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 FGGY 55277 broad.mit.edu 37 1 59922666 59922666 + Silent SNP T T C TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr1:59922666T>C ENST00000371218.4 + 6 772 c.588T>C c.(586-588)taT>taC p.Y196Y FGGY_ENST00000303721.7_Silent_p.Y196Y|FGGY_ENST00000371212.1_Silent_p.Y108Y|FGGY_ENST00000474476.1_3'UTR NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 196 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) AGTGGACATATTCAGCAGAGA 0.373000 8 62 0 0 1 0 0 ARSJ 79642 broad.mit.edu 37 4 114824011 114824011 + Missense_Mutation SNP T T C TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr4:114824011T>C ENST00000315366.7 - 2 2085 c.1219A>G c.(1219-1221)Ata>Gta p.I407V ARSJ_ENST00000541197.1_Missense_Mutation_p.I407V NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 407 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) CCCTCACTTATGGTCTCCCAG 0.473000 9 131 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29989600 29989600 + Missense_Mutation SNP C C T TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr16:29989600C>T ENST00000308893.4 + 4 1275 c.232C>T c.(232-234)Cgg>Tgg p.R78W TAOK2_ENST00000543033.1_Missense_Mutation_p.R78W|TAOK2_ENST00000279394.3_Missense_Mutation_p.R78W NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 78 Protein kinase. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CAAGGAGGTGCGGTTCTTACA 0.577000 5 302 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175328868 175328868 + Splice_Site SNP C C T TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr1:175328868C>T ENST00000367674.1 - 15 3563 c.e15-1 TNR_ENST00000263525.2_Splice_Site NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TTGTCCATGGCTGAAACAGAA 0.483000 17 32 0 0 1 0 0 SOS2 6655 broad.mit.edu 37 14 50626379 50626379 + Missense_Mutation SNP G G A TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr14:50626379G>A ENST00000216373.5 - 10 1896 c.1622C>T c.(1621-1623)tCt>tTt p.S541F SOS2_ENST00000543680.1_Missense_Mutation_p.S508F|SOS2_ENST00000555794.1_5'UTR NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 541 PH. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity p.S541Y(2) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) ATAATGAAGAGAAATAAGGGC 0.358000 37 57 0 0 1 0 0 EBAG9 9166 broad.mit.edu 37 8 110567042 110567042 + Missense_Mutation SNP C C G TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr8:110567042C>G ENST00000337573.5 + 4 547 c.247C>G c.(247-249)Caa>Gaa p.Q83E EBAG9_ENST00000531677.1_Missense_Mutation_p.Q83E|EBAG9_ENST00000395785.2_Missense_Mutation_p.Q83E|EBAG9_ENST00000529502.1_3'UTR NM_004215.3 NP_004206.1 O00559 RCAS1_HUMAN estrogen receptor binding site associated, antigen, 9 83 apoptosis|regulation of cell growth focal adhesion|Golgi membrane|integral to membrane|soluble fraction apoptotic protease activator activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2) 10 OV - Ovarian serous cystadenocarcinoma(57;1.39e-14) TGTGGCAACACAACAAAATTC 0.388000 8 83 0 0 1 0 0 EPHX2 2053 broad.mit.edu 37 8 27361137 27361137 + Missense_Mutation SNP A A T TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr8:27361137A>T ENST00000521400.1 + 3 633 c.203A>T c.(202-204)gAa>gTa p.E68V EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000521780.1_Missense_Mutation_p.E2V|EPHX2_ENST00000518379.1_Missense_Mutation_p.E68V|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000380476.3_Missense_Mutation_p.E15V NM_001979.5 NP_001970.2 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 68 Phosphatase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) CCACTCATGGAAGAAAACTGC 0.438000 3 15 0 0 1 0 0 PRB4 5545 broad.mit.edu 37 12 11461589 11461589 + Missense_Mutation SNP A A G TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr12:11461589A>G ENST00000279575.1 - 3 361 c.328T>C c.(328-330)Tcc>Ccc p.S110P PRB4_ENST00000535904.1_Missense_Mutation_p.S110P|PRB4_ENST00000445719.2_Missense_Mutation_p.S110P NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 152 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GTACCTTGGGACTGGTTTCCT 0.602000 HNSCC(22;0.051) 9 446 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55221570 55221570 + RNA SNP A A C TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr19:55221570A>C ENST00000413439.1 + 0 1350 TACAGATGCTACGGTGCACAC 0.677000 5 73 0 0 1 0 0 YPEL3 83719 broad.mit.edu 37 16 30106212 30106212 + Silent SNP G G A TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr16:30106212G>A ENST00000562641.1 - 3 811 c.282C>T c.