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 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-IM-A41Z-01A-11D-A23M-08 TCGA-IM-A41Z-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc9b09-16d9-4f75-afd4-202d31227e7e 8569bd7b-8d5c-4618-9226-586227528f73 g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 76 154 1.25089e-41 1.30092e-41 1 1 0 EPHB6 0 broad.mit.edu 37 7 142564018 142564018 + Missense_Mutation SNP T T G TCGA-IM-A41Z-01A-11D-A23M-08 TCGA-IM-A41Z-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc9b09-16d9-4f75-afd4-202d31227e7e 8569bd7b-8d5c-4618-9226-586227528f73 g.chr7:142564018T>G ENST00000392957.2 + 9 2193 c.1406T>G c.(1405-1407)cTc>cGc p.L469R EPHB6_ENST00000442129.1_Missense_Mutation_p.L469R|EPHB6_ENST00000411471.2_Missense_Mutation_p.L192R NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 469 Fibronectin type-III 1. 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) GTGTCTGAGCTCAGCCCTGAC 0.592000 8 33 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17322762 17322762 + Silent SNP C C T TCGA-IM-A41Z-01A-11D-A23M-08 TCGA-IM-A41Z-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc9b09-16d9-4f75-afd4-202d31227e7e 8569bd7b-8d5c-4618-9226-586227528f73 g.chr19:17322762C>T ENST00000594824.1 + 40 6264 c.6117C>T c.(6115-6117)acC>acT p.T2039T MYO9B_ENST00000595618.1_3'UTR|MYO9B_ENST00000397274.2_3'UTR Q13459 MYO9B_HUMAN myosin IXB 2039 Tail. TVAAPP -> PWPPLH (in Ref. 3; AAC26597). actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 CCCTCCCCACCGTGGCCGCCC 0.692000 3 15 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25572628 25572628 + Silent SNP G G A TCGA-IM-A41Z-01A-11D-A23M-08 TCGA-IM-A41Z-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc9b09-16d9-4f75-afd4-202d31227e7e 8569bd7b-8d5c-4618-9226-586227528f73 g.chr18:25572628G>A ENST00000269141.3 - 9 1758 c.1335C>T c.(1333-1335)acC>acT p.T445T CDH2_ENST00000399380.3_Silent_p.T414T NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 445 Cadherin 3. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTTTGACCACGGTGACTAACC 0.517000 17 54 0 0 1 0 0 NDUFA10 4705 broad.mit.edu 37 2 240923063 240923063 + Silent SNP C C T TCGA-IM-A41Z-01A-11D-A23M-08 TCGA-IM-A41Z-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc9b09-16d9-4f75-afd4-202d31227e7e 8569bd7b-8d5c-4618-9226-586227528f73 g.chr2:240923063C>T ENST00000307300.4 - 11 1183 c.1161G>A c.(1159-1161)gtG>gtA p.V387V NDUFA10_ENST00000404554.1_Intron|NDUFA10_ENST00000252711.2_Intron O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 0 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8) 16 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) tgccaggctgcactgacagca 0.577000 6 11 0 0 1 0 0 ANKFY1 51479 broad.mit.edu 37 17 4076666 4076666 + Silent SNP G G A TCGA-IM-A41Z-01A-11D-A23M-08 TCGA-IM-A41Z-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc9b09-16d9-4f75-afd4-202d31227e7e 8569bd7b-8d5c-4618-9226-586227528f73 g.chr17:4076666G>A ENST00000341657.4 - 21 3032 c.2997C>T c.(2995-2997)gcC>gcT p.A999A ANKFY1_ENST00000574367.1_Silent_p.A1000A|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Silent_p.A1041A NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 999 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 TAAAGGCTTCGGCGTCCACTG 0.602000 29 66 0 0 1 0 0 FOXRED1 55572 broad.mit.edu 37 11 126139160 126139160 + Missense_Mutation SNP G G A TCGA-IM-A41Z-01A-11D-A23M-08 TCGA-IM-A41Z-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc9b09-16d9-4f75-afd4-202d31227e7e 8569bd7b-8d5c-4618-9226-586227528f73 g.chr11:126139160G>A ENST00000263578.5 + 1 133 c.59G>A c.