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 TIMM22 29928 broad.mit.edu 37 17 900397 900397 + Silent SNP C C A TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr17:900397C>A ENST00000327158.3 + 1 41 c.15C>A c.(13-15)gcC>gcA p.A5A NM_013337.2 NP_037469.2 Q9Y584 TIM22_HUMAN translocase of inner mitochondrial membrane 22 homolog (yeast) 5 transmembrane transport integral to membrane|mitochondrial inner membrane protein transporter activity breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) CGGCGGCCGCCCCCAATGCCG 0.672000 9 10 0.000274275 0.000274275 1 1 0 LRRC4C 57689 broad.mit.edu 37 11 40136666 40136666 + Missense_Mutation SNP C C A TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr11:40136666C>A ENST00000278198.2 - 2 3140 c.1177G>T c.(1177-1179)Gtc>Ttc p.V393F LRRC4C_ENST00000528697.1_Missense_Mutation_p.V393F|LRRC4C_ENST00000530763.1_Missense_Mutation_p.V393F|LRRC4C_ENST00000527150.1_Missense_Mutation_p.V393F Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 393 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TGTGTCATGACTGTTCCATTT 0.478000 40 74 8.01111e-26 8.33155e-26 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274319 39274319 + Missense_Mutation SNP G G C TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr17:39274319G>C ENST00000391413.2 - 1 287 c.249C>G c.(247-249)agC>agG p.S83R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 83 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.S83R(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCTTGCAGCAGCTGGACACAC 0.662000 3 42 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89856163 89856163 + Missense_Mutation SNP G G A TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr15:89856163G>A ENST00000310775.7 + 35 3766 c.3680G>A c.(3679-3681)gGa>gAa p.G1227E FANCI_ENST00000566615.1_3'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.G1167E NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 1227 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) AACTATACGGGAGAGAAAAAG 0.418000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 3 27 0 0 1 0 0 CYP27B1 1594 broad.mit.edu 37 12 58159094 58159094 + Missense_Mutation SNP T T C TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr12:58159094T>C ENST00000228606.4 - 3 784 c.575A>G c.(574-576)aAg>aGg p.K192R RP11-571M6.13_ENST00000546609.1_RNA NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 192 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) CAGTCCGAACTTGTAAAATTC 0.692000 OREG0021953 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 14 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79301030 79301030 + Missense_Mutation SNP A A G TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr4:79301030A>G ENST00000264895.6 + 27 3883 c.3443A>G c.(3442-3444)aAt>aGt p.N1148S FRAS1_ENST00000325942.6_Missense_Mutation_p.N1148S NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1147 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ACTCCCACCAATGGTCAGCTA 0.468000 10 16 0 0 1 0 0 AFM 173 broad.mit.edu 37 4 74364929 74364929 + Missense_Mutation SNP C C T TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr4:74364929C>T ENST00000226355.3 + 11 1481 c.1388C>T c.(1387-1389)aCg>aTg p.T463M NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 463 Albumin 3. vitamin transport vitamin E binding p.T463M(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ACTTGCTGTACGCTAAGTGAA 0.413000 9 14 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56814908 56814908 + Missense_Mutation SNP G G A TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr12:56814908G>A ENST00000229201.4 - 24 3030 c.2876C>T c.(2875-2877)gCg>gTg p.A959V TIMELESS_ENST00000554616.1_Missense_Mutation_p.A457V|TIMELESS_ENST00000553532.1_Missense_Mutation_p.A960V NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 960 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 CAGGGACTCCGCTCCATTTGG 0.512000 12 30 0 0 1 0 0 OR2B3 442184 broad.mit.edu 37 6 29054783 29054783 + Missense_Mutation SNP C C T TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr6:29054783C>T ENST00000377173.2 - 1 307 c.243G>A c.(241-243)atG>atA p.M81I NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 TATTTACCAACATATGAGGGA 0.448000 16 30 0 0 1 0 0 CAMK4 814 broad.mit.edu 37 5 110819825 110819825 + Silent SNP A A C TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr5:110819825A>C ENST00000282356.4 + 11 1481 c.1083A>C c.(1081-1083)ccA>ccC p.P361P CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Silent_p.P361P NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 361 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) ACCCTTCTCCAATCCAAGATG 0.587000 6 33 0 0 1 0 0 ABHD5 51099 broad.mit.edu 37 3 43759228 43759228 + Missense_Mutation SNP G G A TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr3:43759228G>A ENST00000458276.2 + 6 962 c.839G>A c.(838-840)cGa>cAa p.R280Q ABHD5_ENST00000463153.1_3'UTR NM_016006.4 NP_057090.2 Q8WTS1 ABHD5_HUMAN abhydrolase domain containing 5 280 cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process cytosol|lipid particle 1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1) 14 Renal(3;0.0134) KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687) ATGCTCCAGCGAATTGGTAAA 0.458000 3 50 0 0 1 0 0 ZXDB 158586 broad.mit.edu 37 X 57619097 57619097 + Missense_Mutation SNP G G A TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chrX:57619097G>A ENST00000374888.1 + 1 829 c.616G>A c.