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 SLC35G3 146861 broad.mit.edu 37 17 33521307 33521307 + Missense_Mutation SNP T T C TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr17:33521307T>C ENST00000297307.5 - 1 105 c.20A>G c.(19-21)tAt>tGt p.Y7C NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 7 integral to membrane CTGGTTGAAATAGGGGTGACT 0.632000 3 45 0 0 1 0 0 FAM83F 113828 broad.mit.edu 37 22 40417409 40417409 + Missense_Mutation SNP G G A TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr22:40417409G>A ENST00000333407.5 + 4 989 c.895G>A c.(895-897)Gac>Aac p.D299N FAM83F_ENST00000473717.1_3'UTR NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F 299 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 CGAGGAGGTGGACTTGTACCG 0.592000 13 116 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1267146 1267146 + Silent SNP G G A TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr11:1267146G>A ENST00000447027.1 + 31 9103 c.9045G>A c.(9043-9045)ccG>ccA p.P3015P MUC5B_ENST00000529681.1_Silent_p.P3012P|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3012 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CGGCCATCCCGTCCTCCACCC 0.642000 31 82 0 0 1 0 0 MFSD6 54842 broad.mit.edu 37 2 191301245 191301245 + Missense_Mutation SNP C C T rs116097269 byFrequency TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr2:191301245C>T ENST00000392328.1 + 3 814 c.490C>T c.(490-492)Cgc>Tgc p.R164C MFSD6_ENST00000281416.7_Missense_Mutation_p.R164C NM_017694.3 NP_060164.3 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing 6 164 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1) 23 ACCAAAGATTCGCCCAACAAC 0.428000 4 78 0 0 1 0 0 TRAX 0 broad.mit.edu 37 1 231696959 231696959 + Silent SNP A A G TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr1:231696959A>G ENST00000602962.1 + 5 611 c.453A>G c.(451-453)caA>caG p.Q151Q TSNAX_ENST00000366639.4_Silent_p.Q151Q TTAATAAACAATTGATATTTA 0.289000 13 30 0 0 1 0 0 HELLS 3070 broad.mit.edu 37 10 96361328 96361328 + Missense_Mutation SNP A A G TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr10:96361328A>G ENST00000348459.5 + 22 2571 c.2466A>G c.(2464-2466)atA>atG p.I822M HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.I868M|HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_Missense_Mutation_p.I724M NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 822 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) AGATGGGGATATTCAAGATAT 0.303000 9 50 0 0 1 0 0 RIMS3 9783 broad.mit.edu 37 1 41098767 41098767 + Missense_Mutation SNP C C T TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr1:41098767C>T ENST00000372684.3 - 5 915 c.446G>A c.(445-447)cGa>cAa p.R149Q RIMS3_ENST00000372683.1_Missense_Mutation_p.R149Q NM_014747.2 NP_055562.2 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 149 neurotransmitter transport cell junction|synapse NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) CAGTGTCTGTCGCCCCACAAT 0.592000 76 69 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 94 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10023795 10023795 + Silent SNP G G A TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr20:10023795G>A ENST00000378380.3 + 3 701 c.372G>A c.(370-372)ccG>ccA p.P124P ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Silent_p.P124P|SNAP25-AS1_ENST00000421143.2_RNA NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 GCATTTTACCGACTAAGCGGC 0.378000 23 44 0 0 1 0 0 DFNB31 25861 broad.mit.edu 37 9 117185766 117185766 + Missense_Mutation SNP G G A rs79572315 byFrequency TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr9:117185766G>A ENST00000362057.3 - 7 1622 c.1454C>T c.(1453-1455)cCg>cTg p.P485L DFNB31_ENST00000265134.6_Missense_Mutation_p.P102L|DFNB31_ENST00000374059.3_Missense_Mutation_p.P134L NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 485 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TAGGTCTTGCGGGGAAATGGT 0.637000 4 74 0 0 1 0 0 PCID2 55795 broad.mit.edu 37 13 113854783 113854783 + Missense_Mutation SNP C C A TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr13:113854783C>A ENST00000375457.2 - 2 674 c.78G>T c.