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 FUZ 80199 broad.mit.edu 37 19 50315885 50315885 + Missense_Mutation SNP T T C TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr19:50315885T>C ENST00000313777.4 - 2 383 c.220A>G c.(220-222)Agc>Ggc p.S74G FUZ_ENST00000533418.1_Missense_Mutation_p.S24G|FUZ_ENST00000445575.2_Missense_Mutation_p.S74G|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000528094.1_Intron|FUZ_ENST00000526575.1_Missense_Mutation_p.S74G NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 74 cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCATGGAAGCTTTTCCACACC 0.572000 3 62 0 0 0.009096 0 0 ESRP1 54845 broad.mit.edu 37 8 95683762 95683762 + Missense_Mutation SNP C C T TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr8:95683762C>T ENST00000433389.2 + 11 1505 c.1315C>T c.(1315-1317)Ccc>Tcc p.P439S ESRP1_ENST00000358397.5_Missense_Mutation_p.P439S|ESRP1_ENST00000423620.2_Missense_Mutation_p.P439S|ESRP1_ENST00000454170.2_Missense_Mutation_p.P439S NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 439 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 GCAATTTGTGCCCCCTACAAA 0.493000 5 64 0 0 0.000602 0 0 CATSPERB 79820 broad.mit.edu 37 14 92126274 92126274 + Missense_Mutation SNP G G C TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr14:92126274G>C ENST00000256343.3 - 15 1495 c.1339C>G c.(1339-1341)Cat>Gat p.H447D NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 447 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) ATATCATCATGAAAGTTAGCT 0.353000 3 70 0 0 0.004672 0 0 NR4A2 0 broad.mit.edu 37 2 157182823 157182823 + Missense_Mutation SNP C C T TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr2:157182823C>T ENST00000339562.4 - 7 1741 c.1379G>A c.(1378-1380)gGt>gAt p.G460D NR4A2_ENST00000429376.1_Splice_Site|NR4A2_ENST00000426264.1_Missense_Mutation_p.G397D|NR4A2_ENST00000409108.2_Splice_Site|NR4A2_ENST00000539077.1_Missense_Mutation_p.G471D|NR4A2_ENST00000409572.1_Missense_Mutation_p.G460D NM_006186.3 NP_006177.1 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 460 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 GATGAGTTTACCCTCCACTGG 0.428000 23 26 0 0 0.004656 0 0 DAPK1 1612 broad.mit.edu 37 9 90296352 90296352 + Nonsense_Mutation SNP C C T TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr9:90296352C>T ENST00000469640.2 + 20 2410 c.2035C>T c.(2035-2037)Cga>Tga p.R679* DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000408954.3_Nonsense_Mutation_p.R679*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R679* P53355 DAPK1_HUMAN death-associated protein kinase 1 679 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 CCAGCAGCTCCGACCCACACA 0.502000 Chronic Lymphocytic Leukemia, Familial Clustering of 63 86 0 0 0.014410 0 0 DMXL2 23312 broad.mit.edu 37 15 51837864 51837864 + Missense_Mutation SNP C C A TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr15:51837864C>A ENST00000251076.5 - 8 1133 c.846G>T c.(844-846)caG>caT p.Q282H DMXL2_ENST00000449909.3_Missense_Mutation_p.Q282H|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q282H NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 282 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TCTCACAAATCTGCTCACCCA 0.433000 63 48 1.08241e-25 8.48834e-25 0.014410 1 0 PKDREJ 10343 broad.mit.edu 37 22 46653016 46653016 + Nonsense_Mutation SNP A A C TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr22:46653016A>C ENST00000253255.5 - 1 6203 c.6204T>G c.(6202-6204)taT>taG p.Y2068* NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 2068 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AGAATCTGGAATACCTGAGGG 0.463000 12 16 0 0 0.013537 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 59 81 0 0 0.014410 0 0 IGHG3 0 broad.mit.edu 37 14 106235608 106235608 + RNA SNP G G A TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr14:106235608G>A ENST00000390551.2 - 0 1098 GCTCTTCTGCGTGAAGCGGTT 0.622000 29 80 0 0 0.007291 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48596401 48596401 + Missense_Mutation SNP A A T TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr17:48596401A>T ENST00000323776.5 + 6 1010 c.848A>T c.