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 ANKRD36 375248 broad.mit.edu 37 2 97808552 97808552 + Missense_Mutation SNP A A G TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr2:97808552A>G ENST00000420699.2 + 8 1125 c.881A>G c.(880-882)gAt>gGt p.D294G ANKRD36_ENST00000461153.2_Missense_Mutation_p.D294G NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 294 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 GAAATAAAGGATGGACAAAAA 0.353000 4 6 0 0 1 0 0 SERPINB11 89778 broad.mit.edu 37 18 61379924 61379924 + RNA SNP T T A TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr18:61379924T>A ENST00000544088.1 + 0 416 SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) TGGCATTTCATCAGGTAAGTC 0.438000 34 46 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97867960 97867960 + Missense_Mutation SNP C C G TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr2:97867960C>G ENST00000420699.2 + 47 3123 c.2879C>G c.(2878-2880)gCc>gGc p.A960G ANKRD36_ENST00000461153.2_Missense_Mutation_p.A960G NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 960 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 AAACCACCAGCCTTGAAGGTA 0.338000 3 37 0 0 1 0 0 CCDC97 90324 broad.mit.edu 37 19 41822618 41822618 + Missense_Mutation SNP G G A TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr19:41822618G>A ENST00000269967.3 + 2 498 c.376G>A c.(376-378)Gtg>Atg p.V126M NM_052848.1 NP_443080.1 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 126 biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 17 CTTTGGCCACGTGCGTGGCGA 0.677000 5 37 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55449556 55449556 + Missense_Mutation SNP C C T TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr19:55449556C>T ENST00000588756.1 - 7 2471 c.1985G>A c.(1984-1986)cGc>cAc p.R662H NLRP7_ENST00000590030.1_Missense_Mutation_p.R662H|NLRP7_ENST00000592784.1_Missense_Mutation_p.R662H|NLRP7_ENST00000446217.1_Missense_Mutation_p.R690H|NLRP7_ENST00000340844.2_Missense_Mutation_p.R662H|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000448121.2_Intron Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 662 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TGTCCAGAGGCGAAGAGAGCG 0.493000 4 111 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 69366808 69366808 + Splice_Site SNP C C A TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr10:69366808C>A ENST00000433211.1 - 3 274 c.e3-1 CTNNA3_ENST00000373744.4_Splice_Site|CTNNA3_ENST00000545309.1_Splice_Site NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 GTGTGGTAACCTAAAATTGGA 0.408000 18 31 6.94344e-10 8.24534e-10 1 1 0 AIM1 202 broad.mit.edu 37 6 107011755 107011755 + Silent SNP C C A TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr6:107011755C>A ENST00000369066.3 + 19 5518 c.5031C>A c.(5029-5031)ggC>ggA p.G1677G AIM1_ENST00000535438.1_Silent_p.G496G NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1677 Ricin B-type lectin. sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AGTCCGATGGCAGGATTTACA 0.443000 4 84 1 1 1 1 0 KMT2D 8085 broad.mit.edu 37 12 49427459 49427459 + Silent SNP G G A TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr12:49427459G>A ENST00000301067.7 - 39 11028 c.11029C>T c.(11029-11031)Ctg>Ttg p.L3677L NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TGTTGGGCCAGAGCTGTATTA 0.637000 30 62 0 0 1 0 0 IQCG 84223 broad.mit.edu 37 3 197616452 197616452 + Nonstop_Mutation SNP C C G TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr3:197616452C>G ENST00000265239.6 - 12 1755 c.1331G>C c.(1330-1332)tGa>tCa p.*444S IQCG_ENST00000455191.1_Nonstop_Mutation_p.*444S NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 0 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) AGAACTTGGTCACTTCTTCTT 0.423000 13 121 0 0 1 0 0 AIMP1 9255 broad.mit.edu 37 4 107258085 107258085 + Silent SNP A A G TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr4:107258085A>G ENST00000394701.4 + 6 776 c.735A>G c.