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 PCDHAC2 56134 broad.mit.edu 37 5 140167696 140167696 + Silent SNP G G A TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr5:140167696G>A uc003lhb.2 + 0 1821 c.1821G>A c.(1819-1821)ctG>ctA p.L607L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.L607L NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 620 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCGTGGCTGTCCTATGAAC 0.672000 4 199 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7649609 7649609 + Missense_Mutation SNP G G A TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr12:7649609G>A uc001qsz.3 - 4 1027 c.899C>T c.(898-900)gCt>gTt p.A300V CD163_uc001qta.3_Missense_Mutation_p.A300V|CD163_uc009zfw.2_Missense_Mutation_p.A300V NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 300 SRCR 3. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.D299H(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TGCCACAGCAGCATCGTAACT 0.498000 3 129 0 0 1 0 0 TPPP3 51673 broad.mit.edu 37 16 67424874 67424874 + Silent SNP T T A TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr16:67424874T>A uc002esz.3 - 0 976 c.141A>T c.(139-141)ggA>ggT p.G47G TPPP3_uc002etb.3_Silent_p.G47G|TPPP3_uc002eta.3_Silent_p.G47G|U1_uc021tkb.1_5'Flank NM_016140 NP_057224 Q9BW30 TPPP3_HUMAN Homo sapiens tubulin polymerization-promoting protein family member 3 (TPPP3), mRNA. 47 microtubule bundle formation cytoplasm|microtubule calcium ion binding|tubulin binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781) TCACGGACTTTCCGTCAGCCA 0.572000 23 76 0 0 1 0 0 FAM40B 57464 broad.mit.edu 37 7 129102860 129102860 + Silent SNP G G A TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr7:129102860G>A uc011koy.2 + 13 1570 c.1530G>A c.(1528-1530)ctG>ctA p.L510L FAM40B_uc003vow.3_Silent_p.L510L|FAM40B_uc011koz.2_Silent_p.L2L NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA. 510 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGGGAATGCTGTACAGCCTTC 0.507000 4 83 0 0 1 0 0 CSF3R 1441 broad.mit.edu 37 1 36941036 36941036 + Silent SNP G G A TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr1:36941036G>A uc001cax.2 - 3 887 c.303C>T c.(301-303)tgC>tgT p.C101C CSF3R_uc001cav.2_Silent_p.C101C|CSF3R_uc001caw.2_Silent_p.C101C NM_156039 NP_724781 Q99062 CSF3R_HUMAN Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 3, mRNA. 101 Ig-like C2-type. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) AGTTCAGGCAGCAGGAGAGAA 0.607000 4 153 0 0 1 0 0 KDM8 79831 broad.mit.edu 37 16 27230341 27230341 + Silent SNP G G A TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr16:27230341G>A uc010vcn.1 + 5 1135 c.1017G>A c.(1015-1017)gaG>gaA p.E339E KDM8_uc002doh.2_Silent_p.E301E|KDM8_uc010bxw.2_Intron|KDM8_uc010bxx.2_Non-coding_Transcript NM_001145348 NP_079049 Q8N371 KDM8_HUMAN Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA. 301 JmjC. G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GCGATGGGGAGGAGGAGGAAA 0.582000 4 139 0 0 1 0 0 BAG2 9532 broad.mit.edu 37 6 57037528 57037528 + Missense_Mutation SNP C C G TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr6:57037528C>G uc003pdr.3 + 0 425 c.33C>G c.(31-33)aaC>aaG p.N11K BC032020_uc003pdq.1_5'Flank|BAG2_uc011dxo.2_5'Flank NM_004282 NP_004273 O95816 BAG2_HUMAN Homo sapiens BCL2-associated athanogene 2 (BAG2), mRNA. 11 apoptosis|protein folding protein binding endometrium(1)|large_intestine(1) 2 Lung NSC(77;0.126) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) CTAAAGCCAACGAGGGGCGCT 0.687000 6 5 0 0 1 0 0 SCN1B 6324 broad.mit.edu 37 19 35523482 35523482 + Missense_Mutation SNP G G A TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr19:35523482G>A uc002nxo.2 + 1 224 c.91G>A c.(91-93)Gtg>Atg p.V31M SCN1B_uc002nxp.3_Missense_Mutation_p.V31M|SCN1B_uc010xsg.2_Missense_Mutation_p.V31M NM_199037 NP_950238 Q07699 SCN1B_HUMAN Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant b, mRNA. 31 Ig-like C2-type. axon guidance|synaptic transmission integral to membrane voltage-gated sodium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3) 11 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GACCGAGGCCGTGTATGGGAT 0.622000 4 201 0 0 1 0 0 ATP6V1A 523 broad.mit.edu 37 3 113505224 113505224 + Missense_Mutation SNP T T C TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr3:113505224T>C uc003eao.3 + 5 818 c.710T>C c.