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 POU4F3 5459 broad.mit.edu 37 5 145719616 145719616 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr5:145719616G>A ENST00000230732.4 + 2 715 c.626G>A c.(625-627)gGc>gAc p.G209D CTC-359M8.1_ENST00000515598.1_RNA NM_002700.2 NP_002691.1 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 209 POU-specific. sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCGGACGTGGGCGCGGCTCTG 0.637000 6 73 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96140272 96140272 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr4:96140272G>A ENST00000453304.1 - 9 1841 c.1493C>T c.(1492-1494)aCg>aTg p.T498M UNC5C_ENST00000506749.1_Missense_Mutation_p.T517M NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 498 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) CAGCTTGGACGTAAACTCAGA 0.512000 4 180 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13737517 13737517 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr5:13737517G>A ENST00000265104.4 - 66 11403 c.11299C>T c.(11299-11301)Cgc>Tgc p.R3767C NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3767 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R3767C(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTTGTCAGGCGGTAAAGCAAG 0.428000 Kartagener syndrome 4 116 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132423069 132423069 + Silent SNP A A G TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr3:132423069A>G ENST00000326682.8 - 9 1573 c.1497T>C c.(1495-1497)aaT>aaC p.N499N NPHP3_ENST00000337331.5_Silent_p.N499N Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 499 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CATGGGCTGAATTAGAAGCCT 0.388000 3 172 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170058316 170058316 + Silent SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr2:170058316G>A ENST00000263816.3 - 44 8559 c.8274C>T c.(8272-8274)taC>taT p.Y2758Y NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2758 LDL-receptor class A 17. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AATCACAGCGGTAAGAGTATT 0.493000 3 130 0 0 1 0 0 PANX1 24145 broad.mit.edu 37 11 93912962 93912962 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr11:93912962G>A ENST00000227638.3 + 4 1125 c.740G>A c.(739-741)aGc>aAc p.S247N PANX1_ENST00000436171.2_Missense_Mutation_p.S247N NM_015368.3 NP_056183.2 Q96RD7 PANX1_HUMAN pannexin 1 247 positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTTGTGTGCAGCATCAAATCA 0.493000 3 118 0 0 1 0 0 TP53INP1 0 broad.mit.edu 37 8 95952260 95952260 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr8:95952260G>A ENST00000342697.4 - 3 708 c.301C>T c.(301-303)Ccc>Tcc p.P101S TP53INP1_ENST00000448464.2_Missense_Mutation_p.P101S|TP53INP1_ENST00000378776.4_Missense_Mutation_p.P101S|NDUFAF6_ENST00000396113.1_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 101 apoptosis PML body kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) AAACATGGGGGTGGGGTGATA 0.463000 3 78 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 84028118 84028118 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr11:84028118G>A ENST00000280241.8 - 1 70 c.71C>T c.(70-72)gCg>gTg p.A24V DLG2_ENST00000376104.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.A24V NM_001206769.1 NP_001193698.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CAGGGTGGGCGCACTCCTGAC 0.592000 9 380 0 0 1 0 0 CLCN5 1184 broad.mit.edu 37 X 49854982 49854982 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chrX:49854982G>A ENST00000376088.3 + 13 2595 c.1954G>A c.(1954-1956)Gca>Aca p.A652T CLCN5_ENST00000376108.3_Missense_Mutation_p.A582T|CLCN5_ENST00000376091.3_Missense_Mutation_p.A652T|CLCN5_ENST00000307367.2_Missense_Mutation_p.A582T NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 582 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) TAAGACCCTGGCAATGGATGT 0.478000 20 60 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 8 66 0 0 1 0 0 CCDC142 84865 broad.mit.edu 37 2 74709264 74709264 + Missense_Mutation SNP C C T rs145805017 TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr2:74709264C>T ENST00000393965.3 - 1 1097 c.701G>A c.(700-702)cGt>cAt p.R234H CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Missense_Mutation_p.R234H NM_032779.3 NP_116168.3 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 234 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 16 GCGGAGCACACGGGACGTGGG 0.662000 3 63 0 0 1 0 0 AKAP8L 26993 broad.mit.edu 37 19 15514819 15514819 + Splice_Site SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr19:15514819G>A ENST00000397410.4 - 3 186 c.e3+1 AKAP8L_ENST00000595136.1_Splice_Site|AKAP8L_ENST00000595465.1_Splice_Site NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 AATGACACTTGCCTCTATTTG 0.498000 4 60 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50683317 50683317 + Missense_Mutation SNP C C A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr6:50683317C>A ENST00000008391.3 + 2 756 c.528C>A c.