(733-735)gtA>gtG p.V245V AIMP1_ENST00000358008.3_Silent_p.V221V|AIMP1_ENST00000442366.1_Silent_p.V221V NM_001142416.1 NP_001135888.1 Q12904 AIMP1_HUMAN aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 221 tRNA-binding. angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1) 11 TGAGGGGAGTATTATCTCAAG 0.388000 4 113 0 0 1 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39280324 39280324 + Silent SNP C C A TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr17:39280324C>A ENST00000394014.1 - 1 95 c.51G>T c.(49-51)ctG>ctT p.L17L NM_031854.2 NP_114060.1 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 17 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCAGTTCTCCAGGCCACAGC 0.637000 4 141 1 1 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141773335 141773335 + Missense_Mutation SNP T T C TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr2:141773335T>C ENST00000389484.3 - 13 3091 c.2120A>G c.(2119-2121)aAc>aGc p.N707S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 707 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTATAATGTGTTGGTGTGAAA 0.408000 TSP Lung(27;0.18) 6 61 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126683040 126683040 + Missense_Mutation SNP G G T TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr10:126683040G>T ENST00000309035.6 - 5 2528 c.2398C>A c.(2398-2400)Cag>Aag p.Q800K CTBP2_ENST00000494626.2_Missense_Mutation_p.Q260K|CTBP2_ENST00000531469.1_Missense_Mutation_p.Q260K|CTBP2_ENST00000411419.2_Missense_Mutation_p.Q260K|CTBP2_ENST00000337195.5_Missense_Mutation_p.Q260K|CTBP2_ENST00000334808.6_Missense_Mutation_p.Q328K NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 260 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CAAATTACCTGCTTTATGGTA 0.488000 3 31 0.115264 0.125144 1 1 0 CORO7 79585 broad.mit.edu 37 16 4462417 4462417 + Translation_Start_Site SNP C C T TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr16:4462417C>T ENST00000539968.1 - 0 294 CORO7_ENST00000577144.1_5'UTR|CORO7_ENST00000574025.1_Missense_Mutation_p.V58M|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000537233.2_Missense_Mutation_p.V58M|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.V58M|CORO7_ENST00000251166.4_Missense_Mutation_p.V58M coronin 7 breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23 TGCAGAGGCACAATGCCCAGT 0.587000 5 91 0 0 1 0 0 ESR1 2099 broad.mit.edu 37 6 152415668 152415668 + Silent SNP G G A TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr6:152415668G>A ENST00000440973.1 + 9 1888 c.1518G>A c.(1516-1518)caG>caA p.Q506Q ESR1_ENST00000206249.3_Silent_p.Q506Q|ESR1_ENST00000443427.1_Silent_p.Q506Q|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000406599.1_Silent_p.Q245Q|ESR1_ENST00000338799.5_Silent_p.Q506Q|ESR1_ENST00000456483.2_Silent_p.Q394Q NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 506 Interaction with AKAP13.|Steroid-binding. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) GGCTGGCCCAGCTCCTCCTCA 0.562000 10 39 0 0 1 0 0 NUDT17 200035 broad.mit.edu 37 1 145586928 145586928 + Missense_Mutation SNP C C T TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr1:145586928C>T ENST00000334513.5 - 7 771 c.760G>A c.(760-762)Gcc>Acc p.A254T NM_001012758.2 NP_001012776.1 P0C025 NUD17_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 17 254 hydrolase activity|metal ion binding endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2) 9 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGAGGTCGGGCTCTTCCATCC 0.527000 45 81 0 0 1 0 0 PPT2-EGFL8 0 broad.mit.edu 37 6 32122382 32122382 + Missense_Mutation SNP T T G TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr6:32122382T>G ENST00000422437.1 + 2 202 c.11T>G c.