(280-282)aaC>aaT p.N94N YPEL3_ENST00000566595.1_Silent_p.N56N|YPEL3_ENST00000565479.1_5'UTR|YPEL3_ENST00000398841.1_Silent_p.N94N|YPEL3_ENST00000566134.1_Intron|YPEL3_ENST00000563788.1_Silent_p.N56N|YPEL3_ENST00000398838.4_Silent_p.N56N P61236 YPEL3_HUMAN yippee-like 3 (Drosophila) 56 nucleolus p.N94N(1) endometrium(1)|lung(2) 3 CGCAGCCCACGTTCACCCTGT 0.622000 35 46 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78594266 78594266 + Silent SNP C C T TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr12:78594266C>T ENST00000397909.2 + 38 6902 c.6729C>T c.(6727-6729)ttC>ttT p.F2243F NAV3_ENST00000266692.7_Silent_p.F2044F|NAV3_ENST00000536525.2_Silent_p.F2221F|NAV3_ENST00000541270.1_Silent_p.F73F|NAV3_ENST00000228327.6_Silent_p.F2221F Q8IVL0 NAV3_HUMAN neuron navigator 3 2243 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CCCGACTATTCCTTCCTTGCC 0.343000 HNSCC(70;0.22) 29 30 0 0 1 0 0 ZIC2 7546 broad.mit.edu 37 13 100635025 100635025 + Missense_Mutation SNP A A G TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr13:100635025A>G ENST00000376335.3 + 1 1000 c.707A>G c.(706-708)cAc>cGc p.H236R NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 236 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-His. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) caccaccaccaccaccaccac 0.597000 9 75 0 0 1 0 0 C10orf2 56652 broad.mit.edu 37 10 102748581 102748581 + Missense_Mutation SNP T T G TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr10:102748581T>G ENST00000370228.1 + 1 799 c.614T>G c.(613-615)gTc>gGc p.V205G C10orf2_ENST00000311916.2_Missense_Mutation_p.V205G|C10orf2_ENST00000473656.1_Intron NM_001163812.1|NM_001163814.1 NP_001157284.1|NP_001157286.1 Q96RR1 PEO1_HUMAN chromosome 10 open reading frame 2 205 cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) CGCAGTCTTGTCTTCCCTTGG 0.527000 33 36 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132229980 132229980 + Missense_Mutation SNP A A G TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr3:132229980A>G ENST00000260818.6 + 44 5433 c.5185A>G c.(5185-5187)Atg>Gtg p.M1729V NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1729 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 GCACACATTCATGGCCATCAC 0.433000 61 85 0 0 1 0 0 GDNF 2668 broad.mit.edu 37 5 37815925 37815925 + Missense_Mutation SNP G G A TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr5:37815925G>A ENST00000326524.2 - 3 663 c.464C>T c.(463-465)aCg>aTg p.T155M GDNF_ENST00000515058.1_Missense_Mutation_p.T129M|GDNF_ENST00000344622.4_Missense_Mutation_p.T129M|GDNF_ENST00000381826.4_Missense_Mutation_p.T146M|GDNF_ENST00000427982.1_Missense_Mutation_p.T172M NM_000514.3 NP_000505.1 P39905 GDNF_HUMAN glial cell derived neurotrophic factor 155 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2) 15 all_lung(31;0.00118) TTTGTCGTACGTTGTCTCAGC 0.453000 4 107 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35864536 35864536 + Nonsense_Mutation SNP T T A TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr13:35864536T>A ENST00000540320.1 + 35 6321 c.5787T>A c.(5785-5787)tgT>tgA p.C1929* NBEA_ENST00000310336.4_Nonsense_Mutation_p.C1929*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.C1929*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.C1926* Q8NFP9 NBEA_HUMAN neurobeachin 1929 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GCCTTGTTTGTATGAAGTCCA 0.303000 88 117 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64640262 64640262 + Missense_Mutation SNP T T G TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr3:64640262T>G ENST00000498707.1 - 7 1538 c.1196A>C c.(1195-1197)aAa>aCa p.K399T ADAMTS9_ENST00000459780.1_Missense_Mutation_p.K399T|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K371T NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 399 Peptidase M12B. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GGTATCACATTTGTCGTGAGC 0.383000 4 85 0 0 1 0 0 HTR3B 9177 broad.mit.edu 37 11 113802568 113802568 + Missense_Mutation SNP C C T TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr11:113802568C>T ENST00000260191.2 + 4 604 c.347C>T c.(346-348)cCc>cTc p.P116L HTR3B_ENST00000537778.1_Missense_Mutation_p.P105L NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 116 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) ATCTGGGCCCCCGATATCATC 0.448000 27 66 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215896644 215896644 + Missense_Mutation SNP G G A TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr2:215896644G>A ENST00000389661.4 - 1 166 c.8C>T c.