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 MSL3P1 0 broad.mit.edu 37 2 234775676 234775676 + RNA SNP C C T TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr2:234775676C>T ENST00000438684.1 - 0 438 NR_024322.1 GCTGAAAAGGCTGCACTGATA 0.438000 32 44 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55593619 55593619 + Missense_Mutation SNP A A G rs121913510 TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr4:55593619A>G ENST00000288135.5 + 11 1782 c.1685A>G c.(1684-1686)gAg>gGg p.E562G NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 562 male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.K558_E562del(10)|p.V560_L576del(4)|p.Y553_T574>S(3)|p.V559_G565del(3)|p.V555_I571del(3)|p.V555_P573del(3)|p.Q556_L576del(2)|p.W557_P573>S(2)|p.K558_N564del(2)|p.W557_Q575del(2)|p.V555_E562del(2)|p.V555_G565del(1)|p.Q556_N566>SNNLQLY(1)|p.V555_I563del(1)|p.E561_P577del(1)|p.E562_P573del(1)|p.K558_G565del(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.V555_Y570del(1)|p.V559_E562del(1)|p.M552_T574>TESA(1)|p.K558_G565>R(1)|p.V559_I571del(1)|p.Q556_D572>PS(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V559_N564del(1)|p.E562V(1)|p.Q556_D572del(1)|p.K558_L576>NV(1)|p.V559_P573>A(1)|p.V560_I571del(1)|p.W557_I571del(1)|p.V559_L576del(1)|p.E554_N564del(1)|p.K558_D572del(1)|p.Q556_D572>H(1)|p.K558_Y570>N(1)|p.M552_D572del(1)|p.Q556_T574del(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.E554_E562del(1) NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GTTGTTGAGGAGATAAATGGA 0.378000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 33 65 0 0 1 0 0 TRDMT1 1787 broad.mit.edu 37 10 17204166 17204166 + Splice_Site SNP T T A TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr10:17204166T>A ENST00000377799.3 - 4 369 c.323_splice c.e4+1 p.R108_splice TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000351358.4_Intron|TRDMT1_ENST00000412821.3_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000457442.2_Splice_Site_p.R49_splice|TRDMT1_ENST00000452380.2_5'UTR NM_004412.5 NP_004403.1 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 108 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 18 AGTTTTTACCTTGGGAGAATA 0.368000 6 199 0 0 1 0 0 PTK7 0 broad.mit.edu 37 6 43128465 43128465 + Missense_Mutation SNP A A G TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr6:43128465A>G ENST00000230419.4 + 20 3280 c.3059A>G c.(3058-3060)cAg>cGg p.Q1020R PTK7_ENST00000349241.2_Missense_Mutation_p.Q890R|PTK7_ENST00000481273.1_Missense_Mutation_p.Q1028R|PTK7_ENST00000345201.2_Missense_Mutation_p.Q980R|PTK7_ENST00000352931.2_Missense_Mutation_p.Q964R NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 1020 Interaction with CTNNB1.|Protein kinase; inactive. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) ACAGATTTGCAGGCTGGGAAG 0.562000 4 115 0 0 1 0 0 SMOC2 64094 broad.mit.edu 37 6 169053869 169053869 + Missense_Mutation SNP G G A TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr6:169053869G>A ENST00000354536.5 + 11 1499 c.1279G>A c.(1279-1281)Gcg>Acg p.A427T SMOC2_ENST00000356284.2_Missense_Mutation_p.A416T NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 416 signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) CCTGGGCGTGGCGAAAGAGGA 0.532000 7 60 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12291284 12291284 + Silent SNP T T C TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr12:12291284T>C ENST00000261349.4 - 16 3658 c.3582A>G c.(3580-3582)gtA>gtG p.V1194V BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Silent_p.V1194V NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 1194 Beta-propeller 4. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) TCAGCTCCTTTACTGCATGAA 0.358000 87 102 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98575905 98575905 + Silent SNP T T A TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr7:98575905T>A ENST00000359863.4 + 56 8645 c.8436T>A c.