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 TRANK1 9881 broad.mit.edu 37 3 36872912 36872912 + Missense_Mutation SNP C C T TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr3:36872912C>T ENST00000301807.6 - 21 8277 c.6380G>A c.(6379-6381)cGg>cAg p.R2127Q TRANK1_ENST00000428977.2_Missense_Mutation_p.R2127Q|TRANK1_ENST00000429976.2_Missense_Mutation_p.R2677Q NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2677 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCTCAACTTCCGCTGTATGGA 0.577000 5 12 0 0 1 0 0 ZBTB24 9841 broad.mit.edu 37 6 109787075 109787075 + Silent SNP T T A TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr6:109787075T>A ENST00000230122.3 - 7 2240 c.2073A>T c.(2071-2073)ccA>ccT p.P691P MICAL1_ENST00000368952.4_5'UTR NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 691 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) CCTGGCCAAGTGGCGTTGGCT 0.537000 12 46 0 0 1 0 0 PTCD2 79810 broad.mit.edu 37 5 71638813 71638813 + Missense_Mutation SNP A A G TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr5:71638813A>G ENST00000380639.5 + 8 794 c.778A>G c.(778-780)Att>Gtt p.I260V PTCD2_ENST00000543322.1_3'UTR|PTCD2_ENST00000536805.1_Missense_Mutation_p.I88V|PTCD2_ENST00000503868.1_Missense_Mutation_p.I151V|PTCD2_ENST00000460837.2_3'UTR NM_024754.3 NP_079030.3 Q8WV60 PTCD2_HUMAN pentatricopeptide repeat domain 2 260 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1) 11 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.73e-53) AGCTGTGTCCATTTTTTCTCA 0.313000 14 39 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 4 81 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166027021 166027021 + Missense_Mutation SNP C C T TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr2:166027021C>T ENST00000360093.3 - 4 793 c.302G>A c.(301-303)cGa>cAa p.R101Q SCN3A_ENST00000409101.3_Missense_Mutation_p.R101Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.R101Q NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 101 voltage-gated sodium channel complex voltage-gated sodium channel activity p.R101L(2) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GGCACTGAATCGGAAAATTGC 0.308000 6 40 0 0 1 0 0 CHCHD10 400916 broad.mit.edu 37 22 24109618 24109618 + Silent SNP G G A TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr22:24109618G>A ENST00000484558.2 - 2 772 c.204C>T c.(202-204)gcC>gcT p.A68A CHCHD10_ENST00000520222.1_Intron|CHCHD10_ENST00000401675.3_Silent_p.A68A Q8WYQ3 CHC10_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 10 68 mitochondrion large_intestine(2)|lung(1) 3 CTCCGGTCAGGGCGCTGCCCA 0.692000 2 3 0 0 1 0 0 AC093642.5 0 broad.mit.edu 37 2 243061183 243061183 + RNA SNP C C T TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr2:243061183C>T ENST00000456398.1 + 0 531 ATTCAAGATACCCGAAGGTTC 0.358000 5 57 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17084510 17084510 + RNA SNP G G A rs61769731 by1000genomes TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr1:17084510G>A ENST00000455405.2 - 0 379 p.L525L(2)|p.L530L(2) ACCCGCTGTAGGCCTGGCTCT 0.577000 10 51 0 0 1 0 0 CNR1 0 broad.mit.edu 37 6 88854344 88854344 + Missense_Mutation SNP G G T TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr6:88854344G>T ENST00000537554.1 - 2 4212 c.650C>A c.(649-651)tCc>tAc p.S217Y CNR1_ENST00000549716.1_Missense_Mutation_p.S156Y|CNR1_ENST00000535130.1_Missense_Mutation_p.S217Y|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Missense_Mutation_p.S217Y|CNR1_ENST00000468898.1_Missense_Mutation_p.S184Y|CNR1_ENST00000428600.2_Missense_Mutation_p.S217Y|CNR1_ENST00000549890.1_Missense_Mutation_p.S217Y|CNR1_ENST00000369501.2_Missense_Mutation_p.S217Y NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 217 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) CCTGTGAATGGATATGTACCT 0.577000 10 40 0.000442599 0.000458406 1 1 0 C1QTNF9B 387911 broad.mit.edu 37 13 24465897 24465897 + Missense_Mutation SNP C C T TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr13:24465897C>T ENST00000382137.3 - 3 601 c.533G>A c.(532-534)cGg>cAg p.R178Q C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.R178Q|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382057.3_Intron NM_001007537.1 NP_001007538.1 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 178 Collagen-like 3. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 TCTTATTCCCCGGACTCCTGG 0.587000 3 41 0 0 1 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28333660 28333660 + Missense_Mutation SNP G G T TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr6:28333660G>T ENST00000377255.3 + 7 1512 c.1215G>T c.(1213-1215)aaG>aaT p.K405N ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.K257N|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.K405N NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 405 positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 ACTGTGGGAAGACCTTCAGCC 0.507000 21 60 2.4624e-09 2.74652e-09 1 1 0 RP11-85G18.6 0 broad.mit.edu 37 10 27537019 27537019 + RNA SNP G G A rs12245194 by1000genomes TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr10:27537019G>A ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA ATTTACCGCTGAGAAATAAAG 0.403000 5 110 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 4 37 0 0 1 0 0 TRAV3 0 broad.mit.edu 37 14 22192106 22192106 + RNA SNP A A G rs926027 by1000genomes TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr14:22192106A>G ENST00000390425.2 + 0 147 GACCCCCCCAATCCCGCCCGC 0.582000 6 126 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 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 12 56 0 0 1 0 0 AC074391.1 0 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 4 8 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 3 6 --- --- --- ---