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 THTPA 0 broad.mit.edu 37 14 24026160 24026160 + Missense_Mutation SNP A A G TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr14:24026160A>G ENST00000288014.6 + 1 930 c.194A>G c.(193-195)aAa>aGa p.K65R THTPA_ENST00000404535.3_Missense_Mutation_p.K65R|THTPA_ENST00000554789.1_Missense_Mutation_p.K65R|THTPA_ENST00000556015.1_Missense_Mutation_p.K65R|RP11-66N24.4_ENST00000556354.1_RNA|THTPA_ENST00000554970.1_Missense_Mutation_p.K65R|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA Q9BU02 THTPA_HUMAN thiamine triphosphatase 65 dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process cytosol|nucleolus|soluble fraction thiamin-triphosphatase activity large_intestine(1)|prostate(2) 3 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00643) Thiamine(DB00152) TGGGAGCTCAAATGTCCTGGA 0.572000 15 27 0 0 1 0 0 CACNB4 785 broad.mit.edu 37 2 152732968 152732968 + Nonsense_Mutation SNP C C A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr2:152732968C>A ENST00000360283.6 - 4 648 c.391G>T c.(391-393)Gaa>Taa p.E131* CACNB4_ENST00000427385.1_Nonsense_Mutation_p.E147*|CACNB4_ENST00000397327.2_Nonsense_Mutation_p.E118*|CACNB4_ENST00000539935.1_Nonsense_Mutation_p.E165*|CACNB4_ENST00000201943.5_Nonsense_Mutation_p.E165*|CACNB4_ENST00000534999.1_Nonsense_Mutation_p.E131* O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 165 SH3. axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) CTTTTTTGTTCTTGCTGGATC 0.408000 10 16 1.5842e-08 1.74262e-08 1 1 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 4 156 0 0 1 0 0 SERPINE3 647174 broad.mit.edu 37 13 51918393 51918393 + Missense_Mutation SNP A A G TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr13:51918393A>G ENST00000524365.1 + 5 887 c.262A>G c.(262-264)Agg>Ggg p.R88G SERPINE3_ENST00000521255.1_Missense_Mutation_p.R88G|SERPINE3_ENST00000400389.4_Missense_Mutation_p.R88G A8MV23 SERP3_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 88 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2) 2 CACAGACAAAAGGGTGAAAGA 0.488000 3 40 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95549369 95549369 + Missense_Mutation SNP C C G TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr8:95549369C>G ENST00000297591.5 - 4 352 c.277G>C c.(277-279)Gat>Cat p.D93H KIAA1429_ENST00000421249.2_Missense_Mutation_p.D93H|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D93H NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 93 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GTATTCTCATCATATTCCAGG 0.333000 4 145 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41573977 41573977 + Missense_Mutation SNP C C T TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr22:41573977C>T ENST00000263253.7 + 31 7481 c.6262C>T c.(6262-6264)Cgg>Tgg p.R2088W RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 2088 Interaction with HTLV-1 Tax.|Interaction with NCOA2. Interaction with NCOA2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CATCAAGCAGCGGGCTGCCAA 0.602000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 30 56 0 0 1 0 0 UACA 55075 broad.mit.edu 37 15 70959376 70959376 + Missense_Mutation SNP T T C TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr15:70959376T>C ENST00000322954.6 - 16 3832 c.3647A>G c.(3646-3648)aAa>aGa p.K1216R UACA_ENST00000379983.2_Missense_Mutation_p.K1203R|UACA_ENST00000539319.1_Missense_Mutation_p.K1107R|UACA_ENST00000560441.1_Missense_Mutation_p.K1201R NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 1216 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 CTCTAATTTTTTTAATGCTTG 0.338000 18 61 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45293750 45293750 + Missense_Mutation SNP G G A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr1:45293750G>A ENST00000447098.2 - 14 1834 c.1823C>T c.