(10-12)cTc>cGc p.L4R PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000361568.2_Missense_Mutation_p.L10R|PPT2_ENST00000324816.6_Missense_Mutation_p.L4R|PPT2_ENST00000375137.2_Missense_Mutation_p.L4R|PPT2_ENST00000395523.1_Missense_Mutation_p.L4R|PPT2_ENST00000375143.2_Missense_Mutation_p.L4R|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000445576.2_Missense_Mutation_p.L4R|PPT2_ENST00000437001.2_5'UTR ATGCTGGGGCTCTGCGGGCAG 0.677000 89 153 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48697526 48697526 + Missense_Mutation SNP T T A TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr3:48697526T>A ENST00000544264.1 - 1 2822 c.2542A>T c.(2542-2544)Atc>Ttc p.I848F CELSR3_ENST00000164024.4_Missense_Mutation_p.I848F Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 848 Cadherin 5. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCATCTGTGATGTTGATGTGC 0.507000 6 114 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41792173 41792173 + Missense_Mutation SNP T T A TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr8:41792173T>A ENST00000396930.3 - 18 4108 c.3565A>T c.(3565-3567)Att>Ttt p.I1189F KAT6A_ENST00000265713.2_Missense_Mutation_p.I1189F|KAT6A_ENST00000406337.1_Missense_Mutation_p.I1189F NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1189 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ATGGGCTCAATGACGCATGCT 0.478000 34 76 0 0 1 0 0 BPIFA1 51297 broad.mit.edu 37 20 31825610 31825610 + Silent SNP C C A TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr20:31825610C>A ENST00000354297.4 + 2 164 c.93C>A c.(91-93)acC>acA p.T31T BPIFA1_ENST00000375422.2_Silent_p.T31T|BPIFA1_ENST00000375413.4_Silent_p.T31T NM_130852.2 NP_570913.1 Q9NP55 PLUNC_HUMAN BPI fold containing family A, member 1 31 innate immune response extracellular region lipid binding TGGACCAGACCCTGCCCTTGA 0.557000 4 78 0.00909568 0.0101658 1 1 0 DNAH17 8632 broad.mit.edu 37 17 76457692 76457692 + Silent SNP G G C TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr17:76457692G>C ENST00000389840.5 - 58 9355 c.9231C>G c.(9229-9231)gcC>gcG p.A3077A DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.A3086A dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGACCTTCTCGGCCTCGATGC 0.537000 7 11 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A A G rs146821851 TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr18:9886894A>G ENST00000306084.6 + 2 617 c.418A>G c.(418-420)Aaa>Gaa p.K140E TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 140 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 p.K140E(2)|p.K73E(2) 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 GTCCTCAGAAAAAGCCATCCA 0.547000 4 155 0 0 1 0 0 EXD3 54932 broad.mit.edu 37 9 140247218 140247218 + Silent SNP C C A TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr9:140247218C>A ENST00000340951.4 - 11 1086 c.891G>T c.(889-891)ccG>ccT p.P297P EXD3_ENST00000342129.4_5'UTR NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 297 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 CCTGAAGCCACGGGCTCTGCC 0.677000 4 5 1 1 1 1 0 DMC1 11144 broad.mit.edu 37 22 38945974 38945974 + Silent SNP G G T TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr22:38945974G>T ENST00000216024.2 - 8 726 c.450C>A c.(448-450)ggC>ggA p.G150G DMC1_ENST00000428462.2_Intron NM_007068.2 NP_008999.2 Q14565 DMC1_HUMAN DNA meiotic recombinase 1 150 G -> D (in dbSNP:rs58396845). reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) CTCCTGGGTAGCCACCAGCTC 0.318000 Homologous recombination 8 13 1.76689e-08 2.0346e-08 1 1 0 ANKRD36 375248 broad.mit.edu 37 2 97867947 97867947 + Missense_Mutation SNP C C G rs10203570 by1000genomes TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr2:97867947C>G ENST00000420699.2 + 47 3110 c.2866C>G c.(2866-2868)Cag>Gag p.Q956E ANKRD36_ENST00000461153.2_Missense_Mutation_p.Q956E NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 956 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 AGTGTCTTCTCAGAAACCACC 0.343000 3 38 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 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 25 46 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 3 21 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 40 0 0 1 0 0 EGFL8 80864 broad.mit.edu 37 6 32134984 32134984 + Missense_Mutation SNP T T C TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr6:32134984T>C ENST00000395512.1 + 6 656 c.551T>C c.