(8434-8436)gcT>gcA p.A2812A TRRAP_ENST00000446306.3_Silent_p.A2794A|TRRAP_ENST00000355540.3_Silent_p.A2794A NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2812 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCTCCCCTGCTATTTTCCCTG 0.413000 18 81 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152621853 152621853 + Missense_Mutation SNP T T C TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr6:152621853T>C ENST00000367255.5 - 93 18206 c.17605A>G c.(17605-17607)Acc>Gcc p.T5869A SYNE1_ENST00000423061.1_Missense_Mutation_p.T5798A|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5869A|SYNE1_ENST00000341594.5_Missense_Mutation_p.T5481A|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5798A|SYNE1_ENST00000356820.4_Missense_Mutation_p.T393A NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5869 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCACTGTTGGTTCCCTCCTCC 0.527000 HNSCC(10;0.0054) 4 23 0 0 1 0 0 KIR3DX1 0 broad.mit.edu 37 19 55047064 55047064 + Silent SNP C C A TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr19:55047064C>A ENST00000335056.3 + 4 647 c.609C>A c.(607-609)cgC>cgA p.R203R KIR3DX1_ENST00000482404.1_3'UTR endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) GTCACTCCCGCTATGAGTGGT 0.562000 8 76 0.000442599 0.000463676 1 1 0 ACRBP 84519 broad.mit.edu 37 12 6749667 6749667 + Nonsense_Mutation SNP G G A TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr12:6749667G>A ENST00000229243.2 - 7 1192 c.1099C>T c.(1099-1101)Cga>Tga p.R367* ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Nonsense_Mutation_p.R334* NM_032489.2 NP_115878.2 Q8NEB7 ACRBP_HUMAN acrosin binding protein 367 acrosomal vesicle|extracellular region NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1) 17 GACATGTGTCGCCGCCCAAGG 0.632000 10 18 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48621040 48621040 + Silent SNP A A G TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr3:48621040A>G ENST00000328333.8 - 40 4457 c.4350T>C c.(4348-4350)tcT>tcC p.S1450S COL7A1_ENST00000454817.1_Silent_p.S1450S NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1450 Interrupted collagenous region.|Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTCCATCCTCAGAGTCACCCT 0.627000 18 28 0 0 1 0 0 ADAM32 203102 broad.mit.edu 37 8 39131835 39131835 + Missense_Mutation SNP A A G TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr8:39131835A>G ENST00000379907.4 + 21 2333 c.2206A>G c.(2206-2208)Agc>Ggc p.S736G ADAM32_ENST00000524303.1_3'UTR|ADAM32_ENST00000437682.2_Missense_Mutation_p.S637G|ADAM32_ENST00000519315.1_Intron NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 736 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) TTTTAGATCCAGCTCAGAAGG 0.313000 28 51 0 0 1 0 0 SSTR3 0 broad.mit.edu 37 22 37603631 37603631 + Missense_Mutation SNP C C T TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr22:37603631C>T ENST00000328544.3 - 2 745 c.212G>A c.(211-213)cGg>cAg p.R71Q SSTR3_ENST00000402501.1_Missense_Mutation_p.R71Q NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 71 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 GGCCGTGTGCCGCAGGACCAC 0.647000 15 79 0 0 1 0 0 CKMT1B 1159 broad.mit.edu 37 15 43890406 43890406 + Missense_Mutation SNP C C G TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr15:43890406C>G ENST00000300283.6 + 8 1284 c.892C>G c.(892-894)Caa>Gaa p.Q298E CKMT1B_ENST00000441322.1_Missense_Mutation_p.Q298E NM_020990.3 NP_066270.1 P12532 KCRU_HUMAN creatine kinase, mitochondrial 1B 298 Phosphagen kinase C-terminal. creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity large_intestine(1)|lung(3)|skin(1) 5 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) GAGACTTATCCAAGAACGTGG 0.483000 37 204 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 31 68 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 20 10 0 0 1 0 0 CKMT1B 1159 broad.mit.edu 37 15 43890426 43890426 + Missense_Mutation SNP C C G TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr15:43890426C>G ENST00000300283.6 + 8 1304 c.912C>G c.