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 C2orf42 54980 broad.mit.edu 37 2 70402827 70402827 + Silent SNP A A C TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr2:70402827A>C uc002sgh.3 - 4 1345 c.1017T>G c.(1015-1017)gtT>gtG p.V339V NM_017880 NP_060350 Q9NWW7 CB042_HUMAN Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA. 339 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 ACGAGGAAGCAACCACAGGCT 0.438000 7 363 0 0 1 0 0 SHROOM2 357 broad.mit.edu 37 X 9841718 9841718 + Silent SNP G G A rs139542964 TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chrX:9841718G>A uc004csu.1 + 1 282 c.192G>A c.(190-192)gcG>gcA p.A64A NM_001649 NP_001640 Q13796 SHRM2_HUMAN Homo sapiens shroom family member 2 (SHROOM2), mRNA. 64 PDZ. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity p.A63T(1) breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) AAGCCGCGGCGGTCGACAAGT 0.537000 OREG0019659 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 134 0 0 1 0 0 KIAA0513 9764 broad.mit.edu 37 16 85100875 85100875 + Missense_Mutation SNP G G C TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr16:85100875G>C uc002fiu.3 + 1 418 c.198G>C c.(196-198)tgG>tgC p.W66C KIAA0513_uc010voj.2_Missense_Mutation_p.W66C|KIAA0513_uc002fit.3_Missense_Mutation_p.W66C NM_014732 NP_055547 O60268 K0513_HUMAN Homo sapiens KIAA0513 (KIAA0513), mRNA. 66 cytoplasm breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.234) ACCCGTCCTGGGACCAAGACC 0.617000 5 69 0 0 1 0 0 VDAC3 7419 broad.mit.edu 37 8 42259489 42259489 + Silent SNP C C T TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr8:42259489C>T uc022aul.1 + 5 512 c.510C>T c.(508-510)ttC>ttT p.F170F VDAC3_uc010lxk.3_3'UTR|VDAC3_uc003xpc.3_Silent_p.F169F|VDAC3_uc011lct.2_Silent_p.F169F NM_001135694 NP_001129166 Q9Y277 VDAC3_HUMAN Homo sapiens voltage-dependent anion channel 3 (VDAC3), transcript variant 2, mRNA. 169 adenine transport mitochondrial outer membrane|pore complex nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 7 all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024) Dihydroxyaluminium(DB01375) AGAATAATTTCGCCCTGGGTT 0.463000 4 77 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652207 121652207 + Missense_Mutation SNP A A G TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr7:121652207A>G uc003vjy.3 + 11 3502 c.3107A>G c.(3106-3108)gAt>gGt p.D1036G PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA. 1036 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GTGTTTGGTGATGATAATAAG 0.363000 4 120 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 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 18 113 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155491013 155491013 + Missense_Mutation SNP G G A TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr1:155491013G>A uc009wqq.3 - 1 778 c.298C>T c.(298-300)Cca>Tca p.P100S ASH1L_uc001fkt.3_Missense_Mutation_p.P100S|ASH1L_uc009wqr.1_Missense_Mutation_p.P100S NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA. 100 DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|chromosome|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AAGTTCTTTGGAGGTTTTTTA 0.373000 6 220 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47426730 47426730 + Missense_Mutation SNP G G C TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr14:47426730G>C uc001wwj.4 - 8 2094 c.1936C>G c.(1936-1938)Cgc>Ggc p.R646G MDGA2_uc001wwi.4_Missense_Mutation_p.R348G|MDGA2_uc010ani.3_Missense_Mutation_p.R137G|SNORA25_uc021rsl.1_5'Flank NM_001113498 NP_878250 Q7Z553 MDGA2_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA. 577 spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TTGCCCAAGCGCCACTCATAG 0.453000 5 125 0 0 1 0 0 MAMLD1 10046 broad.mit.edu 37 X 149631107 149631107 + Missense_Mutation SNP C C T TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chrX:149631107C>T uc004fee.2 + 1 229 c.166C>T c.(166-168)Cat>Tat p.H56Y MAMLD1_uc011mxt.1_Missense_Mutation_p.H18Y|MAMLD1_uc011mxu.2_Intron|MAMLD1_uc011mxv.2_Intron NM_005491 NP_005482 Q13495 MAMD1_HUMAN Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 2, mRNA. 56 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) AGGAAGAAAGCATCAGGTAAG 0.517000 9 61 0 0 1 0 0 GALNT10 55568 broad.mit.edu 37 5 153789197 153789197 + Missense_Mutation SNP G G A TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr5:153789197G>A uc003lvh.3 + 8 1393 c.1261G>A c.