(1822-1824)gCc>gTc p.A608V PTCH2_ENST00000372192.3_Missense_Mutation_p.A608V NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 608 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CTGGCTGCTGGCTTCACAGTG 0.627000 Basal Cell Nevus syndrome 16 172 0 0 1 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 6 33 0 0 1 0 0 CNST 163882 broad.mit.edu 37 1 246810985 246810985 + Silent SNP A A G TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr1:246810985A>G ENST00000366513.4 + 9 1751 c.1482A>G c.(1480-1482)ggA>ggG p.G494G CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Silent_p.G494G NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 494 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 ACAGTGATGGAAAATCACCAC 0.473000 8 78 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37881014 37881014 + Silent SNP T T C TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr17:37881014T>C ENST00000406381.2 + 22 2763 c.2253T>C c.(2251-2253)taT>taC p.Y751Y ERBB2_ENST00000584601.1_Silent_p.Y751Y|ERBB2_ENST00000584450.1_Silent_p.Y781Y|ERBB2_ENST00000541774.1_Silent_p.Y766Y|ERBB2_ENST00000540147.1_Silent_p.Y751Y|ERBB2_ENST00000445658.2_Silent_p.Y505Y|ERBB2_ENST00000269571.5_Silent_p.Y781Y NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 781 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GCTCCCCATATGTCTCCCGCC 0.597000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 27 65 0 0 1 0 0 KIF25 0 broad.mit.edu 37 6 168430272 168430272 + Missense_Mutation SNP T T A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr6:168430272T>A ENST00000443060.2 + 3 398 c.7T>A c.(7-9)Tgg>Agg p.W3R KIF25_ENST00000354419.2_Missense_Mutation_p.W3R|KIF25_ENST00000351261.3_Missense_Mutation_p.W3R Q9UIL4 KIF25_HUMAN kinesin family member 25 3 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity p.W3R(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CCAGATGACATGGACCTCAGG 0.612000 4 178 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 6 43 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234237163 234237163 + Silent SNP C C T TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr2:234237163C>T ENST00000409110.1 + 8 782 c.552C>T c.(550-552)gcC>gcT p.A184A SAG_ENST00000449594.2_Silent_p.A50A NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 184 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) TACAGCATGCCCCACTTGAGA 0.587000 7 140 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24460518 24460518 + Silent SNP G G A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr22:24460518G>A ENST00000398319.2 + 15 2290 c.1905G>A c.(1903-1905)ctG>ctA p.L635L CABIN1_ENST00000263119.5_Silent_p.L635L|CABIN1_ENST00000405822.2_Silent_p.L585L NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 635 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AGCAGGCCCTGGAGAACTATG 0.532000 9 329 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 6 150 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25439071 25439071 + Missense_Mutation SNP C C T TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr20:25439071C>T ENST00000278886.6 - 22 3864 c.3791G>A c.(3790-3792)cGc>cAc p.R1264H NINL_ENST00000422516.1_Missense_Mutation_p.R915H|NINL_ENST00000464285.1_5'UTR NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 1264 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding p.R1264L(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 GCTGAGCAGGCGATGCAGCTC 0.667000 12 42 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62851156 62851156 + Missense_Mutation SNP A A T TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr20:62851156A>T ENST00000536311.1 + 13 2507 c.2143A>T c.(2143-2145)Agc>Tgc p.S715C MYT1_ENST00000328439.1_Missense_Mutation_p.S688C|MYT1_ENST00000360149.4_Missense_Mutation_p.S390C Q01538 MYT1_HUMAN myelin transcription factor 1 688 Ser-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) cagcagcagcagctgcagcag 0.602000 3 32 0 0 1 0 0 CALCOCO1 57658 broad.mit.edu 37 12 54118947 54118947 + Missense_Mutation SNP T T C TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr12:54118947T>C ENST00000548263.1 - 2 128 c.80A>G c.