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 SLC45A4 57210 broad.mit.edu 37 8 142231785 142231785 + Silent SNP A A T TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr8:142231785A>T ENST00000519067.1 - 2 471 c.168T>A c.(166-168)tcT>tcA p.S56S SLC45A4_ENST00000024061.3_Silent_p.S56S|SLC45A4_ENST00000433583.2_Silent_p.S49S|SLC45A4_ENST00000517878.1_Silent_p.S107S Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 107 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GGTCACTCGCAGACCCAATGA 0.632000 11 88 0 0 0.105934 0 0 GRM1 2911 broad.mit.edu 37 6 146351093 146351093 + Missense_Mutation SNP T T C TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr6:146351093T>C ENST00000392299.2 + 2 910 c.440T>C c.(439-441)cTc>cCc p.L147P GRM1_ENST00000492807.2_Missense_Mutation_p.L147P|GRM1_ENST00000355289.4_Missense_Mutation_p.L147P|GRM1_ENST00000507907.1_Missense_Mutation_p.L147P|GRM1_ENST00000361719.2_Missense_Mutation_p.L147P|GRM1_ENST00000282753.1_Missense_Mutation_p.L147P Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 147 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGCCAGTCCCTCCCCCCAGGC 0.562000 3 113 0 0 0.115264 0 0 S100A6 6277 broad.mit.edu 37 1 153507784 153507784 + Missense_Mutation SNP A A C TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr1:153507784A>C ENST00000368720.2 - 3 334 c.32T>G c.(31-33)cTc>cGc p.L11R S100A6_ENST00000496817.1_Missense_Mutation_p.L11R|S100A6_ENST00000368719.4_Missense_Mutation_p.L11R P06703 S10A6_HUMAN S100 calcium binding protein A6 11 axonogenesis|positive regulation of fibroblast proliferation|signal transduction cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding|tropomyosin binding ovary(1) 1 all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GGCCACGAGGAGGCCAATGGC 0.602000 6 81 0 0 0.021553 0 0 C1orf101 257044 broad.mit.edu 37 1 244724433 244724433 + Missense_Mutation SNP A A T TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr1:244724433A>T ENST00000366534.4 + 10 1547 c.1493A>T c.(1492-1494)cAt>cTt p.H498L C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.H498L|C1orf101_ENST00000366531.3_Missense_Mutation_p.H347L NM_001130957.1 NP_001124429.1 Q5SY80 CA101_HUMAN chromosome 1 open reading frame 101 498 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 36 all_cancers(71;2.99e-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(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) AGCATTATTCATGAAGTTTTC 0.328000 6 92 0 0 0.021553 0 0 PRG4 10216 broad.mit.edu 37 1 186276357 186276357 + Silent SNP T T C TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr1:186276357T>C ENST00000445192.2 + 7 1551 c.1506T>C c.(1504-1506)acT>acC p.T502T PRG4_ENST00000367483.4_Silent_p.T461T|PRG4_ENST00000367485.4_Silent_p.T409T|PRG4_ENST00000367486.3_Silent_p.T459T|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 502 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACTCCCAAGGAGC 0.647000 6 125 0 0 0.080935 0 0 OR2M3 127062 broad.mit.edu 37 1 248367157 248367157 + Missense_Mutation SNP C C T TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr1:248367157C>T ENST00000456743.1 + 1 826 c.788C>T c.(787-789)aCa>aTa p.T263I NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATACGGCCCACATCTGATCGC 0.502000 67 125 0 0 0.139131 0 0 ANKRD20A2 441430 broad.mit.edu 37 9 42368593 42368593 + Missense_Mutation SNP T T A TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr9:42368593T>A ENST00000377601.2 + 1 291 c.179T>A c.(178-180)cTg>cAg p.L60Q NM_001012421.1 NP_001012421.1 Q5SQ80 A20A2_HUMAN ankyrin repeat domain 20 family, member A2 60 large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 4 AGCGGAGACCTGGACGCCCTG 0.716000 4 99 0 0 0.014758 0 0 ALPK3 57538 broad.mit.edu 37 15 85401117 85401117 + Missense_Mutation SNP G G A TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr15:85401117G>A ENST00000258888.5 + 6 3921 c.3754G>A c.