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 LPHN1 22859 broad.mit.edu 37 19 14261877 14261877 + Silent SNP T T G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr19:14261877T>G ENST00000340736.6 - 24 4530 c.4233A>C c.(4231-4233)ccA>ccC p.P1411P CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.P1406P|CTB-55O6.12_ENST00000588658.1_RNA NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 1411 Poly-Pro. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CGGGAGGGGGTGGGGGCAGGG 0.731000 4 6 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56468821 56468821 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr3:56468821G>A ENST00000288221.6 - 2 470 c.215C>T c.(214-216)tCa>tTa p.S72L NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 72 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GTAGGTTGTTGAAGCCACCCC 0.507000 4 215 0 0 1 0 0 EDA 1896 broad.mit.edu 37 X 69253267 69253267 + Silent SNP C C T TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chrX:69253267C>T ENST00000374552.4 + 7 1055 c.813C>T c.(811-813)ctC>ctT p.L271L EDA_ENST00000524573.1_Silent_p.L268L|EDA_ENST00000374553.2_Silent_p.L271L NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 271 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 GTGGAGTGCTCAATGACTGGT 0.478000 OREG0019847 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 273 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38352357 38352357 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr5:38352357G>A ENST00000322350.5 + 5 815 c.469G>A c.(469-471)Gag>Aag p.E157K EGFLAM_ENST00000354891.3_Missense_Mutation_p.E157K NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 157 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TTCGGATTCTGAGGTGGCCCT 0.507000 18 188 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38810529 38810529 + Missense_Mutation SNP T T G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr15:38810529T>G ENST00000310803.5 - 5 662 c.485A>C c.(484-486)gAg>gCg p.E162A RASGRP1_ENST00000559830.1_Missense_Mutation_p.E162A|RASGRP1_ENST00000450598.2_Missense_Mutation_p.E162A|RASGRP1_ENST00000539159.1_Missense_Mutation_p.E114A|RASGRP1_ENST00000561180.1_Missense_Mutation_p.E213A|RASGRP1_ENST00000558164.1_Missense_Mutation_p.E162A NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 162 N-terminal Ras-GEF. cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) ATGTAACTCCTCACCCTTAGC 0.443000 17 13 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36334403 36334403 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr19:36334403G>A ENST00000378910.5 - 17 2304 c.2305C>T c.(2305-2307)Ctc>Ttc p.L769F NPHS1_ENST00000353632.6_Missense_Mutation_p.L769F NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 769 Ig-like C2-type 7. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ATGCCCGGGAGGATGGGATTG 0.572000 5 357 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37882044 37882044 + Missense_Mutation SNP A A G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr17:37882044A>G ENST00000406381.2 + 25 3230 c.2720A>G c.(2719-2721)aAg>aGg p.K907R ERBB2_ENST00000269571.5_Missense_Mutation_p.K937R|ERBB2_ENST00000584601.1_Missense_Mutation_p.K907R|ERBB2_ENST00000584450.1_Missense_Mutation_p.K937R|ERBB2_ENST00000445658.2_Missense_Mutation_p.K661R|ERBB2_ENST00000541774.1_Missense_Mutation_p.K922R|ERBB2_ENST00000540147.1_Missense_Mutation_p.K907R NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 937 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) CTGCTGGAAAAGGGGGAGCGG 0.592000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 4 117 0 0 1 0 0 C15orf27 123591 broad.mit.edu 37 15 76467946 76467946 + Silent SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr15:76467946G>A ENST00000388942.3 + 8 975 c.699G>A c.