(79-81)aAc>aGc p.N27S CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.N27S|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.N27S|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.N27S Q9P1Z2 CACO1_HUMAN calcium binding and coiled-coil domain 1 27 N-terminal AD (CTNNB1 binding site) (By similarity).|p300 KIX-binding (By similarity). steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding p.N27S(1) NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 CACCTTGGTGTTGGGGATGTA 0.542000 13 83 0 0 1 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100452768 100452768 + Silent SNP A A G TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr12:100452768A>G ENST00000279907.7 - 14 2499 c.2287T>C c.(2287-2289)Ttg>Ctg p.L763L UHRF1BP1L_ENST00000545232.2_Silent_p.L413L NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 763 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 TTCCGCTTCAATCGGCCAGCC 0.408000 49 127 0 0 1 0 0 CYP27B1 1594 broad.mit.edu 37 12 58159257 58159257 + Missense_Mutation SNP G G A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr12:58159257G>A ENST00000228606.4 - 3 621 c.412C>T c.(412-414)Cgc>Tgc p.R138C RP11-571M6.13_ENST00000546609.1_RNA|CYP27B1_ENST00000546496.1_5'UTR NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 138 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) AGGAGACTGCGGAGCCTTTGC 0.672000 OREG0021953 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 14 0 0 1 0 0 KCNJ10 3766 broad.mit.edu 37 1 160011538 160011538 + Missense_Mutation SNP G G A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr1:160011538G>A ENST00000368089.3 - 2 1011 c.785C>T c.(784-786)aCc>aTc p.T262I KCNJ10_ENST00000509700.1_Intron NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 262 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAAGGGACTGGTCTCATCTAC 0.522000 5 111 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36275140 36275140 + Silent SNP G G A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr19:36275140G>A ENST00000007510.4 + 16 1632 c.1488G>A c.(1486-1488)tcG>tcA p.S496S ARHGAP33_ENST00000378944.5_Silent_p.S360S|ARHGAP33_ENST00000314737.5_Silent_p.S496S O14559 RHG33_HUMAN Rho GTPase activating protein 33 496 Rho-GAP. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 GGGTGCAGTCGGTGGTGGTGG 0.672000 55 109 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30694423 30694423 + Missense_Mutation SNP C C T TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr8:30694423C>T ENST00000256246.2 - 3 8302 c.8228G>A c.(8227-8229)cGg>cAg p.R2743Q NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2743 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AATTGGCTGCCGAAAATTAGA 0.408000 6 138 0 0 1 0 0 IL17RC 84818 broad.mit.edu 37 3 9962224 9962224 + Missense_Mutation SNP G G A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr3:9962224G>A ENST00000295981.3 + 6 946 c.728G>A c.(727-729)cGa>cAa p.R243Q IL17RC_ENST00000403601.3_Missense_Mutation_p.R172Q|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000383812.4_Missense_Mutation_p.R172Q|IL17RC_ENST00000413608.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000416074.2_Missense_Mutation_p.R43Q NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 243 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 AGTGAGGTACGAATCTGGTCC 0.592000 6 28 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542963 14542963 + Missense_Mutation SNP C C T TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr18:14542963C>T ENST00000358970.5 - 1 182 c.183G>A c.(181-183)atG>atA p.M61I POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 61 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AACACTTGCCCATCTTGCTCC 0.577000 36 316 0 0 1 0 0 AKAP12 9590 broad.mit.edu 37 6 151672836 151672836 + Missense_Mutation SNP G G C TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr6:151672836G>C ENST00000402676.2 + 4 3550 c.3310G>C c.