(616-618)Ggg>Agg p.G206R NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.G206R(2) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 CCAGCAGCCCGGGTGTCTGAT 0.711000 3 14 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149210402 149210402 + Missense_Mutation SNP C C T TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr5:149210402C>T ENST00000309241.5 + 4 570 c.538C>T c.(538-540)Cgc>Tgc p.R180C PPARGC1B_ENST00000403750.1_Intron|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R180C|PPARGC1B_ENST00000360453.4_Intron NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 180 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GACCGCCTGGCGCCAGGCAGG 0.562000 4 59 0 0 1 0 0 DGKA 1606 broad.mit.edu 37 12 56346638 56346638 + Missense_Mutation SNP A A G TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr12:56346638A>G ENST00000331886.5 + 21 2318 c.1864A>G c.(1864-1866)Atc>Gtc p.I622V DGKA_ENST00000551156.1_Missense_Mutation_p.I622V|DGKA_ENST00000394147.1_Missense_Mutation_p.I622V|DGKA_ENST00000549079.2_3'UTR NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 622 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) CCATGGGGATATCTATGGGAT 0.537000 27 81 0 0 1 0 0 TLDC1 57707 broad.mit.edu 37 16 84531595 84531595 + Missense_Mutation SNP G G A rs144320129 by1000genomes TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr16:84531595G>A ENST00000343629.6 - 2 280 c.98C>T c.(97-99)tCa>tTa p.S33L TLDC1_ENST00000561807.1_5'UTR|TLDC1_ENST00000535580.1_5'UTR NM_020947.3 NP_065998.3 TBC/LysM-associated domain containing 1 GTTTTTATCTGATGACAGAGC 0.483000 24 104 0 0 1 0 0 KERA 11081 broad.mit.edu 37 12 91445123 91445123 + Nonstop_Mutation SNP T T A TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr12:91445123T>A ENST00000266719.3 - 3 1306 c.1059A>T c.(1057-1059)taA>taT p.*353Y NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 0 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 GAGAATGTGTTTAAATAATGA 0.383000 3 17 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 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 13 28 0 0 1 0 0 RSU1 6251 broad.mit.edu 37 10 16824045 16824045 + Missense_Mutation SNP T T G TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr10:16824045T>G ENST00000377921.3 - 2 449 c.148A>C c.(148-150)Aac>Cac p.N50H RSU1_ENST00000602389.1_5'UTR|RSU1_ENST00000345264.5_Missense_Mutation_p.N50H|RSU1_ENST00000464074.2_Intron Q15404 RSU1_HUMAN Ras suppressor protein 1 50 cell junction assembly|signal transduction cytosol protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(1;7.54e-08) GTTAGCTTGTTATGGCTGAGG 0.368000 9 12 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887434 9887434 + Missense_Mutation SNP G G A TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr18:9887434G>A ENST00000306084.6 + 2 1157 c.958G>A c.(958-960)Gaa>Aaa p.E320K TXNDC2_ENST00000357775.4_Missense_Mutation_p.E253K|TXNDC2_ENST00000536353.2_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 320 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCCCAGAAGAAGCCATCCA 0.592000 19 50 0 0 1 0 0 RPGR 6103 broad.mit.edu 37 X 38169958 38169958 + Missense_Mutation SNP C C T TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chrX:38169958C>T ENST00000378505.2 - 7 864 c.688G>A c.(688-690)Ggc>Agc p.G230S RPGR_ENST00000342811.3_Missense_Mutation_p.G230S|RPGR_ENST00000338898.3_Missense_Mutation_p.G230S|RPGR_ENST00000309513.3_Missense_Mutation_p.G230S|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.G230S|RPGR_ENST00000339363.3_Missense_Mutation_p.G230S NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 230 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 CTGTGATTGCCCAGGAGCTGA 0.478000 9 15 0 0 1 0 0 PSMD14 10213 broad.mit.edu 37 2 162226642 162226642 + Frame_Shift_Del DEL C C - TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr2:162226642delC ENST00000409682.3 + 6 969 c.265delC c.(265-267)cafs p.P89fs NM_005805.5 NP_005796.1 O00487 PSDE_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 89 MPN. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2) 12 GGCAGTTGATCCAGTGTTCCA 0.313 2 4 --- --- --- --- SPACA1 81833 broad.mit.edu 37 6 88773843 88773843 + Frame_Shift_Del DEL C C - TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr6:88773843delC ENST00000237201.1 + 6 754 c.637delC c.(637-639)cafs p.P213fs SPACA1_ENST00000462690.1_Intron NM_030960.2 NP_112222.1 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 213 integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) ATCAAGCCTACCAGCCACTGA 0.333 28 43 --- --- --- --- ADSSL1 122622 broad.mit.edu 37 14 105196336 105196336 + Frame_Shift_Del DEL T T - TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr14:105196336delT ENST00000332972.5 + 1 266 c.107delT c.(106-108)ccfs p.L36fs ADSSL1_ENST00000330877.2_Intron NM_199165.1 NP_954634.1 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 0 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) AGCACAGCCCTCCCCTGGCTG 0.667 2 4 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-DJ-A3V5-01A-11D-A22Z-08 TCGA-DJ-A3V5-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3931a87c-3bd4-4502-ae05-671b7c4f2d0c 3ce6003f-639a-446e-bad7-ae6cd1e97418 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 2 4 --- --- --- ---