(58-60)gGc>gAc p.G20D FOXRED1_ENST00000442061.2_5'UTR|FOXRED1_ENST00000532125.1_5'UTR|FOXRED1_ENST00000534011.1_3'UTR NM_017547.3 NP_060017.1 Q96CU9 FXRD1_HUMAN FAD-dependent oxidoreductase domain containing 1 20 integral to membrane|mitochondrion oxidoreductase activity|protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 15 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729) CGGAGGCCAGGCACGCGCAGA 0.617000 28 54 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40330198 40330198 + Missense_Mutation SNP T T C TCGA-IM-A41Z-01A-11D-A23M-08 TCGA-IM-A41Z-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc9b09-16d9-4f75-afd4-202d31227e7e 8569bd7b-8d5c-4618-9226-586227528f73 g.chr17:40330198T>C ENST00000264661.3 - 4 837 c.505A>G c.(505-507)Aga>Gga p.R169G KCNH4_ENST00000607371.1_Missense_Mutation_p.R169G NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 169 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CTCCGTCTTCTGGCAGACCGA 0.592000 40 96 0 0 1 0 0 SRSF11 9295 broad.mit.edu 37 1 70694137 70694137 + Missense_Mutation SNP G G A TCGA-IM-A41Z-01A-11D-A23M-08 TCGA-IM-A41Z-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc9b09-16d9-4f75-afd4-202d31227e7e 8569bd7b-8d5c-4618-9226-586227528f73 g.chr1:70694137G>A ENST00000370950.3 + 3 318 c.236G>A c.(235-237)tGc>tAc p.C79Y SRSF11_ENST00000454435.2_Missense_Mutation_p.C79Y|SRSF11_ENST00000405432.1_Missense_Mutation_p.C79Y|SRSF11_ENST00000370951.1_Missense_Mutation_p.C79Y|SRSF11_ENST00000436161.2_Missense_Mutation_p.C79Y Q05519 SRS11_HUMAN serine/arginine-rich splicing factor 11 79 RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding large_intestine(3)|ovary(2)|skin(1) 6 TCTCGTGTCTGCTTTGTTAAG 0.378000 9 107 0 0 1 0 0 RP5-998N21.4 0 broad.mit.edu 37 1 149377834 149377839 + RNA DEL TCTTTG TCTTTG - TCGA-IM-A41Z-01A-11D-A23M-08 TCGA-IM-A41Z-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc9b09-16d9-4f75-afd4-202d31227e7e 8569bd7b-8d5c-4618-9226-586227528f73 g.chr1:149377834_149377839delTCTTTG ENST00000415338.1 - 0 1061 GTATCTCTTCTCTTTGTCTTTTTCTG 0.461 3 6 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906584 35906586 + In_Frame_Del DEL CCA CCA - TCGA-IM-A41Z-01A-11D-A23M-08 TCGA-IM-A41Z-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc9b09-16d9-4f75-afd4-202d31227e7e 8569bd7b-8d5c-4618-9226-586227528f73 g.chr9:35906584_35906586delCCA ENST00000354323.2 + 1 396_398 c.300_302delCCA c.(298-303)ctc>ct p.LH100del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 100 His-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 ctcaccacctccaccaccaccac 0.660 8 20 --- --- --- --- AGAP4 119016 broad.mit.edu 37 10 46342668 46342688 + In_Frame_Del DEL GCTCCTGCCATCCTGTCCCCA GCTCCTGCCATCCTGTCCCCA - TCGA-IM-A41Z-01A-11D-A23M-08 TCGA-IM-A41Z-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc9b09-16d9-4f75-afd4-202d31227e7e 8569bd7b-8d5c-4618-9226-586227528f73 g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA ENST00000448048.2 - 1 233_253 c.108_128delTGGGGACAGGATGGCAGGAGC c.(106-129)gcg>gc p.AGDRMAGA36del AGAP4_ENST00000430779.2_5'UTR NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 36 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.G37_A43delGDRMAGA(1) central_nervous_system(1)|lung(1)|ovary(1) 3 AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT 0.588 4 6 --- --- --- --- RRN3P1 0 broad.mit.edu 37 16 21817398 21817399 + RNA INS - - A rs144931984 by1000genomes TCGA-IM-A41Z-01A-11D-A23M-08 TCGA-IM-A41Z-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc9b09-16d9-4f75-afd4-202d31227e7e 8569bd7b-8d5c-4618-9226-586227528f73 g.chr16:21817398_21817399insA ENST00000546471.1 - 0 1607 TAAATGaaaataaaaaaataaa 0.302 7 7 --- --- --- --- AP001347.6 0 broad.mit.edu 37 21 15436915 15436915 + RNA DEL G G - TCGA-IM-A41Z-01A-11D-A23M-08 TCGA-IM-A41Z-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc9b09-16d9-4f75-afd4-202d31227e7e 8569bd7b-8d5c-4618-9226-586227528f73 g.chr21:15436915delG ENST00000428809.1 + 0 177 CCCCTGGGACGGGGGCCTTGG 0.687 5 9 --- --- --- ---