(697-699)caG>caA p.Q233Q RP11-593F23.1_ENST00000558424.1_RNA NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 233 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 TTATCCAGCAGTACGAGAAGG 0.552000 3 102 0 0 1 0 0 ABI2 10152 broad.mit.edu 37 2 204259430 204259430 + Missense_Mutation SNP T T C TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr2:204259430T>C ENST00000295851.4 + 6 882 c.586T>C c.(586-588)Tcc>Ccc p.S196P ABI2_ENST00000422511.2_Missense_Mutation_p.S196P|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261016.6_Missense_Mutation_p.S145P|ABI2_ENST00000261017.5_Missense_Mutation_p.S190P|ABI2_ENST00000261018.7_Intron|ABI2_ENST00000430418.1_Intron|ABI2_ENST00000424558.1_Missense_Mutation_p.S190P Q9NYB9 ABI2_HUMAN abl-interactor 2 196 Pro-rich. actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation cytoskeleton|cytosol|filopodium|lamellipodium cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 15 TAGGCGGCACTCCCCCTATCG 0.473000 3 190 0 0 1 0 0 DDX18 8886 broad.mit.edu 37 2 118583110 118583110 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr2:118583110G>A ENST00000263239.2 + 10 1584 c.1456G>A c.(1456-1458)Gcg>Acg p.A486T NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 486 Helicase C-terminal. ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GGATGTGGCAGCGAGAGGACT 0.433000 3 131 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21562776 21562776 + Silent SNP C C A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr13:21562776C>A ENST00000382592.4 - 4 1548 c.1143G>T c.(1141-1143)ctG>ctT p.L381L LATS2_ENST00000542899.1_Silent_p.L381L NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 381 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CCGGCTTCTGCAGGGAGTCCC 0.701000 3 39 1 1 1 1 0 C10orf90 118611 broad.mit.edu 37 10 128193188 128193188 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr10:128193188G>A ENST00000284694.7 - 3 701 c.581C>T c.(580-582)gCc>gTc p.A194V C10orf90_ENST00000356858.3_Missense_Mutation_p.A147V|C10orf90_ENST00000392694.1_Missense_Mutation_p.A147V|C10orf90_ENST00000544758.1_Missense_Mutation_p.A291V|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.A194V NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 194 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) CTCTGTGCAGGCAAAAGATCT 0.612000 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 153 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168352394 168352394 + Missense_Mutation SNP C C G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr6:168352394C>G ENST00000366806.2 + 30 4481 c.4339C>G c.(4339-4341)Cag>Gag p.Q1447E MLLT4_ENST00000392108.3_Missense_Mutation_p.Q1447E|MLLT4_ENST00000392112.1_Missense_Mutation_p.Q1430E|MLLT4_ENST00000400822.3_Missense_Mutation_p.Q1446E|MLLT4_ENST00000344191.4_Missense_Mutation_p.Q1447E|MLLT4_ENST00000351017.4_Missense_Mutation_p.Q1454E|MLLT4_ENST00000447894.2_Missense_Mutation_p.Q1447E P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 1447 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GATGCGCACTCAGTCCTTAAA 0.577000 T MLL AL 17 263 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61542301 61542301 + Missense_Mutation SNP C C T TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr20:61542301C>T ENST00000266070.4 - 3 989 c.664G>A c.(664-666)Gat>Aat p.D222N DIDO1_ENST00000266071.5_Missense_Mutation_p.D222N|DIDO1_ENST00000395343.1_Missense_Mutation_p.D222N|DIDO1_ENST00000395335.2_Missense_Mutation_p.D222N|DIDO1_ENST00000370366.1_Missense_Mutation_p.D222N|DIDO1_ENST00000370368.1_Missense_Mutation_p.D222N|DIDO1_ENST00000370371.4_Missense_Mutation_p.D222N|DIDO1_ENST00000354665.4_Missense_Mutation_p.D222N|DIDO1_ENST00000395340.1_Missense_Mutation_p.D222N NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 222 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ACCCCCTGATCGTTCTCGGGC 0.622000 4 72 0 0 1 0 0 RBBP4 5928 broad.mit.edu 37 1 33123032 33123032 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr1:33123032G>A ENST00000373493.5 + 3 328 c.169G>A c.