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 DRD5 0 broad.mit.edu 37 4 9783838 9783838 + Missense_Mutation SNP G G C rs2227840 by1000genomes TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr4:9783838G>C ENST00000304374.2 + 1 581 c.185G>C c.(184-186)tGc>tCc p.C62S NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 62 C -> S (in dbSNP:rs2227840). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GTGCTGGTGTGCGCAGCCATC 0.662000 4 50 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97866233 97866233 + Missense_Mutation SNP A A G TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr2:97866233A>G ENST00000420699.2 + 46 3072 c.2828A>G c.(2827-2829)gAa>gGa p.E943G ANKRD36_ENST00000461153.2_Missense_Mutation_p.E943G NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 943 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 ATAACCAGAGAAAAAAAGGAT 0.333000 7 10 0 0 1 0 0 TLE3 7090 broad.mit.edu 37 15 70366914 70366914 + Silent SNP G G A TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr15:70366914G>A ENST00000558939.1 - 6 1707 c.330C>T c.(328-330)cgC>cgT p.R110R TLE3_ENST00000558379.1_Silent_p.R110R|TLE3_ENST00000451782.2_Silent_p.R110R|TLE3_ENST00000560939.1_Silent_p.R116R|TLE3_ENST00000559929.1_Silent_p.R110R|TLE3_ENST00000559048.1_Silent_p.R116R|TLE3_ENST00000557997.1_Silent_p.R110R|TLE3_ENST00000317509.8_Silent_p.R110R|TLE3_ENST00000442299.2_Silent_p.R110R|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000558201.1_Silent_p.R116R|TLE3_ENST00000560589.1_Silent_p.R54R|TLE3_ENST00000557907.1_Silent_p.R110R|TLE3_ENST00000440567.3_Silent_p.R103R|TLE3_ENST00000539550.1_Silent_p.R44R Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 110 Gln-rich. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CCTGCTTGGCGCGCTCCACTG 0.587000 15 9 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216011417 216011417 + Missense_Mutation SNP A A G TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr1:216011417A>G ENST00000366943.2 - 47 9673 c.9287T>C c.(9286-9288)gTg>gCg p.V3096A USH2A_ENST00000307340.3_Missense_Mutation_p.V3096A O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3096 Fibronectin type-III 17. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATTGCTTTTCACGCAGGCATA 0.368000 HNSCC(13;0.011) 4 140 0 0 1 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144060770 144060770 + Silent SNP T T C rs141931104 by1000genomes TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr7:144060770T>C ENST00000056217.5 + 2 1182 c.1008T>C c.(1006-1008)aaT>aaC p.N336N NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 336 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity p.N336N(5) breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) CAGAAGAGAATAGGGCGGACT 0.512000 5 98 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 3 23 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56582201 56582201 + Missense_Mutation SNP C C T TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr17:56582201C>T ENST00000323456.5 - 12 1362 c.1238G>A c.(1237-1239)cGc>cAc p.R413H MTMR4_ENST00000579925.1_Missense_Mutation_p.R413H NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 413 Myotubularin phosphatase.|Substrate binding (By similarity). cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGCGGTGTGCGGTCCCAGCC 0.532000 4 132 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31391686 31391686 + Missense_Mutation SNP G G T TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr16:31391686G>T ENST00000268296.4 + 27 3281 c.3160G>T c.(3160-3162)Ggc>Tgc p.G1054C ITGAX_ENST00000562522.1_Missense_Mutation_p.G1054C NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 1054 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CCTCAGCTTTGGCTGGGTCCG 0.652000 3 36 1 1 1 1 0 CYP2D7P1 0 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr22:42538870A>C ENST00000358097.4 - 0 449 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 3 37 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 3 15 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91132473 91132473 + Missense_Mutation SNP T T C TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chrX:91132473T>C ENST00000373094.1 + 2 2079 c.1234T>C c.(1234-1236)Ttc>Ctc p.F412L PCDH11X_ENST00000373097.1_Missense_Mutation_p.F412L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.F412L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.F412L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.F412L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.F412L|PCDH11X_ENST00000504220.1_Missense_Mutation_p.F412L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.F412L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.F412L NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 412 Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 AAGGCCAGTATTCAGTAATCA 0.438000 8 193 0 0 1 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6083476 6083476 + Missense_Mutation SNP G G A TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr4:6083476G>A ENST00000409021.3 - 6 1410 c.961C>T c.(961-963)Cgc>Tgc p.R321C JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R156C|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R321C|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R156C|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R321C NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 321 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCTCGTGAGCGTTTCAGCTGT 0.542000 35 49 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 4 106 0.150653 0.154725 1 1 0 DRD5 0 broad.mit.edu 37 4 9783834 9783834 + Missense_Mutation SNP G G A rs113223975 by1000genomes TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr4:9783834G>A ENST00000304374.2 + 1 577 c.181G>A c.