 0.706000 12 18 0 0 1 0 0 KRTAP9-3 83900 broad.mit.edu 37 17 39388991 39388991 + Missense_Mutation SNP T T G TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr17:39388991T>G uc021txg.1 + 0 277 c.238T>G c.(238-240)Tgc>Ggc p.C80G NM_031962 NP_114168 Q9BYQ3 KRA93_HUMAN Homo sapiens keratin associated protein 9-3 (KRTAP9-3), mRNA. 80 16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI]. keratin filament protein binding breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1) 8 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) TAGCACACCCTGCTGCCAGCC 0.587000 46 61 0 0 1 0 0 DDX39A 10212 broad.mit.edu 37 19 14523412 14523412 + Missense_Mutation SNP G G A TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr19:14523412G>A uc010xnp.2 - 3 498 c.287C>T c.(286-288)gCg>gTg p.A96V DDX39A_uc002myo.3_Missense_Mutation_p.A96V|DDX39A_uc010dzl.3_Non-coding_Transcript|DDX39A_uc010dzm.1_Missense_Mutation_p.A96V NM_005804 NP_005795 O00148 DX39A_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A (DDX39A), transcript variant 1, mRNA. 96 Helicase ATP-binding. mRNA export from nucleus|nuclear mRNA splicing, via spliceosome nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1) 11 CACGAAGACCGCTGTCTTGCC 0.642000 13 53 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9923438 9923438 + Missense_Mutation SNP C C A TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr16:9923438C>A uc002czo.4 - 8 2397 c.1849G>T c.(1849-1851)Gtg>Ttg p.V617L GRIN2A_uc010uym.2_Missense_Mutation_p.V617L|GRIN2A_uc010uyn.2_Missense_Mutation_p.V460L|GRIN2A_uc002czr.4_Missense_Mutation_p.V617L NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 1, mRNA. 617 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGGACAGGCACGGAGTTATTG 0.488000 32 59 0 0 1 0 0 DNAJC1 64215 broad.mit.edu 37 10 22048118 22048118 + Missense_Mutation SNP C C T TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr10:22048118C>T uc001irc.3 - 10 1864 c.1577G>A c.(1576-1578)tGt>tAt p.C526Y NM_022365 NP_071760 Q96KC8 DNJC1_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA. 526 SANT 2. negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2) 21 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) GGACGGGACACATCTGGCTAT 0.547000 85 137 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214794133 214794133 + Missense_Mutation SNP A A G TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr1:214794133A>G uc001hkm.3 + 5 883 c.709A>G c.(709-711)Att>Gtt p.I237V NM_016343 NP_057427 P49454 CENPF_HUMAN Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA. 237 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity). DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AAGAACTCCAATTAGGAGAGA 0.438000 4 169 0 0 1 0 0 SLC5A5 6528 broad.mit.edu 37 19 18001785 18001785 + Missense_Mutation SNP C C G TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr19:18001785C>G uc002nhr.4 + 13 2089 c.1742C>G c.(1741-1743)gCc>gGc p.A581G NM_000453 NP_000444 Q92911 SC5A5_HUMAN Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA. 581 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GAAGAAGTGGCCATCCTGGAT 0.612000 52 84 0 0 1 0 0 SENP6 26054 broad.mit.edu 37 6 76385768 76385768 + Missense_Mutation SNP C C G TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr6:76385768C>G uc003pid.4 + 12 2238 c.1619C>G c.(1618-1620)aCa>aGa p.T540R SENP6_uc003pie.4_Missense_Mutation_p.T533R|SENP6_uc010kbf.3_Non-coding_Transcript|SENP6_uc003pic.2_Missense_Mutation_p.T533R|SENP6_uc003pif.1_Missense_Mutation_p.T431R NM_015571 NP_056386 Q9GZR1 SENP6_HUMAN Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA. 540 proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) AATAAATTAACAAGTAAGTTG 0.303000 9 26 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107594163 107594163 + Missense_Mutation SNP C C T TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr7:107594163C>T uc003vev.2 - 19 3124 c.2963G>A c.(2962-2964)gGc>gAc p.G988D LAMB1_uc003vew.2_Missense_Mutation_p.G964D NM_002291 NP_002282 P07942 LAMB1_HUMAN Homo sapiens laminin, beta 1 (LAMB1), mRNA. 964 Laminin EGF-like 10. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGATGGATTGCCAAAGTATCC 0.502000 8 119 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18314678 18314679 + In_Frame_Ins INS - - TCC TCGA-EL-A3GQ-01A-11D-A202-08 TCGA-EL-A3GQ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 756b3616-68fa-4613-bbb9-f4335ee01653 54c111f2-4fcc-40a5-88d6-20c229784f90 g.chr22:18314678_18314679insTCC uc002zng.4 - 20 3349_3350 c.2996_2997insGGA c.(2995-2997)gaa>gaGGAa p.999_999E>EE MICAL3_uc011agl.2_In_Frame_Ins_p.999_999E>EE NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA. 999 Glu-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) cttcatattcttcctcctcctc 0.550 6 2 --- --- --- ---