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 ZC3H4 23211 broad.mit.edu 37 19 47597770 47597770 + Missense_Mutation SNP T T C TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr19:47597770T>C ENST00000253048.5 - 3 294 c.257A>G c.(256-258)aAg>aGg p.K86R ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 86 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) CTTCTCCCCCTTTTCTTTCCG 0.527000 4 298 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12542283 12542283 + Missense_Mutation SNP A A G TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr19:12542283A>G ENST00000301547.5 - 4 900 c.703T>C c.(703-705)Tct>Cct p.S235P CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 235 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 CTGTAAAAAGAAAAGGCTTTA 0.378000 3 155 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 3 76 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q 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 3 22 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19750895 19750895 + Splice_Site SNP T T C TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr19:19750895T>C ENST00000203556.4 - 7 673 c.537_splice c.e7+1 p.Q179_splice GMIP_ENST00000587238.1_Splice_Site_p.Q179_splice|GMIP_ENST00000445806.2_Splice_Site_p.Q179_splice NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 179 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CCCCCTCACCTGGTAGTAGTC 0.577000 11 32 0 0 1 0 0 TRUB1 142940 broad.mit.edu 37 10 116698112 116698112 + Missense_Mutation SNP A A C TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr10:116698112A>C ENST00000298746.3 + 1 161 c.100A>C c.(100-102)Acc>Ccc p.T34P NM_139169.4 NP_631908.1 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase family member 1 34 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding p.T34P(1) breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) AATGGCTGCGACCCCGTCAGC 0.637000 3 4 0 0 1 0 0 TRIM8 81603 broad.mit.edu 37 10 104416787 104416787 + Silent SNP G G A TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr10:104416787G>A ENST00000302424.6 + 6 1454 c.1332G>A c.(1330-1332)tcG>tcA p.S444S NM_030912.2 NP_112174.2 Q9BZR9 TRIM8_HUMAN tripartite motif containing 8 444 cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TCCCCCCATCGCAGTATCCCA 0.657000 3 70 0 0 1 0 0 CACNG7 59284 broad.mit.edu 37 19 54416099 54416099 + Missense_Mutation SNP G G T TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr19:54416099G>T ENST00000391767.1 + 2 226 c.14G>T c.(13-15)aGc>aTc p.S5I CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.S5I|CACNG7_ENST00000391766.1_Missense_Mutation_p.S5I P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 5 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) AGTCACTGCAGCAGCCGCGCC 0.637000 OREG0003671 type=REGULATORY REGION|Gene=CACNG7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 3 72 0.115264 0.115264 1 1 0 EIF3L 51386 broad.mit.edu 37 22 38251638 38251638 + Silent SNP A A G TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr22:38251638A>G ENST00000412331.2 + 4 942 c.360A>G c.(358-360)ccA>ccG p.P120P EIF3L_ENST00000381683.6_Silent_p.P120P|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Intron NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 120 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CCATTGCTCCACAGGTTGGCA 0.448000 10 29 0 0 1 0 0 ARFGAP2 84364 broad.mit.edu 37 11 47189578 47189578 + Missense_Mutation SNP A A G TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr11:47189578A>G ENST00000524782.1 - 12 1315 c.1087T>C c.(1087-1089)Ttt>Ctt p.F363L ARFGAP2_ENST00000426335.2_Missense_Mutation_p.F227L|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.F256L|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.F94L NM_001242832.1|NM_032389.4 NP_001229761.1|NP_115765.2 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating protein 2 363 Required for interaction with coatomer. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 CCTAAGGAAAAGGGATTGTCC 0.512000 3 61 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21801427 21801427 + Silent SNP A A G TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr1:21801427A>G ENST00000318220.6 + 11 1855 c.807A>G c.(805-807)aaA>aaG p.K269K NBPF3_ENST00000454000.2_Silent_p.K255K|NBPF3_ENST00000318249.5_Silent_p.K325K|NBPF3_ENST00000342104.5_Silent_p.K325K Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 325 NBPF 1. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AGGAAGAAAAAGGGCCAGTGT 0.398000 3 194 0 0 1 0 0 ESPN 83715 broad.mit.edu 37 1 6511719 6511719 + Missense_Mutation SNP G G C TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr1:6511719G>C ENST00000377828.1 + 9 2140 c.1972G>C c.(1972-1974)Gag>Cag p.E658Q ESPN_ENST00000416731.1_Missense_Mutation_p.E92Q|ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000461727.1_Missense_Mutation_p.E92Q NM_031475.2 NP_113663.2 B1AK53 ESPN_HUMAN espin 658 Pro-rich.|WH2. sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) GCTACTGGCTGAGATTAAGGC 0.637000 5 22 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846006 18846006 + RNA SNP A A G TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr22:18846006A>G ENST00000412938.1 + 0 3364 GCGCAGGCCGACACTCACTGA 0.617000 3 50 0 0 1 0 0 HSF4 3299 broad.mit.edu 37 16 67203680 67203680 + Missense_Mutation SNP T T C TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr16:67203680T>C ENST00000264009.8 + 15 2436 c.1471T>C c.