(169-171)Gaa>Aaa p.E57K RBBP4_ENST00000373485.1_Missense_Mutation_p.E57K|RBBP4_ENST00000414241.3_Missense_Mutation_p.E56K|RBBP4_ENST00000544435.1_Intron|RBBP4_ENST00000524393.1_Intron|RBBP4_ENST00000458695.2_Missense_Mutation_p.E22K NM_001135255.1|NM_005610.2 NP_001128727.1|NP_005601.1 Q09028 RBBP4_HUMAN retinoblastoma binding protein 4 57 cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex histone binding|histone deacetylase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) TTACAGACCAGAAGGGAAAGA 0.413000 6 107 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C C G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chrX:37027156C>G ENST00000358047.3 + 1 725 c.673C>G c.(673-675)Cag>Gag p.Q225E NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 225 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TCTCCGCCCACAGCCTCCCAA 0.647000 5 135 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957624 12957624 + Missense_Mutation SNP C C G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr8:12957624C>G ENST00000276297.4 - 9 2631 c.2222G>C c.(2221-2223)aGc>aCc p.S741T DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 741 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCTGCTGCTGCTGGTCTGCGT 0.627000 3 98 0 0 1 0 0 DYRK1B 9149 broad.mit.edu 37 19 40318234 40318234 + Silent SNP G G A rs78838108 byFrequency TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr19:40318234G>A ENST00000593685.1 - 7 1338 c.870C>T c.(868-870)taC>taT p.Y290Y DYRK1B_ENST00000430012.2_Silent_p.Y290Y|DYRK1B_ENST00000323039.5_Silent_p.Y290Y|DYRK1B_ENST00000597639.1_Silent_p.Y290Y|DYRK1B_ENST00000348817.3_Silent_p.Y290Y Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 290 Protein kinase. positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) TGGCCAGGTCGTAGGGTGTGC 0.597000 3 116 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 5 63 0 0 1 0 0 ZBTB3 79842 broad.mit.edu 37 11 62520401 62520401 + Silent SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr11:62520401G>A ENST00000394807.3 - 2 1011 c.886C>T c.(886-888)Ctg>Ttg p.L296L NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 296 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 AGAGATGGCAGTGGCTCCAAT 0.542000 3 88 0 0 1 0 0 IRF4 3662 broad.mit.edu 37 6 407546 407546 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr6:407546G>A ENST00000380956.4 + 9 1430 c.1304G>A c.(1303-1305)aGc>aAc p.S435N NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 435 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) GAACACATCAGCAATCCAGAA 0.353000 T IGH@ MM 3 67 0 0 1 0 0 SYTL4 94121 broad.mit.edu 37 X 99942164 99942164 + Missense_Mutation SNP A A G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chrX:99942164A>G ENST00000455616.1 - 12 1430 c.1084T>C c.(1084-1086)Ttt>Ctt p.F362L SYTL4_ENST00000276141.6_Missense_Mutation_p.F362L|SYTL4_ENST00000372989.1_Missense_Mutation_p.F362L|SYTL4_ENST00000454200.2_Missense_Mutation_p.F364L|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000263033.5_Missense_Mutation_p.F362L Q96C24 SYTL4_HUMAN synaptotagmin-like 4 362 C2 1. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTCAGGGAAAAGGCAATCCTG 0.502000 3 114 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55659057 55659057 + Silent SNP T T C TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr11:55659057T>C ENST00000449290.2 + 7 1400 c.1308T>C c.(1306-1308)aaT>aaC p.N436N TRIM51_ENST00000244891.3_Silent_p.N293N NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 436 B30.2/SPRY. intracellular zinc ion binding CCATCCCCAATTGCTCCTTCT 0.453000 12 198 0 0 1 0 0 GPAM 57678 broad.mit.edu 37 10 113920471 113920471 + Silent SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr10:113920471G>A ENST00000348367.4 - 16 1847 c.1650C>T c.