(3310-3312)Gag>Cag p.E1104Q AKAP12_ENST00000359755.5_Missense_Mutation_p.E999Q|AKAP12_ENST00000253332.1_Missense_Mutation_p.E1104Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1006Q NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 1104 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GGCAAAAACTGAGCCTTTTAC 0.502000 3 51 0 0 1 0 0 LRFN3 79414 broad.mit.edu 37 19 36431457 36431457 + Missense_Mutation SNP C C G TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr19:36431457C>G ENST00000588831.1 + 3 2184 c.1130C>G c.(1129-1131)gCt>gGt p.A377G LRFN3_ENST00000246529.3_Missense_Mutation_p.A377G Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 377 Ig-like. cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GAGGCCACAGCTGCTGTGGAG 0.662000 8 29 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102072013 102072013 + Silent SNP T T A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr12:102072013T>A ENST00000549145.1 + 28 3361 c.3261T>A c.(3259-3261)ccT>ccA p.P1087P MYBPC1_ENST00000547509.1_Silent_p.P1042P|MYBPC1_ENST00000361685.2_Silent_p.P1081P|MYBPC1_ENST00000553190.1_Silent_p.P1056P|MYBPC1_ENST00000551300.1_Silent_p.P957P|MYBPC1_ENST00000550270.1_Silent_p.P1074P|MYBPC1_ENST00000360610.2_Silent_p.P1074P|MYBPC1_ENST00000547405.1_Silent_p.P1030P|MYBPC1_ENST00000545503.2_Silent_p.P1056P|MYBPC1_ENST00000541119.1_Silent_p.P1044P|MYBPC1_ENST00000536007.1_Silent_p.P1037P|MYBPC1_ENST00000452455.2_Silent_p.P1074P|MYBPC1_ENST00000441232.1_Silent_p.P1074P|MYBPC1_ENST00000392934.3_Silent_p.P1043P|MYBPC1_ENST00000361466.2_Silent_p.P1081P|MYBPC1_ENST00000550501.1_Intron Q00872 MYPC1_HUMAN myosin binding protein C, slow type 1074 Ig-like C2-type 7. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 GAGGAAATCCTAAGGTACCAT 0.398000 53 124 0 0 1 0 0 SLMO2 51012 broad.mit.edu 37 20 57613539 57613539 + Silent SNP C C T TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr20:57613539C>T ENST00000355937.4 - 2 361 c.183G>A c.(181-183)ctG>ctA p.L61L SLMO2_ENST00000371033.5_Silent_p.L61L NM_016045.2 NP_057129.2 Q9Y3B1 SLMO2_HUMAN slowmo homolog 2 (Drosophila) 61 PRELI/MSF1. endometrium(1)|lung(2)|skin(2) 5 all_lung(29;0.00711) Colorectal(105;0.109) CAATGGAAGGCAGTCCCCACT 0.443000 5 121 0 0 1 0 0 NSA2 10412 broad.mit.edu 37 5 74069862 74069862 + Missense_Mutation SNP C C T TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr5:74069862C>T ENST00000296802.5 + 5 1061 c.692C>T c.(691-693)aCa>aTa p.T231I NM_014886.3 NP_055701.1 O95478 NSA2_HUMAN NSA2 ribosome biogenesis homolog (S. cerevisiae) 231 rRNA processing nucleolus|ribonucleoprotein complex breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1) 7 GGCCTTGTGACACAAGGAGGC 0.383000 10 148 0 0 1 0 0 MOCOS 55034 broad.mit.edu 37 18 33840082 33840082 + Missense_Mutation SNP A A G TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr18:33840082A>G ENST00000261326.5 + 13 2374 c.2353A>G c.(2353-2355)Agg>Ggg p.R785G MOCOS_ENST00000588132.1_3'UTR NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 785 MOSC. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) CAATGGAAAAAGGGCTTTTGA 0.393000 3 158 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 3 69 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18872504 18872504 + Missense_Mutation SNP G G C rs140550681 TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr12:18872504G>C ENST00000447925.2 - 5 693 c.424C>G c.(424-426)Cta>Gta p.L142V PLCZ1_ENST00000541695.1_Missense_Mutation_p.L7V|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_Missense_Mutation_p.L144V NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 144 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TTAAACAGTAGACATTCACGT 0.264000 16 40 0 0 1 0 0 POTEM 641455 broad.mit.edu 37 14 20019998 20019998 + Missense_Mutation SNP T T C TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr14:20019998T>C ENST00000551509.1 - 1 274 c.223A>G c.(223-225)Agc>Ggc p.S75G NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 75 endometrium(4)|kidney(1)|lung(4) 9 CTCTTGCCGCTCCCCCTGCAC 0.587000 5 382 0 0 1 0 0 TUBBP1 0 broad.mit.edu 37 8 30210383 30210383 + RNA SNP C C T TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr8:30210383C>T ENST00000518096.1 + 0 995 CTCACAGTGCCGGAACTCACC 0.597000 10 118 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846025 18846025 + RNA SNP G G C rs5993363 TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr22:18846025G>C ENST00000412938.1 + 0 3383 GACGTTGAAGGCTGCCTTCAG 0.647000 3 111 0 0 1 0 0 TYK2 7297 broad.mit.edu 37 19 10468472 10468472 + Nonsense_Mutation SNP C C A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr19:10468472C>A ENST00000525621.1 - 17 2915 c.2434G>T c.