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 SLC8A3 6547 broad.mit.edu 37 14 70634771 70634771 + Silent SNP T T A TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr14:70634771T>A ENST00000381269.2 - 2 1122 c.369A>T c.(367-369)acA>acT p.T123T SLC8A3_ENST00000357887.3_Silent_p.T123T|SLC8A3_ENST00000534137.1_Silent_p.T123T|SLC8A3_ENST00000528359.1_Silent_p.T123T|SLC8A3_ENST00000356921.2_Silent_p.T123T NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 123 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GAATAGTGGTTGTGCTGGTTT 0.488000 12 43 0 0 1 0 0 DGCR2 9993 broad.mit.edu 37 22 19028788 19028788 + Silent SNP G G A TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr22:19028788G>A ENST00000263196.7 - 9 1426 c.1179C>T c.(1177-1179)ggC>ggT p.G393G DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Silent_p.G352G NM_001184781.1|NM_005137.2 NP_001171710.1|NP_005128.1 P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 393 cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) GGATCCTGCGGCCGAGGTTGA 0.622000 25 59 0 0 1 0 0 FLOT2 2319 broad.mit.edu 37 17 27209047 27209047 + Splice_Site SNP C C A TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr17:27209047C>A ENST00000394906.2 - 10 942 c.e10-1 FLOT2_ENST00000577789.1_Splice_Site|FLOT2_ENST00000394908.4_Splice_Site|FLOT2_ENST00000585169.1_Splice_Site Q14254 FLOT2_HUMAN flotillin 2 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction endometrium(3)|lung(6)|prostate(1)|urinary_tract(1) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) CCTCAGCTGTCTGTGGCAAGA 0.567000 5 52 0.00116845 0.00116845 1 1 0 DPPA3P2 0 broad.mit.edu 37 14 36840695 36840695 + RNA SNP A A G rs3742593 by1000genomes TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr14:36840695A>G ENST00000557188.1 + 0 326 TCCCGGGACGATTCAGGGGCC 0.478000 5 39 0 0 1 0 0 CKAP4 10970 broad.mit.edu 37 12 106633705 106633705 + Silent SNP G G A TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr12:106633705G>A ENST00000378026.4 - 2 1042 c.906C>T c.(904-906)tcC>tcT p.S302S CKAP4_ENST00000552828.1_5'UTR NM_006825.3 NP_006816.2 Q07065 CKAP4_HUMAN cytoskeleton-associated protein 4 302 ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1) 20 CCCACTCTCTGGACTTGGCTG 0.537000 24 136 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr22:44083357C>T ENST00000262726.7 - 11 1389 c.1136G>A c.(1135-1137)aGa>aAa p.R379K EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308000 9 33 0 0 1 0 0 LRRC17 10234 broad.mit.edu 37 7 102574783 102574783 + Missense_Mutation SNP C C G TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr7:102574783C>G ENST00000249377.4 + 2 704 c.423C>G c.(421-423)atC>atG p.I141M FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.I141M NM_005824.2 NP_005815.2 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 141 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 ACAACCAGATCAAAGTCTTGA 0.448000 6 83 0 0 1 0 0 BBS12 166379 broad.mit.edu 37 4 123664933 123664933 + Missense_Mutation SNP C C G TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr4:123664933C>G ENST00000542236.1 + 3 2267 c.1886C>G c.(1885-1887)tCt>tGt p.S629C BBS12_ENST00000314218.3_Missense_Mutation_p.S629C NM_001178007.1 NP_001171478.1 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 629 cellular protein metabolic process cilium ATP binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4) 21 GCCACAGACTCTGGCTCTCCT 0.348000 Bardet-Biedl syndrome 17 61 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76751735 76751735 + Missense_Mutation SNP C C T rs147225489 byFrequency TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr6:76751735C>T ENST00000369950.3 - 2 365 c.176G>A c.(175-177)cGa>cAa p.R59Q IMPG1_ENST00000369963.3_Intron NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 59 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) ATCGAATATTCGTCTCATAGT 0.358000 40 81 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16262471 16262471 + Missense_Mutation SNP A A C TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr1:16262471A>C ENST00000375759.3 + 11 9940 c.9736A>C c.