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 SCN8A 6334 broad.mit.edu 37 12 52184279 52184279 + Missense_Mutation SNP G G A TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr12:52184279G>A ENST00000354534.5 + 25 4695 c.4517G>A c.(4516-4518)cGc>cAc p.R1506H SCN8A_ENST00000545061.1_Missense_Mutation_p.R1465H NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1506 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CCTATTCCCCGCCCCTTGGTA 0.458000 18 19 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 4 52 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50791398 50791398 + Silent SNP T T C TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr6:50791398T>C ENST00000263046.4 + 3 553 c.387T>C c.(385-387)tcT>tcC p.S129S TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000393655.3_Silent_p.S120S Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 120 Gln/Pro-rich (transactivation domain). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) AAGCCGGCTCTCTCCTGCCCC 0.697000 8 17 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48416491 48416491 + Missense_Mutation SNP C C T TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr10:48416491C>T ENST00000249598.1 - 1 362 c.203G>A c.(202-204)cGc>cAc p.R68H NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 68 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 GTTAAGGCTGCGCAGGAAATC 0.577000 7 72 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214818552 214818552 + Missense_Mutation SNP A A G TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr1:214818552A>G ENST00000366955.3 + 13 5807 c.5639A>G c.(5638-5640)gAa>gGa p.E1880G NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1976 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|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) TCATCACGTGAAGATATTGGA 0.408000 24 41 0 0 1 0 0 GOT1 2805 broad.mit.edu 37 10 101180440 101180440 + Missense_Mutation SNP G G A TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr10:101180440G>A ENST00000370508.5 - 2 268 c.241C>T c.(241-243)Cgg>Tgg p.R81W GOT1_ENST00000543866.1_Missense_Mutation_p.R60W|GOT1_ENST00000471741.1_5'UTR NM_002079.2 NP_002070.1 P17174 AATC_HUMAN glutamic-oxaloacetic transaminase 1, soluble 81 aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus cytosol L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2) 16 Ovarian(717;0.028)|Colorectal(252;0.234) Epithelial(162;4.76e-10)|all cancers(201;3.84e-08) L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GCACAGCTCCGGAACTCAGCC 0.488000 17 50 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 22 37 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22202372 22202372 + Missense_Mutation SNP A A G TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr1:22202372A>G ENST00000374695.3 - 24 3246 c.3167T>C c.(3166-3168)aTt>aCt p.I1056T NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 1056 Laminin IV type A 2. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GAAAGGCACAATGAAGGTGCT 0.637000 37 68 0 0 1 0 0 ZNF660 285349 broad.mit.edu 37 3 44635702 44635702 + Missense_Mutation SNP G G C TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr3:44635702G>C ENST00000322734.2 + 3 350 c.17G>C c.(16-18)aGa>aCa p.R6T RP11-944L7.4_ENST00000457331.1_RNA NM_173658.2 NP_775929.2 Q6AZW8 ZN660_HUMAN zinc finger protein 660 6 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) AGAAAGACAAGAAATTTCAAA 0.413000 19 50 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26732960 26732960 + Splice_Site SNP C C T TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr12:26732960C>T ENST00000381340.3 - 33 4925 c.4509_splice c.e33+1 p.Q1503_splice NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1503 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TTTAACTTACCTGGAGGCTGG 0.368000 23 49 0 0 1 0 0 AMPD2 271 broad.mit.edu 37 1 110171834 110171834 + Nonsense_Mutation SNP G G T TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr1:110171834G>T ENST00000256578.3 + 13 2197 c.1837G>T c.(1837-1839)Gaa>Taa p.E613* AMPD2_ENST00000342115.4_Nonsense_Mutation_p.E532*|AMPD2_ENST00000528667.1_Nonsense_Mutation_p.E613*|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528454.1_Nonsense_Mutation_p.E495*|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000393688.3_Nonsense_Mutation_p.E494*|AMPD2_ENST00000358729.4_Nonsense_Mutation_p.E538* NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 613 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) CAGCCACCCGGAACTGCATCT 0.612000 15 49 2.61681e-11 2.71373e-11 1 1 0 SECISBP2 79048 broad.mit.edu 37 9 91954833 91954833 + Missense_Mutation SNP G G C TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr9:91954833G>C ENST00000375807.3 + 9 1338 c.1267G>C c.(1267-1269)Gag>Cag p.E423Q SECISBP2_ENST00000534113.2_Missense_Mutation_p.E355Q|SECISBP2_ENST00000339901.4_Missense_Mutation_p.E350Q NM_024077.3 NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 423 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 AGACAGAATAGAGACACCGAA 0.403000 45 52 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 6 138 0 0 1 0 0 EPHB6 0 broad.mit.edu 37 7 142562146 142562146 + Silent SNP C C G TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr7:142562146C>G ENST00000392957.2 + 7 1375 c.588C>G c.