(3754-3756)Gct>Act p.A1252T NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1252 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) TGAGGTGCAGGCTGGCCGCCA 0.682000 3 27 0 0 0.115264 0 0 C15orf43 145645 broad.mit.edu 37 15 45249168 45249168 + Missense_Mutation SNP A A G TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr15:45249168A>G ENST00000340827.3 + 2 156 c.139A>G c.(139-141)Acg>Gcg p.T47A NM_152448.2 NP_689661.1 Q8NHR7 CO043_HUMAN chromosome 15 open reading frame 43 47 NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2) 8 all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192) all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06) GCACCCAGACACGCTGAGGTA 0.552000 3 62 0 0 0.009096 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33403335 33403335 + Missense_Mutation SNP C C T TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr6:33403335C>T ENST00000418600.2 + 7 808 c.707C>T c.(706-708)gCg>gTg p.A236V SYNGAP1_ENST00000293748.5_Missense_Mutation_p.A236V|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.A177V NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 236 PH. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TGTCGGTCTGCGGCCGAAAGA 0.507000 4 198 0 0 0.014758 0 0 ASXL1 171023 broad.mit.edu 37 20 31023131 31023131 + Silent SNP C C T TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr20:31023131C>T ENST00000375687.4 + 13 3040 c.2616C>T c.(2614-2616)tgC>tgT p.C872C ASXL1_ENST00000306058.5_Silent_p.C867C NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 872 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 GTGGCTCATGCCCTCCTATGA 0.463000 """F, N, Mis""" """MDS, CMML""" 5 187 0 0 0.014758 0 0 DST 667 broad.mit.edu 37 6 56458993 56458993 + Splice_Site SNP T T C TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr6:56458993T>C ENST00000370754.5 - 48 12102 c.e48-2 DST_ENST00000421834.2_Splice_Site|DST_ENST00000446842.2_Splice_Site|DST_ENST00000312431.6_Splice_Site|DST_ENST00000370769.4_Splice_Site|DST_ENST00000370788.2_Splice_Site|DST_ENST00000244364.6_Splice_Site|DST_ENST00000361203.3_Splice_Site Q03001 DYST_HUMAN dystonin cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GTGTTGGGCCTATGTGAAAAC 0.473000 3 178 0 0 0.009096 0 0 VPS13A 23230 broad.mit.edu 37 9 79867160 79867160 + Missense_Mutation SNP G G C TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr9:79867160G>C ENST00000360280.3 + 22 2440 c.2180G>C c.(2179-2181)tGg>tCg p.W727S VPS13A_ENST00000357409.5_Missense_Mutation_p.W727S|VPS13A_ENST00000376634.4_Missense_Mutation_p.W727S|VPS13A_ENST00000376636.3_Missense_Mutation_p.W727S NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 727 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GGTGATAATTGGAGAGAAGCA 0.343000 3 104 0 0 0.014758 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 4 123 0 0 0.038147 0 0 ZNF799 90576 broad.mit.edu 37 19 12502822 12502822 + Silent SNP T T C TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr19:12502822T>C ENST00000419318.1 - 4 1043 c.294A>G c.(292-294)ccA>ccG p.P98P CTD-3105H18.16_ENST00000595562.1_Silent_p.P130P|CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.P130P Q96GE5 ZN799_HUMAN zinc finger protein 799 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 GATACTCATATGGTTTGTGCC 0.443000 5 139 0 0 0.014758 0 0 RHPN2 85415 broad.mit.edu 37 19 33493198 33493198 + Missense_Mutation SNP C C A TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr19:33493198C>A ENST00000254260.3 - 9 1095 c.1060G>T c.