(550-552)aTg>aCg p.M184T PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.M184T Q99944 EGFL8_HUMAN EGF-like-domain, multiple 8 184 EGF-like 2; calcium-binding (Potential). extracellular region|integral to membrane calcium ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 10 CGCACCTGCATGGAGGGGTCC 0.662000 23 44 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69279639 69279639 + Missense_Mutation SNP C C T TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr12:69279639C>T ENST00000551568.1 - 3 251 c.191G>A c.(190-192)cGg>cAg p.R64Q CPM_ENST00000546373.1_Missense_Mutation_p.R64Q|CPM_ENST00000338356.3_Missense_Mutation_p.R64Q NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 64 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) CTTTGGAAACCGCCCCACAAC 0.398000 41 66 0 0 1 0 0 CDK19 23097 broad.mit.edu 37 6 110935828 110935828 + Silent SNP T T C TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr6:110935828T>C ENST00000368911.3 - 13 1598 c.1419A>G c.(1417-1419)ggA>ggG p.G473G CDK19_ENST00000323817.3_Silent_p.G413G|CDK19_ENST00000413605.2_Silent_p.G349G NM_015076.3 NP_055891.1 Q9BWU1 CDK19_HUMAN cyclin-dependent kinase 19 473 Ser-rich. ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 ACTGAGAGGATCCCTGAACGC 0.537000 25 50 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97427918 97427918 + Frame_Shift_Del DEL C C - TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr2:97427918delC ENST00000377075.2 + 1 1280 c.1182delC c.(1180-1182)ttfs p.F394fs NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 394 CBS 1. biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 TCCTGGACTTCAACACCATGT 0.502 25 44 --- --- --- --- MAFK 7975 broad.mit.edu 37 7 1579674 1579674 + Frame_Shift_Del DEL C C - TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr7:1579674delC ENST00000343242.4 + 3 363 c.134delC c.(133-135)acfs p.T45fs NM_002360.3 NP_002351.1 O60675 MAFK_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K 45 blood coagulation nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15) CGGGGTCTCACCAAGGAGGAG 0.662 2 4 --- --- --- --- PMS2P4 0 broad.mit.edu 37 7 66762433 66762433 + RNA DEL A A - rs68053451 TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr7:66762433delA ENST00000414507.1 - 0 184 tctcaaaaagaaaaaaaaaaa 0.408 6 2 --- --- --- --- STEAP2-AS1 0 broad.mit.edu 37 7 89748927 89748928 + RNA INS - - C rs138239781 by1000genomes TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr7:89748927_89748928insC ENST00000478318.2 - 0 424 RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA GGTGCGGGCCTCCCCCTTCCCC 0.639 6 3 --- --- --- --- RGP1 9827 broad.mit.edu 37 9 35752094 35752103 + Frame_Shift_Del DEL TCCCTCCCAA TCCCTCCCAA - TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr9:35752094_35752103delTCCCTCCCAA ENST00000378078.4 + 8 1045_1054 c.904_913delTCCCTCCCAA c.(904-915)tcfs p.SLPI302fs RGP1_ENST00000456972.2_Frame_Shift_Del_p.SLPI342fs NM_001080496.2 NP_001073965.2 Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog (S. cerevisiae) 302 cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AACCAGCTTCTCCCTCCCAATCCCTCTCAG 0.581 11 18 --- --- --- --- HHIPL1 84439 broad.mit.edu 37 14 100125953 100125953 + Frame_Shift_Del DEL G G - TCGA-DJ-A3V0-01A-11D-A22Z-08 TCGA-DJ-A3V0-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf3b3dca-841d-4f4e-982b-596821aea371 a11340d0-5dc6-4bbe-a1ef-d48afe313e52 g.chr14:100125953delG ENST00000330710.5 + 4 1333 c.1235delG c.(1234-1236)ccfs p.R412fs HHIPL1_ENST00000357223.2_Frame_Shift_Del_p.R412fs NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 412 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) GGCACTGGCCGCGGGCGCCTC 0.726 2 4 --- --- --- ---