(2434-2436)Gag>Tag p.E812* TYK2_ENST00000264818.6_Nonsense_Mutation_p.E812*|TYK2_ENST00000524462.1_Nonsense_Mutation_p.E627*|TYK2_ENST00000529370.1_Nonsense_Mutation_p.E812* NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 812 Protein kinase 1. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) AGAGGGGCCTCTCCGTCAAAG 0.642000 10 21 0.000978159 0.00102474 1 1 0 DENND3 22898 broad.mit.edu 37 8 142178473 142178473 + Silent SNP G G A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr8:142178473G>A ENST00000519811.1 + 13 2194 c.2124G>A c.(2122-2124)ccG>ccA p.P708P DENND3_ENST00000262585.2_Silent_p.P628P|DENND3_ENST00000424248.1_Silent_p.P576P A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 628 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TGGACAAGCCGCACGAGGCCT 0.612000 30 50 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70152481 70152481 + Silent SNP A A G rs141618560 TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr4:70152481A>G ENST00000335568.5 + 3 884 c.882A>G c.(880-882)gaA>gaG p.E294E UGT2B28_ENST00000511240.1_Silent_p.E294E NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 294 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.E294E(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AAATGGAGGAATTTGTACAGA 0.393000 3 176 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64604565 64604565 + Missense_Mutation SNP A A C TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr14:64604565A>C ENST00000357395.3 + 80 15006 c.3862A>C c.(3862-3864)Aaa>Caa p.K1288Q SYNE2_ENST00000344113.4_Missense_Mutation_p.K4903Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.K4903Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.K4820Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.K1288Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1537Q Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4903 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GAACGAAGGCAAACAGTTGGT 0.408000 28 74 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142572878 142572878 + Missense_Mutation SNP C C A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr7:142572878C>A ENST00000359396.3 - 9 1407 c.1162G>T c.(1162-1164)Ggg>Tgg p.G388W NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 388 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) ACCAGCTCCCCGACCAGCCGG 0.567000 3 129 1 1 1 1 0 PGLYRP4 57115 broad.mit.edu 37 1 153314146 153314146 + Silent SNP G G A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr1:153314146G>A ENST00000368739.3 - 6 928 c.570C>T c.(568-570)ggC>ggT p.G190G PGLYRP4_ENST00000359650.5_Silent_p.G194G Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 194 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GGCAGTTCTCGCCTTTCCCAA 0.572000 48 123 0 0 1 0 0 EXOC1 55763 broad.mit.edu 37 4 56762964 56762964 + Missense_Mutation SNP G G C TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr4:56762964G>C ENST00000381295.2 + 16 2383 c.2035G>C c.(2035-2037)Gaa>Caa p.E679Q EXOC1_ENST00000349598.6_Missense_Mutation_p.E664Q|EXOC1_ENST00000346134.7_Missense_Mutation_p.E679Q NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 679 exocytosis|protein transport exocyst protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) TGCTGAATTTGAAGAATTTGC 0.368000 3 63 0 0 1 0 0 TSSK2 23617 broad.mit.edu 37 22 19119476 19119476 + Missense_Mutation SNP G G C TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr22:19119476G>C ENST00000399635.2 + 1 1156 c.564G>C c.