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 PI3 5266 broad.mit.edu 37 20 43804501 43804501 + Splice_Site SNP G G A TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr20:43804501G>A ENST00000243924.3 + 2 126 c.e2-1 NM_002638.3 NP_002629.1 P19957 ELAF_HUMAN peptidase inhibitor 3, skin-derived copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity large_intestine(1)|lung(5)|skin(1) 7 Myeloproliferative disorder(115;0.0122) TCTTTTAACAGTTCCTGTTAA 0.448000 5 75 0 0 1 0 0 IFITM3 10410 broad.mit.edu 37 11 320606 320606 + Missense_Mutation SNP G G T rs149004156 by1000genomes TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr11:320606G>T ENST00000399808.4 - 1 444 c.208C>A c.(208-210)Ccc>Acc p.P70T IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 70 Interaction with SPP1. response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P70T(3) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGCAGCAGGGGTTCATGAAG 0.632000 6 73 0.000442599 0.000442599 1 1 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 18 34 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 162009 162009 + Missense_Mutation SNP A A G TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr5:162009A>G ENST00000283426.6 + 10 1581 c.1531A>G c.(1531-1533)Agg>Ggg p.R511G NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 511 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GGCTGAGTGCAGGGAGGGAGA 0.632000 7 25 0 0 1 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62818136 62818136 + RNA SNP G G C TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr17:62818136G>C ENST00000582986.1 - 0 362 NR_024386.1 CTGAAGAATGGGAAATGGAAT 0.572000 4 39 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 48036151 48036151 + Missense_Mutation SNP C C T TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr6:48036151C>T ENST00000543600.1 - 1 229 c.190G>A c.(190-192)Gcc>Acc p.A64T PTCHD4_ENST00000339488.4_Missense_Mutation_p.A81T Q6ZW05 CF138_HUMAN patched domain containing 4 81 integral to membrane hedgehog receptor activity TCGATCTTGGCCAGGCTGTGG 0.652000 3 44 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr1:142713944C>T ENST00000369381.2 - 0 661 TGATTACCTCCGAAGTTAAAG 0.308000 3 30 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234243689 234243689 + Silent SNP C C T TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr2:234243689C>T ENST00000409110.1 + 11 1118 c.888C>T c.(886-888)ggC>ggT p.G296G SAG_ENST00000449594.2_Silent_p.G162G NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 296 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) AAAGGAGAGGCATTGCCCTGG 0.542000 22 30 0 0 1 0 0 NBPF15 284565 broad.mit.edu 37 1 148594439 148594439 + Silent SNP A A G rs146739148 byFrequency TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr1:148594439A>G ENST00000442702.2 + 21 2879 c.1812A>G c.(1810-1812)ttA>ttG p.L604L NBPF15_ENST00000369187.3_Silent_p.L604L NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 604 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) CTGAAGTCTTACAGGACTCAC 0.463000 7 262 0 0 1 0 0 NBPF15 284565 broad.mit.edu 37 1 148594434 148594434 + Missense_Mutation SNP G G A rs143361250 byFrequency TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr1:148594434G>A ENST00000442702.2 + 21 2874 c.1807G>A c.(1807-1809)Gtc>Atc p.V603I NBPF15_ENST00000369187.3_Missense_Mutation_p.V603I NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 603 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) AGAGCCTGAAGTCTTACAGGA 0.458000 7 258 0 0 1 0 0 PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 2 4 --- --- --- --- THAP4 51078 broad.mit.edu 37 2 242545840 242545840 + Frame_Shift_Del DEL C C - TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr2:242545840delC ENST00000407315.1 - 3 1720 c.1289delG c.(1288-1290)gcfs p.G430fs THAP4_ENST00000402136.1_Frame_Shift_Del_p.G18fs|THAP4_ENST00000402545.1_Frame_Shift_Del_p.G18fs NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 430 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) CAGCCAGGTGCCCAGCATCCA 0.617 2 4 --- --- --- --- RBPJ 3516 broad.mit.edu 37 4 26417145 26417146 + Frame_Shift_Ins INS - - A TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr4:26417145_26417146insA ENST00000342320.4 + 4 377_378 c.201_202insA c.(199-204)aaaaaafs p.KK67fs RBPJ_ENST00000348160.4_Frame_Shift_Ins_p.KK68fs|RBPJ_ENST00000504907.1_Frame_Shift_Ins_p.KK67fs|RBPJ_ENST00000507561.1_Frame_Shift_Ins_p.KK46fs|RBPJ_ENST00000361572.6_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000355476.3_Frame_Shift_Ins_p.KK67fs|RBPJ_ENST00000342295.1_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000345843.3_Frame_Shift_Ins_p.KK66fs Q06330 SUH_HUMAN recombination signal binding protein for immunoglobulin kappa J region 81 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) GTGGATGGAAGAAAAAAAAAGA 0.371 9 111 --- --- --- --- KIAA1958 158405 broad.mit.edu 37 9 115421618 115421627 + Frame_Shift_Del DEL CTGGCCACCT CTGGCCACCT - TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c255364-521b-4bba-b407-7d148b987883 21630a1c-4fd2-400a-ba3d-63ecedc1d4cc g.chr9:115421618_115421627delCTGGCCACCT ENST00000337530.6 + 4 1716_1725 c.1420_1429delCTGGCCACCT c.(1420-1431)cgfs p.LATS474fs KIAA1958_ENST00000536272.1_Frame_Shift_Del_p.LATS502fs NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 474 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 CTCGGACTTCCTGGCCACCTCGCTCCATGC 0.543 23 55 --- --- --- ---