(1060-1062)Gcc>Tcc p.A354S RHPN2_ENST00000400226.4_Missense_Mutation_p.A203S NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 354 BRO1. signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) TGGGCCAGGGCCGCGTAGTGG 0.642000 5 59 5.9392e-07 8.48457e-07 0.021553 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 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 35 58 0 0 0.064281 0 0 IL22 50616 broad.mit.edu 37 12 68646552 68646552 + Missense_Mutation SNP C C T TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr12:68646552C>T ENST00000538666.1 - 3 314 c.244G>A c.(244-246)Gga>Aga p.G82R IL22_ENST00000328087.4_Missense_Mutation_p.G82R Q9GZX6 IL22_HUMAN interleukin 22 82 acute-phase response extracellular space cytokine activity|interleukin-22 receptor binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 14 Myeloproliferative disorder(1001;0.0255) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104) ACACTGACTCCGTGGAACAGT 0.498000 4 82 0 0 0.014758 0 0 GALNT15 117248 broad.mit.edu 37 3 16254129 16254129 + Silent SNP C C T TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr3:16254129C>T ENST00000339732.5 + 6 1754 c.1251C>T c.(1249-1251)caC>caT p.H417H GALNT15_ENST00000437509.1_Silent_p.H417H NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 GGGTAGGACACATCTACCAAA 0.532000 21 43 0 0 0.049695 0 0 CFD 1675 broad.mit.edu 37 19 860954 860954 + Silent SNP C C A TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr19:860954C>A ENST00000327726.6 + 3 543 c.306C>A c.(304-306)ccC>ccA p.P102P CFD_ENST00000592860.1_Silent_p.P109P NM_001928.2 NP_001919.2 P00746 CFAD_HUMAN complement factor D (adipsin) 102 Peptidase S1. complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis platelet alpha granule lumen serine-type endopeptidase activity Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGCAGTGCCCCACCCGGACA 0.721000 3 20 0.00909568 0.0121276 0.009096 1 0 MCC 4163 broad.mit.edu 37 5 112420872 112420872 + Missense_Mutation SNP G G A TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr5:112420872G>A ENST00000302475.4 - 7 1527 c.964C>T c.(964-966)Ccc>Tcc p.P322S MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.P259S|MCC_ENST00000408903.3_Missense_Mutation_p.P512S NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 322 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) TTGGCGATGGGAATGTCATTG 0.612000 28 124 0 0 0.125774 0 0 PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 3 3 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 2 4 --- --- --- --- RP11-51O6.1 0 broad.mit.edu 37 16 61089302 61089302 + RNA DEL C C - rs80101907 TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr16:61089302delC ENST00000591758.1 - 0 566 GCttcttcttctttttttttt 0.244 8 16 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55143156 55143157 + Frame_Shift_Del DEL TG TG - rs12462774 by1000genomes TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr19:55143156_55143157delTG ENST00000396331.1 + 5 633_634 c.276_277delTG c.(274-279)cacafs p.HA92fs LILRB1_ENST00000396317.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000448689.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396332.4_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.HA128fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396321.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.HA92fs NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 92 Ig-like C2-type 1. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CCTGGGAACATGCAGGGCGGTA 0.554 HNSCC(37;0.09) 8 136 --- --- --- --- TRIM28 10155 broad.mit.edu 37 19 59060278 59060279 + Splice_Site INS - - T rs111630223 TCGA-EM-A3AK-01A-11D-A202-08 TCGA-EM-A3AK-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 815390f2-b204-4cf0-83be-831e4aa3fa54 685117cd-be36-48a9-ad48-fbb85198ef57 g.chr19:59060278_59060279insT ENST00000253024.5 + 11 1698 c.e11+1 TRIM28_ENST00000341753.6_Splice_Site NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) GTGTGAAACGGTAAGTATGGCA 0.564 15 80 --- --- --- ---