(562-564)caG>caC p.Q188H DGCR14_ENST00000252137.6_3'UTR NM_053006.4 NP_443732.3 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 188 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) AGGTGCTGCAGAGCATCCCCT 0.602000 34 96 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32089285 32089285 + Missense_Mutation SNP A A G TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr5:32089285A>G ENST00000438447.1 + 20 6119 c.5731A>G c.(5731-5733)Acg>Gcg p.T1911A PDZD2_ENST00000282493.3_Missense_Mutation_p.T1911A O15018 PDZD2_HUMAN PDZ domain containing 2 1911 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGCTGGGGGGACGGACCACAG 0.582000 4 99 0 0 1 0 0 SSH2 85464 broad.mit.edu 37 17 27963805 27963805 + Missense_Mutation SNP G G T TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr17:27963805G>T ENST00000269033.3 - 14 1513 c.1362C>A c.(1360-1362)aaC>aaA p.N454K SSH2_ENST00000540801.1_Missense_Mutation_p.N481K|RP11-68I3.2_ENST00000581474.1_RNA NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 454 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCCATAGTTTGTTATGCCGCT 0.448000 12 142 5.50884e-06 5.96038e-06 1 1 0 POM121L9P 0 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 18 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37017250 37017250 + Missense_Mutation SNP C C G rs149451089 TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr5:37017250C>G ENST00000282516.8 + 24 5405 c.4906C>G c.(4906-4908)Cgc>Ggc p.R1636G NIPBL_ENST00000448238.2_Missense_Mutation_p.R1636G NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1636 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ATCTATAGAACGCATTTTAAA 0.333000 8 34 0 0 1 0 0 FAM120B 84498 broad.mit.edu 37 6 170667405 170667405 + Splice_Site SNP A A T TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr6:170667405A>T ENST00000476287.1 + 6 2390 c.2283_splice c.e6+1 p.Q761_splice FAM120B_ENST00000540480.1_Splice_Site_p.Q773_splice|FAM120B_ENST00000537664.1_Splice_Site_p.Q784_splice|FAM120B_ENST00000252510.9_Splice_Site_p.Q93_splice NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 761 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) GTAAATCTACAGGTACAGACG 0.493000 5 17 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940608 144940608 + Missense_Mutation SNP C C T TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr8:144940608C>T ENST00000525985.1 - 2 6885 c.6814G>A c.(6814-6816)Gtc>Atc p.V2272I P58107 EPIPL_HUMAN epiplakin 1 2272 cytoplasm|cytoskeleton protein binding|structural molecule activity p.V2272I(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGGTCGATGACGAAGCCGGTG 0.716000 5 41 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128467314 128467314 + Missense_Mutation SNP G G A rs139877926 TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr2:128467314G>A ENST00000322313.4 - 19 3583 c.3425C>T c.(3424-3426)gCg>gTg p.A1142V NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1142 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TCCTCGGGCCGCTTCCTCAGA 0.577000 4 131 0 0 1 0 0 SACM1L 22908 broad.mit.edu 37 3 45745007 45745007 + Missense_Mutation SNP C C A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr3:45745007C>A ENST00000389061.5 + 2 314 c.110C>A c.(109-111)tCc>tAc p.S37Y SACM1L_ENST00000541314.1_Missense_Mutation_p.P19T|SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000464524.1_3'UTR NM_014016.3 NP_054735.3 Q9NTJ5 SAC1_HUMAN SAC1 suppressor of actin mutations 1-like (yeast) 37 Golgi apparatus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) GACCGTGTGTCCACAGAGGTT 0.353000 36 71 1.61863e-15 1.81067e-15 1 1 0 CROCCP2 0 broad.mit.edu 37 1 16957305 16957306 + RNA INS - - C rs139092192 by1000genomes TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr1:16957305_16957306insC ENST00000412962.1 - 0 294 CCCCAGACACGCCCCCACCCCC 0.663 7 4 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 8 123 --- --- --- --- GOLIM4 27333 broad.mit.edu 37 3 167747642 167747644 + In_Frame_Del DEL CTG CTG - rs61743912 byFrequency TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr3:167747642_167747644delCTG ENST00000470487.1 - 10 2046_2048 c.1357_1359delCAG c.(1357-1359)del p.Q453del GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 453 Gln-rich.|Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTCTTGCCACctgctgctgctgc 0.640 7 66 --- --- --- --- TFAM 7019 broad.mit.edu 37 10 60148570 60148570 + Frame_Shift_Del DEL A A - rs78912196 TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr10:60148570delA ENST00000487519.1 + 4 958 c.432delA c.(430-432)acfs p.T144fs TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs NM_003201.1 NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial 144 DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 AAGCTATGACAAAAAAAAAAG 0.269 8 92 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89717713 89717715 + In_Frame_Del DEL GTT GTT - TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr10:89717713_89717715delGTT ENST00000371953.3 + 7 2095_2097 c.738_740delGTT c.(736-741)cca>cc p.PL246del PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 246 C2 tensin-type. P -> L (in CD and BZS). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.P246fs*10(3)|p.L247fs*10(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.L247fs*11(1)|p.L247fs*12(1)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.F243fs*9(1)|p.L247fs*8(1)|p.L247fs*4(1)|p.P246_L247insGP(1)|p.L247L(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TCCCTCAGCCGTTACCTGTGTGT 0.409 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 28 89 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr10:102763415_102763417delCCT ENST00000370220.1 + 2 3623_3625 c.560_562delCCT c.(559-564)gcc>g p.AS187del LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 187 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGGGGCCCTGcctcctcctcctc 0.650 9 267 --- --- --- --- LINC00987 0 broad.mit.edu 37 12 9392739 9392740 + RNA INS - - TCTTCCTCCTCC rs71045240 TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr12:9392739_9392740insTCTTCCTCCTCC ENST00000427111.3 + 0 141_142 NR_036466.1 caccatcaccttcttcctcccc 0.545 4 8 --- --- --- --- KRT18 3875 broad.mit.edu 37 12 53344130 53344156 + In_Frame_Del DEL GACAATGCCCGCATCGTTCTGCAGATT GACAATGCCCGCATCGTTCTGCAGATT - rs59979366 byFrequency TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr12:53344130_53344156delGACAATGCCCGCATCGTTCTGCAGATT ENST00000550600.1 + 3 490_516 c.436_462delGACAATGCCCGCATCGTTCTGCAGATT c.(436-462)del p.DNARIVLQI146del KRT18_ENST00000388835.3_In_Frame_Del_p.DNARIVLQI146del|KRT18_ENST00000388837.2_In_Frame_Del_p.DNARIVLQI146del P05783 K1C18_HUMAN keratin 18 146 Coil 1B.|Necessary for interaction with PNN.|Rod. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 11 AAATACTGTGGACAATGCCCGCATCGTTCTGCAGATTGACAATGCCC 0.498 7 759 --- --- --- --- SOX9 6662 broad.mit.edu 37 17 70120224 70120226 + In_Frame_Del DEL AGC AGC - TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr17:70120224_70120226delAGC ENST00000245479.2 + 3 1598_1600 c.1226_1228delAGC c.(1225-1230)gag>g p.EQ409del NM_000346.3 NP_000337.1 P48436 SOX9_HUMAN SRY (sex determining region Y)-box 9 409 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) CACTACAGCGAGCAGCAGCAGCA 0.650 8 277 --- --- --- --- CHIC1 53344 broad.mit.edu 37 X 72783280 72783282 + In_Frame_Del DEL GAG GAG - TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chrX:72783280_72783282delGAG ENST00000373504.6 + 1 245_247 c.160_162delGAG c.(160-162)del p.E68del CHIC1_ENST00000373502.5_In_Frame_Del_p.E68del Q5VXU3 CHIC1_HUMAN cysteine-rich hydrophobic domain 1 68 Poly-Glu. cytoplasmic membrane-bounded vesicle|plasma membrane endometrium(1)|large_intestine(1)|lung(2) 4 Renal(35;0.156) agaggaggaagaggaggaggagg 0.635 4 4 --- --- --- --- PDZD4 57595 broad.mit.edu 37 X 153072793 153072793 + Frame_Shift_Del DEL C C - TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chrX:153072793delC ENST00000164640.4 - 3 519 c.328delG c.(328-330)cgfs p.A110fs PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000393758.2_Frame_Shift_Del_p.A35fs|PDZD4_ENST00000544474.1_Intron NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 110 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATAAACTCCGCCGGGTCATAA 0.667 9 18 --- --- --- ---