(1648-1650)agC>agT p.S550S GPAM_ENST00000423155.1_Silent_p.S550S|GPAM_ENST00000369425.1_Silent_p.S550S Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 550 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) CATCGTTCCTGCTAGTGTGGG 0.458000 38 51 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65871028 65871028 + Missense_Mutation SNP G G C TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr17:65871028G>C ENST00000321892.4 + 4 1817 c.1756G>C c.(1756-1758)Gac>Cac p.D586H BPTF_ENST00000335221.5_Missense_Mutation_p.D586H|BPTF_ENST00000306378.6_Missense_Mutation_p.D586H|BPTF_ENST00000424123.3_Missense_Mutation_p.D447H Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 586 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GACTGAGAATGACTCTAAAGA 0.373000 4 48 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44815233 44815233 + Missense_Mutation SNP T T C TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr20:44815233T>C ENST00000372262.3 - 9 2057 c.1657A>G c.(1657-1659)Atc>Gtc p.I553V CDH22_ENST00000537909.1_Missense_Mutation_p.I553V NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 553 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) TCACCTTGGATGTCAAGCAGA 0.592000 5 132 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19677526 19677526 + Missense_Mutation SNP G G T TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr20:19677526G>T ENST00000328041.6 + 14 1774 c.1577G>T c.(1576-1578)tGc>tTc p.C526F NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 526 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GTGCCTGACTGCATGGCCAGC 0.597000 5 126 5.9392e-07 6.05342e-07 1 1 0 SCN5A 6331 broad.mit.edu 37 3 38591931 38591931 + Missense_Mutation SNP C C G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr3:38591931C>G ENST00000413689.1 - 28 6125 c.5932G>C c.(5932-5934)Gac>Cac p.D1978H SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1978H NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1978 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GTGACACTGTCATAGGAGGGT 0.602000 3 74 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169494626 169494626 + Missense_Mutation SNP T T A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr5:169494626T>A ENST00000256935.8 + 45 4660 c.4580T>A c.(4579-4581)cTc>cAc p.L1527H DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.L588H|DOCK2_ENST00000520908.1_Missense_Mutation_p.L1019H NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1527 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding p.L1527H(1) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCAACCCACTCTCCATGCTC 0.522000 4 127 0 0 1 0 0 MT-CO2 4513 broad.mit.edu 37 MT 8020 8020 + Silent SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chrM:8020G>A ENST00000361739.1 + 1 435 c.435G>A c.(433-435)ccG>ccA p.P145P mitochondrially encoded cytochrome c oxidase II endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1) 19 GTAGTACTCCCGATTGAAGCC 0.473000 5 0 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 101017574 101017574 + Missense_Mutation SNP C C G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr9:101017574C>G ENST00000375066.5 - 1 341 c.250G>C c.(250-252)Gct>Cct p.A84P TBC1D2_ENST00000375064.1_Missense_Mutation_p.A84P|TBC1D2_ENST00000342112.5_5'UTR NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 84 Interaction with CADH1.|PH. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) GCATCCTGAGCGGTCCGCGAG 0.542000 7 97 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7640590 7640590 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr12:7640590G>A ENST00000359156.4 - 7 1716 c.1514C>T c.(1513-1515)tCg>tTg p.S505L CD163_ENST00000432237.2_Missense_Mutation_p.S505L|CD163_ENST00000396620.3_Missense_Mutation_p.S505L|CD163_ENST00000541972.1_Missense_Mutation_p.S493L NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 505 SRCR 5. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.S505*(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AGAGAAGTCCGAATCACAGAT 0.537000 3 80 0 0 1 0 0 FLNA 0 broad.mit.edu 37 X 153599581 153599581 + Silent SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chrX:153599581G>A ENST00000422373.1 - 2 281 c.33C>T c.(31-33)agC>agT p.S11S FLNA_ENST00000369850.3_Silent_p.S11S|FLNA_ENST00000344736.4_Silent_p.S11S|FLNA_ENST00000360319.4_Silent_p.S11S NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 11 Actin-binding. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGCCTGCTGCGCTCTGGCCCG 0.701000 4 2 0 0 1 0 0 ITGAL 0 broad.mit.edu 37 16 30507512 30507512 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr16:30507512G>A ENST00000356798.6 + 14 1778 c.1598G>A c.(1597-1599)gGc>gAc p.G533D ITGAL_ENST00000358164.5_Missense_Mutation_p.G450D|ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000433423.2_Intron NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 533 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GACATCAACGGCGATGGGCTG 0.617000 6 243 0 0 1 0 0 LIPT1 51601 broad.mit.edu 37 2 99778836 99778836 + Missense_Mutation SNP C C G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr2:99778836C>G ENST00000393477.3 + 4 768 c.416C>G c.(415-417)gCt>gGt p.A139G MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Missense_Mutation_p.A139G|LIPT1_ENST00000393473.2_Missense_Mutation_p.A139G|LIPT1_ENST00000393474.3_Missense_Mutation_p.A139G|LIPT1_ENST00000340066.1_Missense_Mutation_p.A139G NM_145197.2 NP_660198.1 Q9Y234 LIPT_HUMAN lipoyltransferase 1 139 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity large_intestine(6)|lung(1) 7 Lipoic Acid(DB00166) GCTCTGAATGCTGTCCAACCC 0.383000 5 76 0 0 1 0 0 TMEM225 338661 broad.mit.edu 37 11 123753862 123753862 + Missense_Mutation SNP C C T TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr11:123753862C>T ENST00000375026.2 - 4 877 c.661G>A c.(661-663)Gta>Ata p.V221I NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 221 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 GCCCAGGTTACGTGACGTGTT 0.423000 35 63 0 0 1 0 0 DPP7 29952 broad.mit.edu 37 9 140006389 140006389 + Silent SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr9:140006389G>A ENST00000371579.2 - 10 1147 c.1143C>T c.(1141-1143)taC>taT p.Y381Y NM_013379.2 NP_037511.2 Q9UHL4 DPP2_HUMAN dipeptidyl-peptidase 7 381 cytoplasmic membrane-bounded vesicle|extracellular region|lysosome aminopeptidase activity|protein binding|serine-type peptidase activity endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633) TGTCCAGGCAGTACCGCTGGC 0.657000 3 78 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35870639 35870639 + Missense_Mutation SNP A A G TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr1:35870639A>G ENST00000314607.6 + 24 3624 c.3544A>G c.(3544-3546)Ata>Gta p.I1182V ZMYM4_ENST00000373297.2_Missense_Mutation_p.I1093V NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 1182 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GAAGAAGTCTATAGTGGCTGT 0.413000 7 112 0 0 1 0 0 UBASH3B 84959 broad.mit.edu 37 11 122659906 122659906 + Silent SNP C C T TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr11:122659906C>T ENST00000284273.5 + 6 1245 c.870C>T c.(868-870)agC>agT p.S290S NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B 290 SH3. cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) AGCAGACCAGCACCAGCGAGG 0.532000 6 437 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 31 45 0 0 1 0 0 GPR78 27201 broad.mit.edu 37 4 8588779 8588779 + Splice_Site SNP A A T TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr4:8588779A>T ENST00000382487.4 + 3 1199 c.e3-1 GPR78_ENST00000509216.1_Splice_Site NM_080819.4 NP_543009.2 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 CTTCCCCAACAGGCTGGCGGA 0.627000 34 63 0 0 1 0 0 TMEM255B 348013 broad.mit.edu 37 13 114469169 114469169 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr13:114469169G>A ENST00000375353.3 + 2 155 c.128G>A c.