(76-78)ttG>ttT p.L26F PCID2_ENST00000246505.5_Missense_Mutation_p.L28F|PCID2_ENST00000351317.3_Missense_Mutation_p.L28F|PCID2_ENST00000375477.1_Missense_Mutation_p.L28F|PCID2_ENST00000375459.1_Missense_Mutation_p.L26F|PCID2_ENST00000375479.2_Missense_Mutation_p.L28F|PCID2_ENST00000337344.4_Missense_Mutation_p.L28F NM_001258213.1 NP_001245142.1 Q5JVF3 PCID2_HUMAN PCI domain containing 2 28 negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10) 20 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) TAAAAGACACCAACTCTGCAC 0.423000 5 63 0.00198382 0.00198382 1 1 0 NEB 4703 broad.mit.edu 37 2 152390825 152390825 + Silent SNP G G A TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr2:152390825G>A ENST00000427231.2 - 143 21523 c.21321C>T c.(21319-21321)taC>taT p.Y7107Y NEB_ENST00000409198.1_Silent_p.Y5406Y|NEB_ENST00000604864.1_Silent_p.Y7107Y|NEB_ENST00000397345.3_Intron|NEB_ENST00000172853.10_Silent_p.Y5406Y|NEB_ENST00000603639.1_Intron NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 5406 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AATCAGCTCTGTATTTTTTCT 0.443000 5 72 0 0 1 0 0 CCDC155 147872 broad.mit.edu 37 19 49920492 49920492 + Missense_Mutation SNP G G A TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr19:49920492G>A ENST00000447857.3 + 19 1721 c.1516G>A c.(1516-1518)Ggc>Agc p.G506S NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 506 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 GAGGGCCTGGGGCCAGCTCTG 0.652000 7 15 0 0 1 0 0 KCNJ14 3770 broad.mit.edu 37 19 48967816 48967816 + Missense_Mutation SNP G G A rs144271715 TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr19:48967816G>A ENST00000391884.1 + 2 1569 c.1093G>A c.(1093-1095)Gag>Aag p.E365K KCNJ14_ENST00000342291.2_Missense_Mutation_p.E365K Q9UNX9 IRK14_HUMAN potassium inwardly-rectifying channel, subfamily J, member 14 365 voltage-gated potassium channel complex inward rectifier potassium channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222) CAGTGCTAAGGAGCTGGATGA 0.547000 3 41 0 0 1 0 0 SLC25A45 283130 broad.mit.edu 37 11 65144072 65144072 + Missense_Mutation SNP T T C TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr11:65144072T>C ENST00000417511.2 - 10 1681 c.547A>G c.(547-549)Atc>Gtc p.I183V SLC25A45_ENST00000527174.1_Missense_Mutation_p.I225V|SLC25A45_ENST00000526432.1_Missense_Mutation_p.I163V|SLC25A45_ENST00000360662.3_Missense_Mutation_p.I201V|SLC25A45_ENST00000294187.6_Missense_Mutation_p.I183V|SLC25A45_ENST00000377152.2_Missense_Mutation_p.I121V|SLC25A45_ENST00000398802.1_Missense_Mutation_p.I225V|SLC25A45_ENST00000534028.1_Missense_Mutation_p.I201V NM_001278251.1 NP_001265180.1 Q8N413 S2545_HUMAN solute carrier family 25, member 45 225 transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 CGGGACTTGATCATGTCTAAG 0.617000 29 33 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr3:126707544T>G ENST00000393409.2 + 1 108 c.108T>G c.(106-108)ggT>ggG p.G36G PLXNA1_ENST00000251772.4_Silent_p.G13G NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 36 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.G13G(4) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.682000 7 21 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 4 68 0.00024832 0.000256883 1 1 0 PIH1D2 120379 broad.mit.edu 37 11 111942472 111942472 + Missense_Mutation SNP T T C TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr11:111942472T>C ENST00000530641.1 - 3 513 c.188A>G c.(187-189)gAa>gGa p.E63G PIH1D2_ENST00000528775.1_Missense_Mutation_p.E63G|PIH1D2_ENST00000431456.1_Missense_Mutation_p.E63G|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000280350.4_Missense_Mutation_p.E63G|PIH1D2_ENST00000532211.1_Missense_Mutation_p.E63G Q8WWB5 PIHD2_HUMAN PIH1 domain containing 2 63 endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 11 all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508) AAGTATTTTTTCTTTTGGTTT 0.428000 10 23 0 0 1 0 0 RTP1 132112 broad.mit.edu 37 3 186917353 186917353 + Missense_Mutation SNP G G T TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr3:186917353G>T ENST00000312295.4 + 2 317 c.287G>T c.(286-288)tGg>tTg p.W96L RP11-208N14.4_ENST00000356133.3_RNA NM_153708.2 NP_714919.2 P59025 RTP1_HUMAN receptor (chemosensory) transporter protein 1 96 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) CACTGCTCCTGGTGCTGGCAC 0.652000 53 50 4.88482e-21 5.63634e-21 1 1 0 AXIN1 8312 broad.mit.edu 37 16 354424 354424 + Silent SNP C C T TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr16:354424C>T ENST00000262320.3 - 5 1505 c.1134G>A c.