(709-711)cTt>cCt p.L237P ATP6V1A_uc011bik.2_Missense_Mutation_p.L204P NM_001690 NP_001681 P38606 VATA_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA. 237 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTTGATGCCCTTTTTCCGTAA 0.423000 3 263 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45901354 45901354 + Missense_Mutation SNP G G A TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr19:45901354G>A uc002pbn.3 - 2 184 c.107C>T c.(106-108)gCg>gTg p.A36V PPP1R13L_uc002pbo.3_Missense_Mutation_p.A36V|PPP1R13L_uc002pbp.2_Missense_Mutation_p.A36V NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA. 36 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CACCTTGGCCGCCGCCGTGTC 0.652000 3 117 0 0 1 0 0 CHAF1A 10036 broad.mit.edu 37 19 4433112 4433112 + Missense_Mutation SNP G G A TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr19:4433112G>A uc002mal.3 + 12 2349 c.2249G>A c.(2248-2250)aGc>aAc p.S750N NM_005483 NP_005474 Q13111 CAF1A_HUMAN Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA. 750 Binds to p60. DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GTGAACGGGAGCAAGGTCATC 0.667000 Chromatin Structure 3 40 0 0 1 0 0 SYTL4 94121 broad.mit.edu 37 X 99955909 99955909 + Missense_Mutation SNP G G A TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chrX:99955909G>A uc004egd.4 - 6 879 c.523C>T c.(523-525)Cgg>Tgg p.R175W SYTL4_uc010nnc.3_Missense_Mutation_p.R175W|SYTL4_uc004ege.4_Missense_Mutation_p.R175W|SYTL4_uc004egf.4_Missense_Mutation_p.R175W|SYTL4_uc004egg.4_Missense_Mutation_p.R175W NM_080737 NP_542775 Q96C24 SYTL4_HUMAN Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA. 175 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCCTTCTGCCGCTCCTGAATG 0.388000 17 206 0 0 1 0 0 SCAMP2 10066 broad.mit.edu 37 15 75137837 75137837 + Missense_Mutation SNP G G A TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr15:75137837G>A uc002azb.1 - 7 906 c.832C>T c.(832-834)Ctc>Ttc p.L278F ULK3_uc010ulp.1_5'Flank|ULK3_uc010ulq.1_5'Flank|ULK3_uc010ulr.1_5'Flank|ULK3_uc010bkf.1_5'Flank|ULK3_uc002ayv.2_5'Flank|ULK3_uc010uls.1_5'Flank|ULK3_uc010ult.1_5'Flank|ULK3_uc010ulu.1_5'Flank|SCAMP2_uc002aza.1_Missense_Mutation_p.L128F NM_005697 NP_005688 O15127 SCAM2_HUMAN Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA. 278 post-Golgi vesicle-mediated transport|protein transport integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 9 AAGACTGAGAGCACGGCACAG 0.562000 4 283 0 0 1 0 0 RNF146 81847 broad.mit.edu 37 6 127608035 127608036 + Missense_Mutation DNP GA GA CT TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr6:127608035_127608036GA>CT uc021zes.1 + 2 413_414 c.277_278GA>CT c.(277-279)gaa>CTa p.E93L RNF146_uc021zet.1_Missense_Mutation_p.E92L|RNF146_uc021zeu.1_Missense_Mutation_p.E92L|RNF146_uc021zev.1_Missense_Mutation_p.E92L|RNF146_uc021zew.1_Missense_Mutation_p.E93L|RNF146_uc003qat.3_Missense_Mutation_p.E92L|RNF146_uc021zex.1_Missense_Mutation_p.E92L|RNF146_uc003qaw.3_Missense_Mutation_p.E92L|RNF146_uc003qau.3_Missense_Mutation_p.E92L|RNF146_uc003qav.3_Missense_Mutation_p.E93L|RNF146_uc021zey.1_Missense_Mutation_p.E92L NM_001242851 NP_001229780 Q9NTX7 RN146_HUMAN Homo sapiens ring finger protein 146 (RNF146), transcript variant 10, mRNA. 93 WWE. Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2) GTCACCAGAAGAACTCAAGGCA 0.460000 26 33 0 0 1 0 0 SGSM3 27352 broad.mit.edu 37 22 40805710 40805710 + Missense_Mutation SNP G G A TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr22:40805710G>A uc003ayu.1 + 21 2406 c.2197G>A c.(2197-2199)Gtc>Atc p.V733I SGSM3_uc011aot.1_Missense_Mutation_p.V644I NM_015705 NP_056520 Q96HU1 SGSM3_HUMAN Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA. 733 Rap protein signal transduction|cell cycle arrest cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 GAAGGAGGGCGTCCGGGACAT 0.662000 4 169 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27020729 27020729 + Missense_Mutation SNP G G C TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr17:27020729G>C uc010crt.3 + 28 3841 c.3649G>C c.