(127-129)gGg>gAg p.G43E NM_182614.2 NP_872420.1 transmembrane protein 255B GTCACCGTCGGGCTGGCTGCC 0.652000 68 85 0 0 1 0 0 WDR7 23335 broad.mit.edu 37 18 54362346 54362346 + Missense_Mutation SNP G G A TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr18:54362346G>A ENST00000254442.3 + 11 1485 c.1274G>A c.(1273-1275)cGt>cAt p.R425H WDR7_ENST00000357574.3_Missense_Mutation_p.R425H|WDR7_ENST00000589935.1_Intron NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 425 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) GTTTGTGGTCGTGAAGATGGA 0.448000 3 104 0 0 1 0 0 C1QA 712 broad.mit.edu 37 1 22965567 22965567 + Silent SNP G G C TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr1:22965567G>C ENST00000374642.3 + 3 609 c.405G>C c.(403-405)acG>acC p.T135T C1QA_ENST00000402322.1_Silent_p.T135T NM_015991.2 NP_057075.1 P02745 C1QA_HUMAN complement component 1, q subcomponent, A chain 135 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex autonomic_ganglia(1)|liver(1)|lung(3)|skin(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCTTCGACACGGTCATCACCA 0.602000 3 67 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195392917 195392917 + RNA DEL T T - TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr3:195392917delT ENST00000445430.1 + 0 647 CTTCTTGCCCTTTTTTTTTCT 0.418 2 4 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 145000951 145000953 + Splice_Site DEL CCT CCT - TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr8:145000951_145000953delCCT ENST00000322810.4 - 30 4623_4625 c.4455_splice c.e30+1 p.G1485_splice PLEC_ENST00000356346.3_Splice_Site_p.G1334_splice|PLEC_ENST00000436759.2_Splice_Site_p.G1375_splice|PLEC_ENST00000354589.3_Splice_Site_p.G1348_splice|PLEC_ENST00000398774.2_Splice_Site_p.G1316_splice|PLEC_ENST00000527096.1_Splice_Site_p.G1371_splice|PLEC_ENST00000357649.2_Splice_Site_p.G1352_splice|PLEC_ENST00000345136.3_Splice_Site_p.G1348_splice|PLEC_ENST00000354958.2_Splice_Site_p.G1326_splice NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1485 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACGGGCTGTACCTCCTCCTCCTC 0.621 8 444 --- --- --- --- LATS2 26524 broad.mit.edu 37 13 21562482 21562483 + In_Frame_Ins INS - - GGGGCG rs56252009 TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr13:21562482_21562483insGGGGCG ENST00000382592.4 - 4 1841_1842 c.1436_1437insCGCCCC c.(1435-1437)cgc>cCGCCCCgc p.478_479insPP LATS2_ENST00000542899.1_In_Frame_Ins_p.478_479insPP NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 478 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.P473_A480delPAPAPAPA(2)|p.P479_A480insGR(1) breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CCTCCGCAgccggggcgggggc 0.787 4 4 --- --- --- --- CBX3P2 0 broad.mit.edu 37 18 2652677 2652678 + RNA DEL AC AC - TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr18:2652677_2652678delAC ENST00000579647.1 - 0 919_920 NR_033754.2 CCTAGGTTTTACACACACACAC 0.342 2 4 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 38948159 38948160 + Frame_Shift_Del DEL TG TG - TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr19:38948159_38948160delTG ENST00000355481.4 + 17 1945_1946 c.1814_1815delTG c.(1813-1815)cfs p.L605fs RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 605 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTATGCTCCCTGTGTGTGTGTA 0.530 7 420 --- --- --- --- ZC3H4 23211 broad.mit.edu 37 19 47572401 47572403 + In_Frame_Del DEL CTC CTC - TCGA-EL-A3T3-01A-11D-A22D-08 TCGA-EL-A3T3-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29bd75e4-6e49-4190-ba27-42fbb7224820 6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6 g.chr19:47572401_47572403delCTC ENST00000253048.5 - 14 2381_2383 c.2344_2346delGAG c.(2344-2346)del p.E782del ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 782 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TCCTCGCTCTCTCCTCCTCCTCC 0.700 8 253 --- --- --- ---