(1471-1473)Tcc>Ccc p.S491P HSF4_ENST00000421453.1_Missense_Mutation_p.S461P|HSF4_ENST00000521374.1_Missense_Mutation_p.S491P|HSF4_ENST00000584272.1_Missense_Mutation_p.S461P NM_001040667.2 NP_001035757.1 Q9ULV5 HSF4_HUMAN heat shock transcription factor 4 491 response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) AGCCAGTCCCTCCCCCTAAGA 0.662000 OREG0023873 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 109 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10401807 10401807 + Splice_Site SNP G G T TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr3:10401807G>T ENST00000397077.1 - 12 2100 c.1524_splice c.e12-1 p.P509_splice ATP2B2_ENST00000383800.4_Splice_Site_p.P509_splice|ATP2B2_ENST00000360273.2_Splice_Site_p.P554_splice|ATP2B2_ENST00000352432.4_Splice_Site_p.P554_splice|ATP2B2_ENST00000343816.4_Splice_Site_p.P540_splice Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 554 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 TTCTCTGGGGGCTGCAGAGAG 0.677000 6 64 0.00116845 0.00124383 1 1 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 4 160 0 0 1 0 0 VGLL3 389136 broad.mit.edu 37 3 87017837 87017837 + Silent SNP T T C TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr3:87017837T>C ENST00000398399.2 - 3 1203 c.840A>G c.(838-840)acA>acG p.T280T VGLL3_ENST00000383698.3_Silent_p.T280T NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GTTCTGTCTTTGTGATGTCAC 0.557000 9 29 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 141 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 3 79 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151171242 151171242 + Silent SNP G G A TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr3:151171242G>A ENST00000282466.3 - 3 644 c.645C>T c.(643-645)taC>taT p.Y215Y NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 215 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTCCATGCAGGTAAAGGCTGT 0.413000 3 107 0 0 1 0 0 SP140L 93349 broad.mit.edu 37 2 231223784 231223784 + Missense_Mutation SNP T T C TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr2:231223784T>C ENST00000243810.6 + 4 376 c.376T>C c.(376-378)Ttc>Ctc p.F126L SP140L_ENST00000444636.1_Missense_Mutation_p.F126L|SP140L_ENST00000415673.2_Missense_Mutation_p.F126L|SP140L_ENST00000458341.1_Missense_Mutation_p.F39L|SP140L_ENST00000396563.4_Missense_Mutation_p.F126L Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 126 HSR. nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 GGAAGCACTGTTCAGCGAGGT 0.388000 3 159 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72845826 72845826 + Missense_Mutation SNP G G C TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr16:72845826G>C ENST00000268489.5 - 6 4313 c.3641C>G c.(3640-3642)gCt>gGt p.A1214G ZFHX3_ENST00000397992.5_Missense_Mutation_p.A300G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1214 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GATCTCCTCAGCTGTTTTTGG 0.542000 123 227 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50812344 50812344 + Missense_Mutation SNP G G A TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr19:50812344G>A ENST00000440075.2 + 42 5917 c.5870G>A c.(5869-5871)gGc>gAc p.G1957D MYH14_ENST00000596571.1_Missense_Mutation_p.G1916D|MYH14_ENST00000262269.8_Missense_Mutation_p.G1957D|MYH14_ENST00000425460.1_Missense_Mutation_p.G1924D|MYH14_ENST00000376970.2_Missense_Mutation_p.G1949D|MYH14_ENST00000598205.1_Missense_Mutation_p.G1924D|MYH14_ENST00000601313.1_Missense_Mutation_p.G1957D Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1916 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GCTCAGGCCGGCCGCCGGAGG 0.627000 3 100 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 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 29 63 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8397110 8397110 + Missense_Mutation SNP C C G TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr17:8397110C>G ENST00000360416.3 - 32 4288 c.4150G>C c.(4150-4152)Gag>Cag p.E1384Q MYH10_ENST00000396239.1_Missense_Mutation_p.E1374Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1369Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E1353Q NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1353 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TCCTCCTCCTCCTGCTGCTCC 0.587000 3 52 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr2:109087883_109087884insA ENST00000309863.6 + 6 2812_2813 c.2098_2099insA c.(2098-2100)aaafs p.K700fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 700 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTCAGTTCAGAAAAAAAACAG 0.307 7 214 --- --- --- --- CCDC74B-AS1 0 broad.mit.edu 37 2 130893081 130893081 + RNA DEL A A - TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr2:130893081delA ENST00000427638.1 + 0 542 NR_033903.1 actccatctcaaaaaaaaaaa 0.562 3 3 --- --- --- --- FAM66B 0 broad.mit.edu 37 8 7196263 7196264 + RNA DEL AC AC - TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr8:7196263_7196264delAC ENST00000606573.1 - 0 703 ACTGAGGGGTacacacacacac 0.500 3 6 --- --- --- --- SERPINB11 89778 broad.mit.edu 37 18 61388270 61388271 + RNA DEL AC AC - TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr18:61388270_61388271delAC ENST00000544088.1 + 0 836 SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GTGCATGTTAACACACACACAC 0.386 5 8 --- --- --- --- CLASRP 11129 broad.mit.edu 37 19 45567607 45567609 + In_Frame_Del DEL CTC CTC - TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr19:45567607_45567609delCTC ENST00000544944.2 + 12 1820_1822 c.1128_1130delCTC c.(1126-1131)cgc>cg p.RS376del CLASRP_ENST00000391953.4_In_Frame_Del_p.RS314del|CLASRP_ENST00000221455.3_In_Frame_Del_p.RS376del Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 376 Arg-rich. mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 GCAGCCGCCGctcctcctcctcc 0.744 2 4 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000397887.3_Intron NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 7 98 --- --- --- ---