(1132-1134)ccG>ccA p.P378P AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Silent_p.P378P NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 378 Interaction with GSK3B (By similarity). activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding p.?(1) biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) GGACCTCCTTCGGCACCCGGT 0.627000 3 37 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101188796 101188796 + Missense_Mutation SNP G G T TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr1:101188796G>T ENST00000294728.2 + 3 662 c.561G>T c.(559-561)gaG>gaT p.E187D VCAM1_ENST00000370119.4_Missense_Mutation_p.E125D|VCAM1_ENST00000347652.2_Missense_Mutation_p.E187D|VCAM1_ENST00000370115.1_Missense_Mutation_p.E187D NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 187 Ig-like C2-type 2. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) CTGTCATTGAGGATATTGGAA 0.418000 19 13 3.51602e-12 3.90668e-12 1 1 0 CEPT1 10390 broad.mit.edu 37 1 111690383 111690383 + Missense_Mutation SNP C C T TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr1:111690383C>T ENST00000545121.1 + 2 255 c.47C>T c.(46-48)cCg>cTg p.P16L CEPT1_ENST00000357172.4_Missense_Mutation_p.P16L NM_001007794.1 NP_001007795.1 Q9Y6K0 CEPT1_HUMAN choline/ethanolamine phosphotransferase 1 16 endoplasmic reticulum membrane|integral to membrane|nuclear membrane diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 8 all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141) Choline(DB00122) GATTCTCACCCGGAGTCCCCA 0.393000 5 45 0 0 1 0 0 TUBB1 81027 broad.mit.edu 37 20 57597953 57597953 + Silent SNP C C T rs150453159 byFrequency TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr20:57597953C>T ENST00000217133.1 + 2 380 c.111C>T c.(109-111)cgC>cgT p.R37R NM_030773.3 NP_110400.1 Q9H4B7 TBB1_HUMAN tubulin, beta 1 class VI 37 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) GGAGCGACCGCGGGGCCTCGG 0.597000 3 46 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94643557 94643560 + Frame_Shift_Del DEL GTGA GTGA - TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr1:94643557_94643560delGTGA ENST00000260526.6 - 21 2826_2829 c.2644_2647delTCAC c.(2644-2649)agfs p.SQ882fs ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 882 Rho-GAP. Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) AAGATCTTCTGTGAGTAAGTAATG 0.446 20 85 --- --- --- --- PLA2R1 0 broad.mit.edu 37 2 160801441 160801442 + Frame_Shift_Ins INS - - T TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr2:160801441_160801442insT ENST00000283243.7 - 28 4325_4326 c.4119_4120insA c.(4117-4122)aagcttfs p.L1374fs PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1374 C-type lectin 8. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CATATAAAGCCTTTTTTTTCTT 0.401 7 118 --- --- --- --- HLA-V 0 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 4 8 --- --- --- --- RP11-34D15.2 0 broad.mit.edu 37 10 102104601 102104601 + RNA DEL T T - TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr10:102104601delT ENST00000429420.1 - 0 103 AAAATCACAAttttttttttt 0.403 3 3 --- --- --- --- WIPF2 147179 broad.mit.edu 37 17 38420969 38420969 + Frame_Shift_Del DEL C C - TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr17:38420969delC ENST00000323571.4 + 5 781 c.541delC c.(541-543)ccfs p.P182fs WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Frame_Shift_Del_p.P182fs|WIPF2_ENST00000585043.1_Frame_Shift_Del_p.P182fs|WIPF2_ENST00000536600.1_Intron NM_133264.4 NP_573571.1 Q8TF74 WIPF2_HUMAN WAS/WASL interacting protein family, member 2 182 Poly-Pro. cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 TCCCCCACCACCCCCAGGGCG 0.647 HNSCC(43;0.11) 10 62 --- --- --- --- ZNF407 55628 broad.mit.edu 37 18 72775591 72775592 + Frame_Shift_Ins INS - - T TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr18:72775591_72775592insT ENST00000299687.5 + 8 5914_5915 c.5914_5915insT c.(5914-5916)tttfs p.F1972fs NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1972 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CAAGCAGGAGATTTTAAACCTC 0.614 6 7 --- --- --- ---