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 CDH10 1008 broad.mit.edu 37 5 24537754 24537754 + Silent SNP T T A TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr5:24537754T>A uc003jgr.2 - 2 767 c.261A>T c.(259-261)ggA>ggT p.G87G CDH10_uc011cnu.2_Non-coding_Transcript NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA. 87 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G87*(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) ATTTGAGTGATCCATCTCCTT 0.373000 HNSCC(23;0.051) 6 13 0 0 1 0 0 DNAJC16 23341 broad.mit.edu 37 1 15863305 15863305 + Missense_Mutation SNP A A T TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr1:15863305A>T uc001aws.3 + 3 690 c.570A>T c.(568-570)gaA>gaT p.E190D DNAJC16_uc001awr.1_Missense_Mutation_p.E190D|DNAJC16_uc001awt.3_5'UTR NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA. 190 Thioredoxin. cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) AACTGGAAGAATTGGGTAAGA 0.398000 17 24 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56782202 56782202 + Nonsense_Mutation SNP C C T TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr16:56782202C>T uc002eka.3 + 1 164 c.43C>T c.(43-45)Cag>Tag p.Q15* NM_014669 NP_001229725 Q8N1F7 NUP93_HUMAN Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA. 15 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.E14K(3)|p.Q15*(2) breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 GCAAGCTGAACAGCTTGCTGC 0.517000 17 38 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131870080 131870080 + Missense_Mutation SNP C C G TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr7:131870080C>G uc003vra.4 - 15 3365 c.3136G>C c.(3136-3138)Gag>Cag p.E1046Q NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1046 IPT/TIG 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CATTCTGGCTCAATCCGCACG 0.547000 3 60 0 0 1 0 0 CD248 57124 broad.mit.edu 37 11 66082772 66082772 + Missense_Mutation SNP C C A TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr11:66082772C>A uc001ohm.1 - 0 1744 c.1727G>T c.(1726-1728)aGa>aTa p.R576I NM_020404 NP_065137 Q9HCU0 CD248_HUMAN Homo sapiens CD248 molecule, endosialin (CD248), mRNA. 576 Pro-rich. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding p.L575L(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) GGCCTGGGTTCTGAGGACAAG 0.607000 37 48 0 0 1 0 0 DENND5A 23258 broad.mit.edu 37 11 9161345 9161345 + Missense_Mutation SNP T T C TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr11:9161345T>C uc001mhl.3 - 22 3994 c.3737A>G c.(3736-3738)cAc>cGc p.H1246R DENND5A_uc001mhk.3_Missense_Mutation_p.H589R|DENND5A_uc010rbw.2_Missense_Mutation_p.T1235A NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA. 1246 RUN 2. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CTCATACATGTGTGCAGTGAT 0.542000 14 25 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7651554 7651554 + Missense_Mutation SNP C C T TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr12:7651554C>T uc001qsz.3 - 3 816 c.688G>A c.(688-690)Gga>Aga p.G230R CD163_uc001qta.3_Missense_Mutation_p.G230R|CD163_uc009zfw.2_Missense_Mutation_p.G230R NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 230 SRCR 2. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.N229K(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GACTCATTTCCGTTGCATATA 0.433000 10 183 0 0 1 0 0 TTLL7 79739 broad.mit.edu 37 1 84376919 84376919 + Missense_Mutation SNP T T C TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr1:84376919T>C uc001djc.3 - 14 2111 c.1715A>G c.(1714-1716)aAt>aGt p.N572S TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Non-coding_Transcript|HH834010_uc021ooz.1_5'Flank NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA. 572 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TCTTTTCTTATTTTGGTACTC 0.338000 9 51 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 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 19 27 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139371685 139371685 + Missense_Mutation SNP A A C TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr9:139371685A>C uc004chx.3 - 2 692 c.383T>G c.(382-384)tTg>tGg p.L128W SEC16A_uc004chv.4_5'Flank|SEC16A_uc004chw.3_Missense_Mutation_p.L128W|SEC16A_uc010nbn.3_Missense_Mutation_p.L128W|SEC16A_uc010nbo.1_Missense_Mutation_p.L128W NM_014866 NP_055681 O15027 SC16A_HUMAN Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA. 2098 protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) TGAAGGTGTCAATGCACCAGA 0.567000 37 55 0 0 1 0 0 KCNS2 3788 broad.mit.edu 37 8 99441073 99441073 + Missense_Mutation SNP A A G TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr8:99441073A>G uc003yin.3 + 1 1216 c.866A>G c.(865-867)aAc>aGc p.N289S KCNS2_uc022azb.1_Missense_Mutation_p.N289S NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA. 289 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) ACTTTAGCCAACTTGGGCAGG 0.562000 5 69 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21170720 21170720 + Missense_Mutation SNP G G A TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr16:21170720G>A uc010vbe.2 - 0 43 c.43C>T c.(43-45)Ccc>Tcc p.P15S TMEM159_uc010vbf.2_Intron|TMEM159_uc002dih.4_Intron|TMEM159_uc002dif.4_Intron|TMEM159_uc002dig.4_Intron NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 15 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCCGGATGGGGAGGGGCGGCC 0.622000 48 68 0 0 1 0 0 CWC25 54883 broad.mit.edu 37 17 36959028 36959028 + Missense_Mutation SNP A A G TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr17:36959028A>G uc002hqu.3 - 8 1241 c.1088T>C c.(1087-1089)cTc>cCc p.L363P CWC25_uc010wdv.2_Missense_Mutation_p.L300P|CWC25_uc010wdw.1_Non-coding_Transcript|PIP4K2B_uc002hqs.3_5'Flank|PIP4K2B_uc021twj.1_5'Flank NM_017748 NP_060218 Q9NXE8 CWC25_HUMAN Homo sapiens CWC25 spliceosome-associated protein homolog (S. cerevisiae) (CWC25), mRNA. 363 central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 14 ATGCCTCTTGAGGATGTTCAG 0.517000 3 114 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152193154 152193154 + Silent SNP C C G TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr1:152193154C>G uc001ezt.1 - 2 1027 c.951G>C c.(949-951)ggG>ggC p.G317G NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 317 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGAGGAGTGCCCCGAACCGG 0.612000 3 110 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34826174 34826174 + Missense_Mutation SNP A A G TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr6:34826174A>G uc003oju.4 + 13 2275 c.2041A>G c.(2041-2043)Acc>Gcc p.T681A UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA. 681 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 TCAGCCTAATACCCTCCCTCC 0.488000 4 130 0 0 1 0 0 OR52N4 390072 broad.mit.edu 37 11 5776224 5776224 + Missense_Mutation SNP G G A TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr11:5776224G>A uc001mbu.3 + 0 302 c.254G>A c.(253-255)tGc>tAc p.C85Y TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA. 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) AAAGCCCTCTGCATCTTCTGG 0.468000 31 37 0 0 1 0 0