(847-849)gAg>gTg p.E283V MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E246V NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 246 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) CGGATCCAGGAGGAGCGGGAG 0.602000 26 38 0 0 0.008361 0 0 ANO2 57101 broad.mit.edu 37 12 5916525 5916525 + Missense_Mutation SNP G G C TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr12:5916525G>C ENST00000327087.8 - 8 961 c.890C>G c.(889-891)tCt>tGt p.S297C ANO2_ENST00000546188.1_Missense_Mutation_p.S298C|ANO2_ENST00000356134.5_Missense_Mutation_p.S298C Q9NQ90 ANO2_HUMAN anoctamin 2 302 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TGCGATCAGAGAGTTAATACC 0.403000 4 3 0 0 0.001168 0 0 PENK 5179 broad.mit.edu 37 8 57353902 57353902 + Missense_Mutation SNP C C T TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr8:57353902C>T ENST00000314922.3 - 2 809 c.733G>A c.(733-735)Gaa>Aaa p.E245K PENK_ENST00000451791.2_Missense_Mutation_p.E245K NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 245 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) TCGCCTTCTTCGTCGGAGGGC 0.498000 23 86 0 0 0.002780 0 0 TBC1D2 55357 broad.mit.edu 37 9 100973003 100973003 + Silent SNP G G A TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr9:100973003G>A ENST00000375066.5 - 8 1699 c.1608C>T c.(1606-1608)gtC>gtT p.V536V TBC1D2_ENST00000375064.1_Silent_p.V536V|TBC1D2_ENST00000342112.5_Silent_p.V318V|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375063.1_Silent_p.V76V NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 536 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) GTGCCTCCTGGACAAGCTGCC 0.637000 4 3 0 0 0.009096 0 0 CST6 1474 broad.mit.edu 37 11 65780827 65780827 + Nonsense_Mutation SNP C C T TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr11:65780827C>T ENST00000312134.2 + 3 610 c.406C>T c.(406-408)Cag>Tag p.Q136* NM_001323.3 NP_001314.1 Q15828 CYTM_HUMAN cystatin E/M 136 anatomical structure morphogenesis extracellular region cysteine-type endopeptidase inhibitor activity large_intestine(1)|lung(1)|ovary(1) 3 GGTTCCCTGGCAGAACTCCTC 0.582000 8 85 0 0 0.010729 0 0 LILRB4 0 broad.mit.edu 37 19 55179342 55179342 + Missense_Mutation SNP C C T TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr19:55179342C>T ENST00000391736.1 + 14 1534 c.1219C>T c.(1219-1221)Ccc>Tcc p.P407S LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 407 integral to membrane|plasma membrane antigen binding|receptor activity p.P407S(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) ATCTGAAGCCCCCCAGGATGT 0.647000 4 68 0 0 0.009096 0 0 FUZ 80199 broad.mit.edu 37 19 50315885 50315885 + Missense_Mutation SNP T T C TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr19:50315885T>C ENST00000313777.4 - 2 383 c.220A>G c.(220-222)Agc>Ggc p.S74G FUZ_ENST00000533418.1_Missense_Mutation_p.S24G|FUZ_ENST00000528094.1_Intron|FUZ_ENST00000445575.2_Missense_Mutation_p.S74G|FUZ_ENST00000526575.1_Missense_Mutation_p.S74G|FUZ_ENST00000534008.1_5'UTR NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 74 cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCATGGAAGCTTTTCCACACC 0.572000 3 62 0 0 0.009096 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 59 0 0 0.000602 0 0 ESRP1 54845 broad.mit.edu 37 8 95683762 95683762 + Missense_Mutation SNP C C T TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr8:95683762C>T ENST00000433389.2 + 11 1505 c.1315C>T c.(1315-1317)Ccc>Tcc p.P439S ESRP1_ENST00000358397.5_Missense_Mutation_p.P439S|ESRP1_ENST00000454170.2_Missense_Mutation_p.P439S|ESRP1_ENST00000423620.2_Missense_Mutation_p.P439S NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 439 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 GCAATTTGTGCCCCCTACAAA 0.493000 5 64 0 0 0.000602 0 0 CATSPERB 79820 broad.mit.edu 37 14 92126274 92126274 + Missense_Mutation SNP G G C TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr14:92126274G>C ENST00000256343.3 - 15 1495 c.1339C>G c.