(910-912)ttC>ttG p.F304L CKMT1B_ENST00000441322.1_Missense_Mutation_p.F304L NM_020990.3 NP_066270.1 P12532 KCRU_HUMAN creatine kinase, mitochondrial 1B 304 Phosphagen kinase C-terminal. creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity large_intestine(1)|lung(3)|skin(1) 5 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) GCTGGGAGTTCATGTGGAATG 0.488000 34 195 0 0 1 0 0 OR5T1 390155 broad.mit.edu 37 11 56043515 56043515 + Missense_Mutation SNP G G A rs140678740 TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr11:56043515G>A ENST00000313033.2 + 1 487 c.401G>A c.(400-402)cGc>cAc p.R134H NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) GCTTATGATCGCTATGTAGCC 0.413000 71 129 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1053504 1053504 + Missense_Mutation SNP G G A TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr19:1053504G>A ENST00000263094.6 + 24 3628 c.3397G>A c.(3397-3399)Ggg>Agg p.G1133R ABCA7_ENST00000435683.2_Missense_Mutation_p.G995R|ABCA7_ENST00000433129.1_Missense_Mutation_p.G1133R NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1133 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACTGGCTACGGGATCTCCGA 0.647000 5 7 0 0 1 0 0 F2R 2149 broad.mit.edu 37 5 76028379 76028379 + Missense_Mutation SNP C C A TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr5:76028379C>A ENST00000319211.4 + 2 594 c.329C>A c.(328-330)aCc>aAc p.T110N NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 110 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) TCTGTGTACACCGGAGTGTTT 0.493000 6 163 0.00198382 0.00202995 1 1 0 DHX16 8449 broad.mit.edu 37 6 30624869 30624869 + Splice_Site SNP C C A TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr6:30624869C>A ENST00000376442.3 - 13 2203 c.2007_splice c.e13-1 p.V670_splice DHX16_ENST00000376437.5_Splice_Site_p.V189_splice NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 670 Helicase C-terminal. mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 GCCACAACCACCTGAGTGATA 0.483000 3 47 1 1 1 1 0 NBEA 26960 broad.mit.edu 37 13 35683539 35683539 + Missense_Mutation SNP T T G TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr13:35683539T>G ENST00000540320.1 + 12 2327 c.1793T>G c.(1792-1794)aTt>aGt p.I598S NBEA_ENST00000400445.3_Missense_Mutation_p.I598S|NBEA_ENST00000379939.2_Missense_Mutation_p.I598S|NBEA_ENST00000310336.4_Missense_Mutation_p.I598S Q8NFP9 NBEA_HUMAN neurobeachin 598 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) TGTGATCACATTTTATTTAAC 0.348000 3 69 0 0 1 0 0 KRT2 3849 broad.mit.edu 37 12 53045435 53045435 + Silent SNP G G A TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr12:53045435G>A ENST00000309680.3 - 1 513 c.492C>T c.(490-492)aaC>aaT p.N164N NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 164 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) CAACTTTCACGTTGAGAGGCT 0.527000 17 94 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150934619 150934619 + Missense_Mutation SNP G G A rs148408413 TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr1:150934619G>A ENST00000271640.5 + 17 3333 c.3143G>A c.(3142-3144)cGa>cAa p.R1048Q SETDB1_ENST00000368969.4_Missense_Mutation_p.R1048Q NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 1048 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) ACTGACGACCGAAACAAGATG 0.443000 4 220 0 0 1 0 0 RBM19 9904 broad.mit.edu 37 12 114400045 114400045 + Missense_Mutation SNP G G A TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr12:114400045G>A ENST00000545145.2 - 2 289 c.211C>T c.(211-213)Cgg>Tgg p.R71W RBM19_ENST00000392561.3_Missense_Mutation_p.R71W|RBM19_ENST00000261741.5_Missense_Mutation_p.R71W NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 71 RRM 1. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) ACTGTGATCCGGGATGTGTCG 0.493000 13 97 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179426430 179426430 + Silent SNP A A T TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr2:179426430A>T ENST00000589042.1 - 326 84653 c.84429T>A c.(84427-84429)tcT>tcA p.S28143S TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.S19203S|TTN_ENST00000342992.6_Silent_p.S25575S|TTN_ENST00000342175.6_Silent_p.S19270S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Silent_p.S26502S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.S19078S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26502 Fibronectin type-III 105. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAACAGCTGAAGATTCACTGT 0.458000 16 38 0 0 1 0 0 SRRT 51593 broad.mit.edu 37 7 100484040 100484040 + Missense_Mutation SNP C C T TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr7:100484040C>T ENST00000388793.4 + 13 1848 c.1628C>T c.(1627-1629)aCg>aTg p.T543M SRRT_ENST00000347433.4_Missense_Mutation_p.T544M|SRRT_ENST00000457580.2_Missense_Mutation_p.T544M|SRRT_ENST00000432932.1_Missense_Mutation_p.T543M NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 544 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding p.T544M(1) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GAACCAGGGACGCCTCCCCTG 0.582000 5 13 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228476440 228476440 + Missense_Mutation SNP G G A TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr1:228476440G>A ENST00000570156.2 + 43 11551 c.11477G>A c.(11476-11478)cGt>cAt p.R3826H OBSCN_ENST00000366707.4_Missense_Mutation_p.R516H|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2244H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R516H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3397H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3397H NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2863 Ig-like 39. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGAAGGGGCGTGAGAGCCTC 0.622000 32 73 0 0 1 0 0 R3HDM1 23518 broad.mit.edu 37 2 136389573 136389573 + Splice_Site SNP T T A TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr2:136389573T>A ENST00000264160.4 + 9 1068 c.e9+2 R3HDM1_ENST00000409606.1_Splice_Site|R3HDM1_ENST00000329971.3_Splice_Site|R3HDM1_ENST00000409478.1_Splice_Site|R3HDM1_ENST00000410054.1_Splice_Site NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) TACAAGAATGTAAGTGTCAAG 0.323000 17 63 0 0 1 0 0 PAK2 5062 broad.mit.edu 37 3 196547347 196547347 + Missense_Mutation SNP A A G TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr3:196547347A>G ENST00000327134.3 + 13 1581 c.1259A>G c.(1258-1260)tAt>tGt p.Y420C NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 420 Protein kinase. axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) CGGAAAGCTTATGGCCCTAAA 0.498000 17 86 0 0 1 0 0 TFCP2L1 29842 broad.mit.edu 37 2 122004453 122004453 + Missense_Mutation SNP C C T TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr2:122004453C>T ENST00000263707.5 - 6 695 c.598G>A c.(598-600)Gag>Aag p.E200K NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 200 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.E200K(1) cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) TCCCCATTCTCGTTCTGCTTA 0.587000 43 61 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108004005 108004005 + Missense_Mutation SNP C C T TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr12:108004005C>T ENST00000280758.5 + 5 2210 c.1682C>T c.(1681-1683)gCg>gTg p.A561V BTBD11_ENST00000490090.2_Missense_Mutation_p.A561V|BTBD11_ENST00000420571.2_Missense_Mutation_p.A561V|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Missense_Mutation_p.A98V NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 561 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AAGCTGGATGCGGTGGCCATC 0.582000 OREG0022090 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 135 0 0 1 0 0 SAA2 6289 broad.mit.edu 37 11 18266989 18266989 + Missense_Mutation SNP T T C TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr11:18266989T>C ENST00000526900.1 - 4 487 c.304A>G c.