(586-588)gtC>gtG p.V196V EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.V196V NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 196 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) AACTGAACGTCAAAGAGCGGA 0.657000 114 225 0 0 1 0 0 ZNF660 285349 broad.mit.edu 37 3 44635791 44635791 + Missense_Mutation SNP G G C TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr3:44635791G>C ENST00000322734.2 + 3 439 c.106G>C c.(106-108)Gac>Cac p.D36H RP11-944L7.4_ENST00000457331.1_RNA NM_173658.2 NP_775929.2 Q6AZW8 ZN660_HUMAN zinc finger protein 660 36 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) TCAGTGCTGTGACCCTGCAAC 0.398000 29 64 0 0 1 0 0 KRTAP5-9 3846 broad.mit.edu 37 11 71259896 71259896 + Missense_Mutation SNP T T A TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr11:71259896T>A ENST00000528743.2 + 1 431 c.193T>A c.(193-195)Tgt>Agt p.C65S NM_005553.3 NP_005544.4 P26371 KRA59_HUMAN keratin associated protein 5-9 65 8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament kidney(1)|large_intestine(1)|lung(6)|prostate(3) 11 CTGTGGCTCCTGTGGGGGCTC 0.632000 8 246 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr6:29977327T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 5 60 0 0 1 0 0 DDX23 9416 broad.mit.edu 37 12 49229995 49229995 + Missense_Mutation SNP T T C TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr12:49229995T>C ENST00000308025.3 - 11 1370 c.1291A>G c.(1291-1293)Atc>Gtc p.I431V NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 431 Helicase ATP-binding. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 ACACCAATGATGTCACGATTC 0.507000 50 114 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 70227978 70227978 + Missense_Mutation SNP A A G rs148610030 byFrequency TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr7:70227978A>G ENST00000342771.4 + 7 1186 c.865A>G c.(865-867)Atc>Gtc p.I289V AUTS2_ENST00000406775.2_Missense_Mutation_p.I289V NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 289 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CAAAGAGCCAATCTTTGAGCC 0.587000 14 124 0 0 1 0 0 RPUSD4 84881 broad.mit.edu 37 11 126081384 126081384 + Silent SNP G G C TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr11:126081384G>C ENST00000298317.4 - 1 203 c.150C>G c.(148-150)ctC>ctG p.L50L RPUSD4_ENST00000533628.1_Silent_p.L50L|FAM118B_ENST00000533050.1_5'UTR NM_032795.2 NP_116184.2 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 50 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) TCTGGGCTCGGAGCTTCTCCG 0.572000 14 292 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54157600 54157600 + Silent SNP C C A TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr3:54157600C>A ENST00000474759.1 + 2 231 c.183C>A c.(181-183)tcC>tcA p.S61S CACNA2D3_ENST00000288197.5_Silent_p.S61S|CACNA2D3_ENST00000415676.2_Silent_p.S61S|CACNA2D3_ENST00000490478.1_5'UTR NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 61 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CTAAGTACTCCGGTTCCCAGC 0.493000 4 147 0.150653 0.150653 1 1 0 GGA3 23163 broad.mit.edu 37 17 73236447 73236447 + Silent SNP C C T TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr17:73236447C>T ENST00000245541.6 - 12 1455 c.1239G>A c.(1237-1239)ggG>ggA p.G413G GGA3_ENST00000578348.1_Silent_p.G291G|GGA3_ENST00000538886.1_Silent_p.G291G|GGA3_ENST00000351904.7_Silent_p.G380G|GGA3_ENST00000582717.1_Silent_p.G341G|GGA3_ENST00000582486.1_Silent_p.G341G NM_138619.2 NP_619525.1 Q9NZ52 GGA3_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 3 413 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) ACTGGCTGTTCCCAGCTGACT 0.577000 5 8 0 0 1 0 0 RP11-103G8.2 0 broad.mit.edu 37 3 150421899 150421900 + RNA INS - - C rs34009900 by1000genomes TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr3:150421899_150421900insC ENST00000475393.1 + 0 20 RP11-103G8.2_ENST00000471093.1_RNA TTCTGTCCCTGCTCTTCAGCGT 0.545 5 6 --- --- --- --- DLX6 1750 broad.mit.edu 37 7 96635421 96635423 + In_Frame_Del DEL GCC GCC - TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr7:96635421_96635423delGCC ENST00000518156.2 + 1 562_564 c.132_134delGCC c.(130-135)cag>ca p.QP44del DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA P56179 DLX6_HUMAN distal-less homeobox 6 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) aacagcaacagccgccgccgccg 0.704 2 4 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 7 19 --- --- --- --- BAD 572 broad.mit.edu 37 11 64037703 64037703 + Frame_Shift_Del DEL C C - TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr11:64037703delC ENST00000394532.3 - 3 755 c.485delG c.(484-486)gafs p.G162fs BAD_ENST00000544785.1_Frame_Shift_Del_p.G98fs|BAD_ENST00000309032.3_Frame_Shift_Del_p.G162fs NM_004322.3 NP_004313.1 Q92934 BAD_HUMAN BCL2-associated agonist of cell death 162 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 GGCGGAGCTTCCCCTGCCCAA 0.632 21 37 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 7 243 --- --- --- --- TMPRSS15 5651 broad.mit.edu 37 21 19737548 19737548 + Frame_Shift_Del DEL T T - TCGA-EL-A4K9-01A-11D-A257-08 TCGA-EL-A4K9-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0 2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a g.chr21:19737548delT ENST00000284885.3 - 7 715 c.682delA c.(682-684)gafs p.R228fs NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 228 CUB 1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 AACAAAAATCTTCCATCACAA 0.378 36 77 --- --- --- ---