(1339-1341)Cat>Gat p.H447D NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 447 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) ATATCATCATGAAAGTTAGCT 0.353000 3 70 0 0 0.004672 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 3 79 0 0 0.000602 0 0 NR4A2 0 broad.mit.edu 37 2 157182823 157182823 + Missense_Mutation SNP C C T TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr2:157182823C>T ENST00000339562.4 - 7 1741 c.1379G>A c.(1378-1380)gGt>gAt p.G460D NR4A2_ENST00000409572.1_Missense_Mutation_p.G460D|NR4A2_ENST00000426264.1_Missense_Mutation_p.G397D|NR4A2_ENST00000429376.1_Splice_Site|NR4A2_ENST00000409108.2_Splice_Site|NR4A2_ENST00000539077.1_Missense_Mutation_p.G471D NM_006186.3 NP_006177.1 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 460 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 GATGAGTTTACCCTCCACTGG 0.428000 23 26 0 0 0.004656 0 0 BMS1 9790 broad.mit.edu 37 10 43318566 43318566 + Splice_Site SNP G G A TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr10:43318566G>A ENST00000374518.4 + 20 3196 c.3132_splice c.e20-1 p.G1045_splice NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1045 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 ATACCTGTAGGGAATGTTTAA 0.388000 4 86 0 0 0.000602 0 0 DAPK1 1612 broad.mit.edu 37 9 90296352 90296352 + Nonsense_Mutation SNP C C T TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr9:90296352C>T ENST00000469640.2 + 20 2410 c.2035C>T c.(2035-2037)Cga>Tga p.R679* DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R679*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000408954.3_Nonsense_Mutation_p.R679*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R679* P53355 DAPK1_HUMAN death-associated protein kinase 1 679 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 CCAGCAGCTCCGACCCACACA 0.502000 Chronic Lymphocytic Leukemia, Familial Clustering of 63 86 0 0 0.014410 0 0 DMXL2 23312 broad.mit.edu 37 15 51837864 51837864 + Missense_Mutation SNP C C A TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr15:51837864C>A ENST00000251076.5 - 8 1133 c.846G>T c.(844-846)caG>caT p.Q282H DMXL2_ENST00000449909.3_Missense_Mutation_p.Q282H|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q282H NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 282 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TCTCACAAATCTGCTCACCCA 0.433000 63 48 1.08241e-25 8.85605e-25 0.014410 1 0 PKDREJ 10343 broad.mit.edu 37 22 46653016 46653016 + Nonsense_Mutation SNP A A C TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr22:46653016A>C ENST00000253255.5 - 1 6203 c.6204T>G c.(6202-6204)taT>taG p.Y2068* NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 2068 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AGAATCTGGAATACCTGAGGG 0.463000 12 16 0 0 0.013537 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 59 81 0 0 0.014410 0 0 IGHG3 0 broad.mit.edu 37 14 106235608 106235608 + RNA SNP G G A TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr14:106235608G>A ENST00000390551.2 - 0 1098 GCTCTTCTGCGTGAAGCGGTT 0.622000 29 80 0 0 0.007291 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48596401 48596401 + Missense_Mutation SNP A A T TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr17:48596401A>T ENST00000323776.5 + 6 1010 c.848A>T c.(847-849)gAg>gTg p.E283V MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E246V NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 246 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) CGGATCCAGGAGGAGCGGGAG 0.602000 26 38 0 0 0.008361 0 0 PENK 5179 broad.mit.edu 37 8 57353902 57353902 + Missense_Mutation SNP C C T TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr8:57353902C>T ENST00000314922.3 - 2 809 c.733G>A c.(733-735)Gaa>Aaa p.E245K PENK_ENST00000451791.2_Missense_Mutation_p.E245K NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 245 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) TCGCCTTCTTCGTCGGAGGGC 0.498000 23 86 0 0 0.002780 0 0 TRIM51HP 0 broad.mit.edu 37 11 55065601 55065601 + RNA SNP C C G rs4100282 TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr11:55065601C>G ENST00000526016.1 - 0 107 NR_038174.2 CACTGAGCAACAACTGCCATG 0.488000 3 32 0 0 0.004672 0 0 CST6 1474 broad.mit.edu 37 11 65780827 65780827 + Nonsense_Mutation SNP C C T TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr11:65780827C>T ENST00000312134.2 + 3 610 c.406C>T c.