(3649-3651)Gac>Cac p.D1217H SUPT6H_uc002hby.3_Missense_Mutation_p.D1217H NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA. 1217 S1 motif. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GAACCACTTTGACAGCGGTTC 0.502000 25 78 0 0 1 0 0 PROM2 150696 broad.mit.edu 37 2 95947921 95947921 + Missense_Mutation SNP G G A TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr2:95947921G>A uc002suk.3 + 13 1808 c.1675G>A c.(1675-1677)Gtc>Atc p.V559I PROM2_uc002suh.2_Missense_Mutation_p.V559I|PROM2_uc002sui.3_Missense_Mutation_p.V559I|PROM2_uc002suj.3_Missense_Mutation_p.V213I|PROM2_uc002sul.3_Missense_Mutation_p.V85I|PROM2_uc002sum.3_Non-coding_Transcript NM_001165977 NP_653308 Q8N271 PROM2_HUMAN Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA. 559 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 GCTCTGGACAGTCCTGCAGCT 0.617000 3 51 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 18014116 18014116 + Missense_Mutation SNP G G T TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr1:18014116G>T uc001ban.3 + 26 3217 c.3058G>T c.(3058-3060)Gtg>Ttg p.V1020L ARHGEF10L_uc009vpe.1_Missense_Mutation_p.V981L|ARHGEF10L_uc001bao.3_Missense_Mutation_p.V981L|ARHGEF10L_uc001bap.3_Missense_Mutation_p.V976L|ARHGEF10L_uc001baq.3_Missense_Mutation_p.V781L|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.V793L|ARHGEF10L_uc001bar.3_Missense_Mutation_p.V723L|ARHGEF10L_uc009vpf.3_Non-coding_Transcript NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA. 1020 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) GACACACATGGTGAAGGCGGG 0.622000 38 39 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185146741 185146741 + Silent SNP C C A TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr3:185146741C>A uc010hyf.3 + 2 663 c.372C>A c.(370-372)ggC>ggA p.G124G MAP3K13_uc011brt.2_Intron|MAP3K13_uc003fph.4_Intron|MAP3K13_uc011bru.2_Intron|MAP3K13_uc003fpi.3_Silent_p.G124G|MAP3K13_uc010hyg.3_5'UTR NM_001242314 NP_001229243 O43283 M3K13_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA. 124 JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GCAGGTCAGGCAGTGGCAGTG 0.488000 3 102 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61566087 61566087 + Missense_Mutation SNP G G A TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr17:61566087G>A uc002jau.2 + 15 2418 c.2384G>A c.(2383-2385)gGg>gAg p.G795E ACE_uc010wpj.2_Missense_Mutation_p.G221E|ACE_uc010ddv.2_Missense_Mutation_p.G22E|ACE_uc002jav.2_Missense_Mutation_p.G221E|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.G105E NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 795 Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GACAAGGCGGGGAGAGCCATC 0.557000 3 148 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 45 72 0 0 1 0 0 GUK1 2987 broad.mit.edu 37 1 228335126 228335126 + Missense_Mutation SNP G G A TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr1:228335126G>A uc021pkf.1 + 4 409 c.334G>A c.(334-336)Gtg>Atg p.V112M GUK1_uc021pke.1_Missense_Mutation_p.V91M|GUK1_uc001hsj.3_Missense_Mutation_p.V31M|GUK1_uc001hsh.3_Missense_Mutation_p.V91M|GUK1_uc001hsi.3_Missense_Mutation_p.V112M|GUK1_uc010pvv.2_Missense_Mutation_p.V91M|GJC2_uc001hsk.3_5'Flank NM_001242840 NP_001229769 Q16774 KGUA_HUMAN Homo sapiens guanylate kinase 1 (GUK1), transcript variant 5, mRNA. 91 Guanylate kinase-like. nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process cytosol ATP binding|guanylate kinase activity endometrium(2)|lung(5)|prostate(1)|soft_tissue(1) 9 Prostate(94;0.0405) GGTGCAGGCCGTGCAGGCCAT 0.657000 4 157 0 0 1 0 0 VPS33B 26276 broad.mit.edu 37 15 91565471 91565471 + Frame_Shift_Del DEL A A - TCGA-EL-A3T7-01A-11D-A22D-08 TCGA-EL-A3T7-11A-21D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c40c7f60-923b-4cb0-85b9-677694924158 30302df7-048d-488b-a8e3-1f9549d4fccf g.chr15:91565471delA uc002bqp.1 - 0 363 c.9delT c.(7-9)tttfs p.F3fs VPS33B_uc002bqq.1_5'UTR|VPS33B_uc010uqu.1_Frame_Shift_Del_p.F3fs|AK055351_uc002bqr.2_5'Flank NM_018668 NP_061138 Q9H267 VP33B_HUMAN Homo sapiens vacuolar protein sorting 33 homolog B (yeast) (VPS33B), mRNA. 3 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) GCCGATGGGGAAAAGCCATGG 0.652 2 4 --- --- --- ---