(181-183)Gtg>Atg p.V61M NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 61 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CAACGTGCTGGTGTGCGCAGC 0.672000 4 48 0 0 1 0 0 C15orf41 84529 broad.mit.edu 37 15 37002124 37002124 + Silent SNP C C T TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr15:37002124C>T ENST00000566621.1 + 10 928 c.678C>T c.(676-678)caC>caT p.H226H C15orf41_ENST00000569302.1_Silent_p.H232H|C15orf41_ENST00000437989.2_Silent_p.H226H|C15orf41_ENST00000567389.1_Silent_p.H128H|C15orf41_ENST00000562489.1_Silent_p.H50H|C15orf41_ENST00000562877.1_Silent_p.H128H|C15orf41_ENST00000338183.4_Silent_p.H128H|C15orf41_ENST00000565792.1_3'UTR NM_001130010.1 NP_001123482.1 Q9Y2V0 CO041_HUMAN chromosome 15 open reading frame 41 226 protein binding kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222) all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11) GTAGCCACCACGCCTACCTGC 0.393000 8 134 0 0 1 0 0 TMLHE 55217 broad.mit.edu 37 X 154774817 154774817 + Missense_Mutation SNP A A C TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chrX:154774817A>C ENST00000334398.3 - 2 266 c.121T>G c.(121-123)Tgg>Ggg p.W41G TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.W41G NM_018196.3 NP_060666.1 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 41 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) GTATGGTGCCAATGGACAGCT 0.463000 49 63 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 3 15 6.4e-05 7.3697e-05 1 1 0 MSLN 10232 broad.mit.edu 37 16 814961 814961 + Silent SNP G G A TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr16:814961G>A ENST00000566549.1 + 7 852 c.435G>A c.(433-435)acG>acA p.T145T MSLN_ENST00000382862.3_Silent_p.T145T|MSLN_ENST00000563941.1_Silent_p.T145T|MSLN_ENST00000545450.2_Silent_p.T145T Q13421 MSLN_HUMAN mesothelin 145 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) CCCGCATCACGAAGGCCAATG 0.701000 13 31 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20490475 20490475 + Silent SNP C C T TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr4:20490475C>T ENST00000504154.1 + 8 897 c.645C>T c.(643-645)tgC>tgT p.C215C SLIT2_ENST00000503837.1_Silent_p.C215C|SLIT2_ENST00000503823.1_Silent_p.C215C|SLIT2_ENST00000273739.5_Silent_p.C215C NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 215 LRRCT 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ATTGTGACTGCCACCTGGCCT 0.473000 89 154 0 0 1 0 0 MT-CO2 4513 broad.mit.edu 37 MT 8027 8027 + Missense_Mutation SNP G G A TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chrM:8027G>A ENST00000361739.1 + 1 442 c.442G>A c.(442-444)Gcc>Acc p.A148T mitochondrially encoded cytochrome c oxidase II endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1) 19 TCCCGATTGAAGCCCCCATTC 0.468000 2 0 0 0 1 0 0 SEMA3B 7869 broad.mit.edu 37 3 50311108 50311108 + RNA SNP A A G TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr3:50311108A>G ENST00000418948.1 + 0 1156 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GGGGTTGGGGAGGGGGGCAGC 0.701000 OREG0015583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 47 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 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 42 47 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38991659 38991659 + Silent SNP G G T TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr3:38991659G>T ENST00000302328.3 - 1 393 c.195C>A c.(193-195)ctC>ctA p.L65L SCN11A_ENST00000456224.3_Silent_p.L65L|SCN11A_ENST00000450244.1_Silent_p.L65L|SCN11A_ENST00000444237.2_Silent_p.L65L NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 65 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TGTCGCCATAGAGCTTGGGCA 0.532000 4 185 0.150653 0.154725 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 6 93 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247597549 247597549 + Silent SNP C C T TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr1:247597549C>T ENST00000366497.2 + 6 3252 c.2472C>T c.(2470-2472)caC>caT p.H824H NLRP3_ENST00000336119.3_Silent_p.H824H|NLRP3_ENST00000391828.3_Silent_p.H824H|NLRP3_ENST00000348069.2_Silent_p.H767H|NLRP3_ENST00000366496.2_Silent_p.H824H|NLRP3_ENST00000391827.2_Silent_p.H767H NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 881 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GACTGAAGCACCTGTTGTGCA 0.587000 4 117 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546506 11546508 + In_Frame_Del DEL TTG TTG - TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr12:11546506_11546508delTTG ENST00000389362.4 - 3 539_541 c.504_506delCAA c.(502-507)aag>aa p.NK168del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTCGGGACTTGTTGTCTCCTT 0.596 8 764 --- --- --- --- CTD-2540L5.5 0 broad.mit.edu 37 14 71067484 71067504 + RNA DEL GGCAGGAGAGAGGCAGGGGGT GGCAGGAGAGAGGCAGGGGGT - TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr14:71067484_71067504delGGCAGGAGAGAGGCAGGGGGT ENST00000553982.1 - 0 294 gggcggggcgggcaggagagaggcagggggtggaggtgcgg 0.710 3 3 --- --- --- --- IGHJ6 0 broad.mit.edu 37 14 106329450 106329451 + RNA INS - - ACC rs74454466 by1000genomes TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr14:106329450_106329451insACC ENST00000390560.2 - 0 17_18 CAGACGTCCATGTAGTAGTAGT 0.540 9 89 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-KS-A4I1-01A-11D-A257-08 TCGA-KS-A4I1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aa5b5812-355d-4716-a55a-38071b50593c f758e38b-90f4-4aea-9c72-2b506baf6678 g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 7 37 --- --- --- ---