(406-408)Cag>Tag p.Q136* NM_001323.3 NP_001314.1 Q15828 CYTM_HUMAN cystatin E/M 136 anatomical structure morphogenesis extracellular region cysteine-type endopeptidase inhibitor activity large_intestine(1)|lung(1)|ovary(1) 3 GGTTCCCTGGCAGAACTCCTC 0.582000 8 85 0 0 0.010729 0 0 ARAP3 64411 broad.mit.edu 37 5 141041612 141041612 + Frame_Shift_Del DEL G G - TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr5:141041612delG ENST00000239440.4 - 20 3076 c.3011delC c.(3010-3012)gtfs p.A1004fs ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000513878.1_Frame_Shift_Del_p.A666fs|ARAP3_ENST00000512390.1_5'UTR NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 1004 Rho-GAP. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding p.A1004V(1) NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 AGGAATACCAGCAGCCTCCCT 0.577 38 30 --- --- --- --- RP11-1252I4.2 0 broad.mit.edu 37 5 177398373 177398396 + RNA DEL AGGACGAAGAGCTGGAGAGCGCCA AGGACGAAGAGCTGGAGAGCGCCA - rs70994948 TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA ENST00000511650.1 + 0 145 GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA 0.683 3 3 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708697 180708698 + RNA INS - - A rs1815381 TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr5:180708697_180708698insA ENST00000412295.2 + 0 238 ggggcggtaggcgggggctgga 0.718 2 4 --- --- --- --- TTLL11 158135 broad.mit.edu 37 9 124855330 124855331 + In_Frame_Ins INS - - TGGCCT rs3833704 TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd c000393d-a685-4e79-94bc-87176343d388 g.chr9:124855330_124855331insTGGCCT ENST00000321582.5 - 1 554_555 c.367_368insAGGCCA c.(367-369)agc>AGGCCAagc p.122_123insRP TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_In_Frame_Ins_p.122_123insRP NM_001139442.1 NP_001132914.1 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 122 protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 cgtctccgctgtggcctcggcc 0.762 3 5 --- --- --- --- ARAP3 64411 broad.mit.edu 37 5 141041612 141041612 + Frame_Shift_Del DEL G G - TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr5:141041612delG ENST00000239440.4 - 20 3076 c.3011delC c.(3010-3012)gtfs p.A1004fs ARAP3_ENST00000513878.1_Frame_Shift_Del_p.A666fs|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Intron NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 1004 Rho-GAP. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding p.A1004V(1) NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 AGGAATACCAGCAGCCTCCCT 0.577 38 30 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100369721 100369721 + RNA DEL T T - TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr7:100369721delT ENST00000542585.1 + 0 5573 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ctctaaattcttttttttttt 0.532 3 5 --- --- --- --- FNBP4 23360 broad.mit.edu 37 11 47788664 47788669 + In_Frame_Del DEL GGTGGT GGTGGT - rs59413596 TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr11:47788664_47788669delGGTGGT ENST00000263773.5 - 1 184_189 c.172_177delACCACC c.(172-177)del p.TT58del FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 58 p.T58_T59delTT(3) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 CAGTCACCGCGGTGGTGGTGGTCGTC 0.748 7 8 --- --- --- --- SCAF1 58506 broad.mit.edu 37 19 50155916 50155918 + In_Frame_Del DEL CCT CCT - TCGA-H2-A2K9-01A-11D-A17V-08 TCGA-H2-A2K9-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40507884-f752-4b6f-897d-3596bbba94cd 54f9a768-3d42-42b9-a0a6-be2e01e497d6 g.chr19:50155916_50155918delCCT ENST00000360565.3 + 7 2394_2396 c.2270_2272delCCT c.(2269-2274)gcc>g p.AS757del NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 757 Ser-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TCGGGGGCCGCCTCCTCCTCCTC 0.690 2 4 --- --- --- ---