(7-9)aCc>aTc p.T3I AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000272895.7_Intron NM_015657.3 NP_056472.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 0 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTTTATATAGGTAAACATTTA 0.368000 5 57 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55221559 55221559 + RNA SNP G G T TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr19:55221559G>T ENST00000413439.1 + 0 1339 ACGGGGGCCAGTACAGATGCT 0.672000 5 68 3.59834e-05 3.77825e-05 1 1 0 TMEM132D 121256 broad.mit.edu 37 12 129569241 129569241 + Missense_Mutation SNP C C G TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr12:129569241C>G ENST00000422113.2 - 6 1776 c.1450G>C c.(1450-1452)Gac>Cac p.D484H TMEM132D_ENST00000389441.4_Missense_Mutation_p.D22H NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 484 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TCACATCTGTCAGAAACCTGT 0.527000 4 27 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 29005322 29005322 + Silent SNP T T C TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr13:29005322T>C ENST00000282397.4 - 7 1190 c.939A>G c.(937-939)gtA>gtG p.V313V FLT1_ENST00000541932.1_Silent_p.V313V|FLT1_ENST00000539099.1_Silent_p.V313V NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 313 Ig-like C2-type 3. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GTCCACTCCTTACACGACAAG 0.378000 4 95 0 0 1 0 0 CCDC136 64753 broad.mit.edu 37 7 128452273 128452273 + Missense_Mutation SNP G G C TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr7:128452273G>C ENST00000297788.4 + 13 2815 c.2448G>C c.(2446-2448)aaG>aaC p.K816N CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 816 Ser-rich. integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 CCTATAAGAAGAGTTACGGCA 0.517000 4 48 0 0 1 0 0 MMP7 4316 broad.mit.edu 37 11 102395783 102395783 + Missense_Mutation SNP G G A TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr11:102395783G>A ENST00000260227.4 - 4 549 c.497C>T c.(496-498)tCc>tTc p.S166F NM_002423.3 NP_002414.1 P09237 MMP7_HUMAN matrix metallopeptidase 7 (matrilysin, uterine) 166 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) AAATGGGTAGGAGTCCCCATG 0.458000 4 43 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419219 105419219 + Missense_Mutation SNP C C T TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr14:105419219C>T ENST00000333244.5 - 7 2688 c.2569G>A c.(2569-2571)Gat>Aat p.D857N AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 857 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCAGACACATCCACCGAGTCC 0.597000 8 415 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39379332 39379332 + Silent SNP C C A TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr7:39379332C>A ENST00000518318.2 + 5 645 c.603C>A c.(601-603)acC>acA p.T201T POU6F2_ENST00000403058.1_Silent_p.T201T|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Silent_p.T193T P78424 PO6F2_HUMAN POU class 6 homeobox 2 201 Gln-rich.|Pro-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CCCCGTCAACCAACCAGCACC 0.682000 10 13 0.000673444 0.000689869 1 1 0 PIH1D2 120379 broad.mit.edu 37 11 111941848 111941848 + Missense_Mutation SNP C C G TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr11:111941848C>G ENST00000530641.1 - 4 786 c.461G>C c.(460-462)aGa>aCa p.R154T PIH1D2_ENST00000280350.4_Missense_Mutation_p.R154T|PIH1D2_ENST00000532211.1_Missense_Mutation_p.R154T|PIH1D2_ENST00000431456.1_Missense_Mutation_p.R154T|PIH1D2_ENST00000528775.1_Missense_Mutation_p.R154T Q8WWB5 PIHD2_HUMAN PIH1 domain containing 2 154 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) TCCTTTTATTCTAAATTTGGT 0.338000 8 80 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43619150 43619150 + Missense_Mutation SNP G G A TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr10:43619150G>A ENST00000355710.3 + 17 3065 c.2833G>A c.(2833-2835)Gtg>Atg p.V945M RET_ENST00000340058.5_Missense_Mutation_p.V945M NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 945 Protein kinase. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) GTGGGAGATCGTGACCCTAGG 0.607000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 78 103 0 0 1 0 0 MUC20 200958 broad.mit.edu 37 3 195453270 195453270 + Missense_Mutation SNP C C G TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr3:195453270C>G ENST00000320736.6 + 3 1409 c.1283C>G c.