(526-528)gaC>gaA p.D176E NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 176 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) CGGGAGCAGACGACTTGCAGG 0.597000 6 104 0.00829132 0.00847557 1 1 0 KHDRBS1 10657 broad.mit.edu 37 1 32498905 32498905 + Silent SNP C C A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr1:32498905C>A ENST00000327300.7 + 4 908 c.741C>A c.(739-741)gcC>gcA p.A247A KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Silent_p.A208A NM_006559.1 NP_006550.1 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal transduction associated 1 247 cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TGGCCCATGCCATGGAGGAAG 0.448000 3 65 1 1 1 1 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 53 0 0 1 0 0 FPR2 2358 broad.mit.edu 37 19 52272349 52272349 + Silent SNP C C T TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr19:52272349C>T ENST00000598776.1 + 2 1210 c.438C>T c.(436-438)atC>atT p.I146I FPR2_ENST00000598953.1_Silent_p.I146I|FPR2_ENST00000340023.6_Silent_p.I146I NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 146 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 TGAAGGTGATCGTCGGACCTT 0.478000 16 90 0 0 1 0 0 SGK196 0 broad.mit.edu 37 8 42977872 42977872 + Missense_Mutation SNP T T C TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr8:42977872T>C ENST00000331373.5 + 5 1160 c.905T>C c.(904-906)gTc>gCc p.V302A NM_001277971.1|NM_032237.3 NP_001264900.1|NP_115613.1 Q9H5K3 SG196_HUMAN 302 Protein kinase. integral to membrane ATP binding|protein kinase activity AGTGATATGGTCCGATTCCAT 0.478000 3 101 0 0 1 0 0 CD5 921 broad.mit.edu 37 11 60886790 60886790 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr11:60886790G>A ENST00000347785.3 + 5 714 c.548G>A c.(547-549)gGt>gAt p.G183D NM_014207.3 NP_055022.2 P06127 CD5_HUMAN CD5 molecule 183 SRCR 2. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) AGCCTGGGGGGTACCATCAGC 0.612000 5 108 0 0 1 0 0 ADRB1 153 broad.mit.edu 37 10 115804259 115804259 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr10:115804259G>A ENST00000369295.2 + 1 454 c.368G>A c.(367-369)cGc>cAc p.R123H NM_000684.2 NP_000675.1 P08588 ADRB1_HUMAN adrenoceptor beta 1 123 positive regulation of cAMP biosynthetic process integral to plasma membrane alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity large_intestine(4)|lung(1)|upper_aerodigestive_tract(1) 6 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0124)|all cancers(201;0.0298) Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246) GTGTGGGGCCGCTGGGAGTAC 0.652000 3 118 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 3 56 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16910932 16910932 + Missense_Mutation SNP T T C rs138963732 TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr19:16910932T>C ENST00000524140.2 + 17 4113 c.3695T>C c.(3694-3696)aTt>aCt p.I1232T NWD1_ENST00000552788.1_Missense_Mutation_p.I1232T|NWD1_ENST00000549814.1_Missense_Mutation_p.I1190T|NWD1_ENST00000379808.3_Missense_Mutation_p.I1232T|NWD1_ENST00000339803.6_Missense_Mutation_p.I1097T|NWD1_ENST00000523826.1_Missense_Mutation_p.I1026T NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1232 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TTCCCCAAAATTGGGGACAAA 0.507000 35 87 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 6 85 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100532612 100532612 + Splice_Site SNP T T C TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr4:100532612T>C ENST00000457717.1 + 15 2245 c.e15+2 MTTP_ENST00000265517.5_Splice_Site|MTTP_ENST00000511045.1_Splice_Site|RP11-766F14.1_ENST00000508578.1_RNA NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) GGTAGCCAGGTAACTCACTTC 0.398000 4 145 0 0 1 0 0 ADSS 159 broad.mit.edu 37 1 244582071 244582071 + Silent SNP C C T TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr1:244582071C>T ENST00000366535.3 - 9 1252 c.936G>A c.(934-936)gaG>gaA p.E312E NM_001126.3 NP_001117.2 P30520 PURA2_HUMAN adenylosuccinate synthase 312 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) CATTGTCTTGCTCTGTAGGAA 0.338000 4 67 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 3 46 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr1:12887612T>C ENST00000535591.1 - 3 440 c.245A>G c.(244-246)cAt>cGt p.H82R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 82 p.H82R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGCACCCATGGGCCATAGC 0.488000 4 298 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr9:732477G>A ENST00000382303.1 + 10 3757 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1035 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTGAAGAAGAGGAGGAGGAGG 0.468000 4 177 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803552 142803552 + RNA SNP T T A rs141013493 by1000genomes TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr1:142803552T>A ENST00000423385.1 - 0 1413 TCCTGATGAATCTGCAGTCAG 0.269000 8 205 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28194072 28194072 + Silent SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr22:28194072G>A ENST00000302326.4 - 1 3414 c.2460C>T c.