(9736-9738)Acc>Ccc p.T3246P NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3246 Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ccccacccccacccctgcccc 0.662000 3 17 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152285621 152285621 + Missense_Mutation SNP T T A rs145627745 byFrequency TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr1:152285621T>A ENST00000368799.1 - 3 1776 c.1741A>T c.(1741-1743)Acc>Tcc p.T581S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 581 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGTGCCTGGTGCCGTCTCCT 0.567000 Ichthyosis 21 448 0 0 1 0 0 CRYM 1428 broad.mit.edu 37 16 21272640 21272640 + Missense_Mutation SNP A A T TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr16:21272640A>T ENST00000219599.3 - 9 1080 c.815T>A c.(814-816)cTg>cAg p.L272Q CRYM_ENST00000415987.2_Missense_Mutation_p.L230Q|CRYM_ENST00000396023.2_Missense_Mutation_p.L272Q|CRYM_ENST00000543948.1_Missense_Mutation_p.L272Q NM_001888.3 NP_001879.1 Q14894 CRYM_HUMAN crystallin, mu 272 negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport cytoplasm|nucleus|plasma membrane NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity large_intestine(1)|lung(3) 4 GBM - Glioblastoma multiforme(48;0.0573) Levothyroxine(DB00451) CACTTCTCCCAGCTCAGCAAA 0.507000 10 35 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 60 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 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 24 79 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113147636 113147636 + Frame_Shift_Del DEL A A - TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr2:113147636delA ENST00000302558.3 - 20 3077 c.2886delT c.(2884-2886)ttfs p.F962fs RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 TTGTTTGGCCAAAAATCACAC 0.408 7 249 --- --- --- --- UBP1 7342 broad.mit.edu 37 3 33437658 33437661 + Frame_Shift_Del DEL GGGT GGGT - TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr3:33437658_33437661delGGGT ENST00000283629.3 - 13 1912_1915 c.1383_1386delACCC c.(1381-1386)gcfs p.AP461fs UBP1_ENST00000283628.5_Frame_Shift_Del_p.AP461fs|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Frame_Shift_Del_p.AP425fs NM_001128161.1|NM_014517.4 NP_001121633.1|NP_055332.3 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) 461 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.P462S(1) breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2) 23 ACCTACCATAGGGTGCCCCACTGC 0.534 7 147 --- --- --- --- AC005682.5 0 broad.mit.edu 37 7 22896087 22896089 + RNA DEL AAA AAA - rs58988088 TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr7:22896087_22896089delAAA ENST00000415611.2 + 0 25 ACCACTCATTAAAAAACAAAATT 0.345 2 4 --- --- --- --- RP11-3B12.2 0 broad.mit.edu 37 7 124940517 124940517 + RNA DEL G G - TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr7:124940517delG ENST00000424515.2 + 0 648 ttttttttttGCAATTTTGTA 0.264 3 5 --- --- --- --- RP11-493L12.5 0 broad.mit.edu 37 12 47761313 47761314 + RNA INS - - T rs57593482 TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr12:47761313_47761314insT ENST00000550019.1 + 0 262 ttcgctctctattttttttttt 0.406 3 5 --- --- --- --- RPS11P6 0 broad.mit.edu 37 12 64660102 64660102 + RNA DEL T T - TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr12:64660102delT ENST00000535684.1 + 0 319 TCTTAGAACCTTTTTTTCTGG 0.393 2 4 --- --- --- --- TRAV9-2 0 broad.mit.edu 37 14 22409539 22409539 + RNA DEL C C - rs2178778 TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr14:22409539delC ENST00000390441.2 + 0 102 ctctctctctctTTTTTTTTT 0.428 2 4 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 8 162 --- --- --- --- OSBP2 23762 broad.mit.edu 37 22 31090938 31090939 + Frame_Shift_Ins INS - - G rs143022866 by1000genomes TCGA-DJ-A3VF-01A-11D-A23M-08 TCGA-DJ-A3VF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e5477ece-95a6-4fdf-a9df-e81444e69336 d269d2ff-62b4-48c6-8020-9473ae00cbb2 g.chr22:31090938_31090939insG ENST00000332585.6 + 1 146_147 c.42_43insG c.(40-45)gggccgfs p.P15fs OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000382310.3_Frame_Shift_Ins_p.P15fs|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000446658.2_Frame_Shift_Ins_p.P15fs NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 15 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 GCGGCTGTGGCGGCCGCTCCCG 0.792 2 4 --- --- --- ---