(1282-1284)cCc>cGc p.P428R MUC20_ENST00000445522.2_Missense_Mutation_p.P564R|MUC20_ENST00000447234.2_Missense_Mutation_p.P599R|MUC20_ENST00000436408.1_Missense_Mutation_p.P599R NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 599 protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) ACCAAGGGGCCCTTCCCCACC 0.597000 14 38 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195717061 195717061 + RNA SNP C C A TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr3:195717061C>A ENST00000427841.1 - 0 89 NR_003264.2 AGGGACTCACCGCCTTGGCCA 0.791000 4 15 0.014758 0.014758 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e 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 28 49 0 0 1 0 0 NECAP1 25977 broad.mit.edu 37 12 8244414 8244414 + Silent SNP C C T TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr12:8244414C>T ENST00000339754.5 + 4 429 c.351C>T c.(349-351)ttC>ttT p.F117F NM_015509.3 NP_056324.2 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 117 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Kidney(36;0.0915) GAGATGCCTTCGACTTTAATG 0.483000 9 17 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 5 14 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946471 16946471 + RNA SNP G G C TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr1:16946471G>C ENST00000412962.1 - 0 1048 CGCTGCAGCTGACTCTGCAGC 0.677000 3 25 0 0 1 0 0 LINC00971 0 broad.mit.edu 37 3 84741479 84741480 + RNA INS - - AA rs59143453 TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr3:84741479_84741480insAA ENST00000484892.1 - 0 2354 NR_033860.1 ACCTGTCCCAGAAAAAAAAAAA 0.386 2 4 --- --- --- --- AC090505.6 0 broad.mit.edu 37 3 194478104 194478104 + RNA DEL C C - TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr3:194478104delC ENST00000423318.1 + 0 940 NR_037891.1 CTACACGCTGCCCCAGGGGTA 0.622 2 4 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1388441 1388442 + Frame_Shift_Ins INS - - CG rs144787346 byFrequency TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr4:1388441_1388442insCG ENST00000324803.4 + 1 3102_3103 c.142_143insCG c.(142-144)gccfs p.A48fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 48 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CTGCTCACACATGCCCATGTGG 0.644 8 598 --- --- --- --- ABCA13 154664 broad.mit.edu 37 7 48315944 48315944 + Frame_Shift_Del DEL A A - TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr7:48315944delA ENST00000435803.1 + 17 6705 c.6681delA c.(6679-6681)ttfs p.L2227fs NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2227 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CTTGGAACTTAAATGATACTG 0.348 2 4 --- --- --- --- KRTAP5-2 440021 broad.mit.edu 37 11 1619173 1619202 + In_Frame_Del DEL CCCCCACAGGAGCCACAGCCCCCCTTGGAG CCCCCACAGGAGCCACAGCCCCCCTTGGAG - rs61869706 by1000genomes TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG ENST00000412090.1 - 1 322_351 c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG c.(277-309)ggt>gg p.GSKGGCGSCGG93del KRTAP5-AS1_ENST00000424148.1_RNA NM_001004325.1 NP_001004325.1 Q701N4 KRA52_HUMAN keratin associated protein 5-2 93 6 X 4 AA repeats of C-C-X-P. keratin filament large_intestine(1)|lung(2)|skin(1) 4 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG 0.657 53 337 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 4 5 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20138376 20138376 + RNA DEL G G - rs57620493 TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr14:20138376delG ENST00000548261.1 + 0 391 ACAaaagaaagaaagaaagaa 0.388 3 3 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102292874 102292876 + RNA DEL CTC CTC - TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr15:102292874_102292876delCTC ENST00000561463.1 + 0 920_922 AGTTCATCTTCTCAGAGCTGCTG 0.581 4 9 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 88 42 --- --- --- --- C21orf58 54058 broad.mit.edu 37 21 47721985 47721986 + In_Frame_Ins INS - - TGG rs144223236 by1000genomes TCGA-DJ-A3VI-01A-11D-A23M-08 TCGA-DJ-A3VI-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ed007d5-19d3-47c8-8c00-463e6be91687 f3358525-8de5-4245-b89b-fd0be1e1d13e g.chr21:47721985_47721986insTGG ENST00000291691.7 - 8 2032_2033 c.896_897insCCA c.(895-897)cgc>cCCAgc p.299_299R>PS C21orf58_ENST00000397679.1_In_Frame_Ins_p.193_193R>PS|C21orf58_ENST00000397683.1_In_Frame_Ins_p.193_193R>PS|C21orf58_ENST00000472607.1_5'UTR|C21orf58_ENST00000397680.1_In_Frame_Ins_p.193_193R>PS|C21orf58_ENST00000397682.3_In_Frame_Ins_p.193_193R>PS NM_058180.3 NP_478060.2 P58505 CU058_HUMAN chromosome 21 open reading frame 58 299 Poly-His. p.H299_A300insH(3) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1) 9 Breast(49;0.112) Colorectal(79;0.239) GCCACACAGCAtggtggtggtg 0.708 4 4 --- --- --- ---