(2458-2460)ttC>ttT p.F820F NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 820 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 AGCTCTGGCCGAACAGGTTGT 0.632000 T ETV6 """AML, meningioma""" 3 80 0 0 1 0 0 FAM218A 152756 broad.mit.edu 37 4 165878576 165878576 + Silent SNP T T C TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr4:165878576T>C ENST00000513876.2 + 1 477 c.402T>C c.(400-402)ccT>ccC p.P134P TRIM61_ENST00000329314.5_Intron NM_153027.1 NP_694572.1 Q96MZ4 CD039_HUMAN family with sequence similarity 218, member A 134 GGTCCCAGCCTCTTTTTGTGA 0.572000 3 75 0 0 1 0 0 MAP2K6 5608 broad.mit.edu 37 17 67515461 67515461 + Missense_Mutation SNP G G C TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr17:67515461G>C ENST00000590474.1 + 5 541 c.254G>C c.(253-255)cGa>cCa p.R85P MAP2K6_ENST00000589647.1_Missense_Mutation_p.R29P NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 85 Protein kinase. activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) CAGCGGATCCGAGCCACAGTA 0.468000 31 85 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75276498 75276498 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr14:75276498G>A ENST00000325680.7 + 7 5061 c.4937G>A c.(4936-4938)cGa>cAa p.R1646Q YLPM1_ENST00000238571.3_Missense_Mutation_p.R1451Q|YLPM1_ENST00000552421.1_Missense_Mutation_p.R940Q NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1451 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GGCCATGGCCGAGGTGAGTAA 0.468000 3 55 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070069 141070069 + RNA SNP C C T TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr9:141070069C>T ENST00000503395.1 + 0 1149 GGTACGTGCCCCGCGCTGTGC 0.711000 3 74 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54783712 54783712 + Missense_Mutation SNP G G A TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chrX:54783712G>A ENST00000218436.6 - 8 2824 c.2795C>T c.(2794-2796)aCt>aTt p.T932I NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 932 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity CAGAGTGGGAGTAAAGGGCAT 0.567000 3 69 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 4 114 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 4 295 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871070 170871070 + Silent SNP G G A rs142508797 byFrequency TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr6:170871070G>A ENST00000392092.2 + 3 525 c.246G>A c.(244-246)caG>caA p.Q82Q TBP_ENST00000230354.6_Silent_p.Q82Q|TBP_ENST00000540980.1_Silent_p.Q62Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 82 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.587000 3 48 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 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 30 84 0 0 1 0 0 WFDC3 140686 broad.mit.edu 37 20 44417689 44417689 + Missense_Mutation SNP C C G TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr20:44417689C>G ENST00000243938.4 - 3 175 c.92G>C c.(91-93)gGa>gCa p.G31A WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000372632.2_Missense_Mutation_p.G31A NM_080614.1 NP_542181.1 Q8IUB2 WFDC3_HUMAN WAP four-disulfide core domain 3 31 WAP 1. extracellular region serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(3)|prostate(1) 5 Myeloproliferative disorder(115;0.0122) AGGGCATTCTCCCTCTTTTGC 0.517000 4 205 0 0 1 0 0 MKRN1 23608 broad.mit.edu 37 7 140179061 140179061 + Frame_Shift_Del DEL G G - TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr7:140179061delG ENST00000255977.2 - 1 308 c.84delC c.(82-84)ccfs p.P28fs MKRN1_ENST00000437223.2_5'UTR|MKRN1_ENST00000443720.2_Frame_Shift_Del_p.P28fs|MKRN1_ENST00000481705.1_5'UTR NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 28 ligase activity|nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) GGATCGGGGTGGGGGAGgctg 0.701 2 4 --- --- --- --- RP11-493L12.5 0 broad.mit.edu 37 12 47761313 47761314 + RNA INS - - T rs57593482 TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr12:47761313_47761314insT ENST00000550019.1 + 0 262 ttcgctctctattttttttttt 0.406 8 2 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 7 227 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 7 267 --- --- --- --- SYNDIG1 79953 broad.mit.edu 37 20 24524183 24524185 + In_Frame_Del DEL GGA GGA - TCGA-DJ-A3UQ-01A-11D-A22D-08 TCGA-DJ-A3UQ-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73fc8e6f-827f-417a-a19d-3d473a02c8d5 0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3 g.chr20:24524183_24524185delGGA ENST00000376862.3 + 2 1083_1085 c.450_452delGGA c.(448-453)gtg>gt p.VE150del NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 150 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 CCTACGATGTGGAGGAGGAGGAG 0.547 7 345 --- --- --- ---