(304-306)Aaa>Gaa p.K102E SAA2_ENST00000530400.1_Intron|SAA2_ENST00000529528.1_Missense_Mutation_p.K102E|SAA2_ENST00000528349.1_Intron|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000256733.4_Missense_Mutation_p.K102E serum amyloid A2 p.K102E(2) central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1) 6 CTGCCCCATTTATTGGCAGCC 0.572000 3 82 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119112379 119112379 + Missense_Mutation SNP A A G TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr3:119112379A>G ENST00000264245.4 + 8 1479 c.947A>G c.(946-948)gAc>gGc p.D316G NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 316 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 TCTGGATCAGACTCCAAATCA 0.383000 39 60 0 0 1 0 0 RP11-13J8.1 0 broad.mit.edu 37 2 201967196 201967197 + RNA INS - - A rs77338628 TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr2:201967196_201967197insA ENST00000448256.1 + 0 606_607 gactctgtctcaaaaaaaaaaa 0.455 4 4 --- --- --- --- RP11-584P21.2 0 broad.mit.edu 37 4 68311853 68311855 + RNA DEL GAG GAG - TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr4:68311853_68311855delGAG ENST00000502400.1 - 0 34 TCTCTATGGCGAGGAGGAGGAGG 0.547 2 4 --- --- --- --- PTGES 9536 broad.mit.edu 37 9 132501992 132501992 + Frame_Shift_Del DEL C C - TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr9:132501992delC ENST00000340607.4 - 3 391 c.357delG c.(355-357)ggfs p.G119fs PTGES_ENST00000481476.1_5'UTR NM_004878.4 NP_004869.1 O14684 PTGES_HUMAN prostaglandin E synthase 119 prostaglandin biosynthetic process|signal transduction integral to membrane|membrane fraction glutathione binding|prostaglandin-E synthase activity lung(1)|skin(1) 2 Ovarian(14;0.00556) CCCGCAGCTTCCCCAGGTAGG 0.647 2 4 --- --- --- --- ANGPTL5 253935 broad.mit.edu 37 11 101762018 101762020 + In_Frame_Del DEL AAT AAT - rs143415747 byFrequency TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr11:101762018_101762020delAAT ENST00000334289.3 - 9 1752_1754 c.1157_1159delATT c.(1156-1161)ttt>t p.YF386del NM_178127.4 NP_835228.2 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 386 signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) GATTATTTAAAATATGGATTGTA 0.276 23 45 --- --- --- --- TTBK2 146057 broad.mit.edu 37 15 43038236 43038244 + In_Frame_Del DEL AGACGTGCG AGACGTGCG - TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr15:43038236_43038244delAGACGTGCG ENST00000267890.6 - 15 3592_3600 c.3484_3492delCGCACGTCT c.(3484-3492)del p.RTS1162del NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1162 Ser-rich. cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) GTGAGGAACTAGACGTGCGAGGCAAGGAT 0.574 9 86 --- --- --- --- AXIN2 8313 broad.mit.edu 37 17 63533510 63533510 + Frame_Shift_Del DEL C C - TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr17:63533510delC ENST00000307078.5 - 6 1957 c.1644delG c.(1642-1644)gafs p.E548fs AXIN2_ENST00000375702.5_Frame_Shift_Del_p.E548fs NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 548 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 AGCAGTAATACTCGCTGCCCC 0.617 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 52 101 --- --- --- --- ETFB 0 broad.mit.edu 37 19 51853591 51853591 + Frame_Shift_Del DEL A A - TCGA-DU-A7TC-01A-21D-A34J-08 TCGA-DU-A7TC-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 680f3e13-d149-4785-b545-8acc85ae8a8d 2442dab3-2483-4124-aab0-e24aadf30f71 g.chr19:51853591delA ENST00000354232.4 - 3 3170 c.703delT c.(703-705)ggfs p.W235fs ETFB_ENST00000309244.4_Frame_Shift_Del_p.W144fs|CTD-2616J11.9_ENST00000600974.1_RNA NM_001014763.1 NP_001014763.1 P38117 ETFB_HUMAN electron-transfer-flavoprotein, beta polypeptide 144 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity kidney(2)|large_intestine(1)|lung(3) 6 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661) ACCTGTGGCCAGTCAAGAAAT 0.527 15 12 --- --- --- ---