(1261-1263)Gca>Aca p.A421T GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Missense_Mutation_p.A262T|FLJ38109_uc003lvi.3_Intron NM_198321 NP_938080 Q86SR1 GLT10_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA. 421 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) tggggatgtcgcagtccagaa 0.542000 5 192 0 0 1 0 0 CDC23 8697 broad.mit.edu 37 5 137524750 137524750 + Missense_Mutation SNP A A G TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr5:137524750A>G uc003lcl.3 - 15 1742 c.1711T>C c.(1711-1713)Ttt>Ctt p.F571L NM_004661 NP_004652 Q9UJX2 CDC23_HUMAN Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA. 571 G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GGTAGGAAAAAGGGAGCAGGC 0.532000 3 100 0 0 1 0 0 C6orf221 154288 broad.mit.edu 37 6 74073506 74073506 + Nonsense_Mutation SNP C C T TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr6:74073506C>T uc003pgt.4 + 2 630 c.577C>T c.(577-579)Cga>Tga p.R193* NM_001017361 NP_001017361 Q587J8 ECAT1_HUMAN Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA. 193 NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1) 19 GGGGACCCAGCGATCCCCCGA 0.642000 4 74 0 0 1 0 0 ZNF610 162963 broad.mit.edu 37 19 52869879 52869879 + Silent SNP C C A rs139676524 TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr19:52869879C>A uc002pyx.4 + 5 1654 c.1248C>A c.(1246-1248)acC>acA p.T416T ZNF610_uc002pyy.4_Silent_p.T416T|ZNF610_uc002pyz.4_Silent_p.T373T|ZNF610_uc002pza.3_Silent_p.T416T NM_001161426 NP_775801 Q8N9Z0 ZN610_HUMAN Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA. 416 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) TATACCTAACCAACCATCAGA 0.423000 3 86 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138414527 138414527 + Missense_Mutation SNP C C T TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr2:138414527C>T uc002tva.1 + 21 4177 c.4177C>T c.(4177-4179)Cgc>Tgc p.R1393C THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TCTAGAAACACGCCCTTGTAC 0.408000 23 215 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113447028 113447028 + Missense_Mutation SNP C C A TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr12:113447028C>A uc001tuj.3 + 9 2172 c.2032C>A c.(2032-2034)Cca>Aca p.P678T OAS2_uc001tui.1_Missense_Mutation_p.P678T NM_016817 NP_058197 P29728 OAS2_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA. 678 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|RNA binding|nucleotidyltransferase activity NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 AAACCCAATACCACCTTGGAA 0.493000 10 356 0 0 1 0 0 SLC2A14 144195 broad.mit.edu 37 12 7984255 7984255 + Missense_Mutation SNP C C T TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr12:7984255C>T uc010sgh.2 - 2 352 c.331G>A c.(331-333)Gtc>Atc p.V111I SLC2A14_uc001qtk.3_Missense_Mutation_p.V96I|SLC2A14_uc001qtl.3_Missense_Mutation_p.V73I|SLC2A14_uc001qtm.3_Missense_Mutation_p.V73I|SLC2A14_uc010sgg.2_Intron|SLC2A14_uc001qtn.3_Missense_Mutation_p.V96I|SLC2A14_uc001qto.3_Intron NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA. 96 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) ATACCCCCGACGGAAAATATG 0.493000 OREG0021654 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 134 0 0 1 0 0 DHX37 57647 broad.mit.edu 37 12 125459964 125459964 + Splice_Site SNP C C T TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr12:125459964C>T uc001ugy.3 - 6 1079 c.980_splice c.e6+1 p.R327_splice NM_032656 NP_116045 Q8IY37 DHX37_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA. 327 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) AGAGCCCTCACCGCTGGGACA 0.652000 7 118 0 0 1 0 0 NECAB1 64168 broad.mit.edu 37 8 91804128 91804128 + Frame_Shift_Del DEL A A - TCGA-FY-A3R7-01A-11D-A21Z-08 TCGA-FY-A3R7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bcbd8b-101e-4fd8-aed8-acb251f4e31d 97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73 g.chr8:91804128delA uc011lgg.2 + 0 208 c.14delA c.(13-15)cagfs p.Q5fs TMEM64_uc003yeo.2_5'Flank NM_022351 NP_071746 Q8N987 NECA1_HUMAN Homo sapiens N-terminal EF-hand calcium binding protein 1 (NECAB1), mRNA. 5 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 12 BRCA - Breast invasive adenocarcinoma(11;0.0499) GAAGATTCCCAGGAGACATCG 0.647 2 4 --- --- --- ---