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 WDR16 146845 broad.mit.edu 37 17 9503430 9503430 + Missense_Mutation SNP A A C TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr17:9503430A>C ENST00000352665.5 + 6 752 c.683A>C c.(682-684)gAt>gCt p.D228A WDR16_ENST00000299764.5_Missense_Mutation_p.D238A|WDR16_ENST00000396219.3_Missense_Mutation_p.D160A NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 228 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 ACGACTGGAGATATTCTAAAA 0.488000 143 200 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105178345 105178345 + Missense_Mutation SNP A A G TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr10:105178345A>G ENST00000369797.3 + 15 2154 c.2060A>G c.(2059-2061)gAc>gGc p.D687G NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 687 S1 motif 7. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CAGGCAGGTGACATCCTTCAC 0.582000 53 70 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20769226 20769226 + Silent SNP C C A TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr12:20769226C>A ENST00000359062.3 + 4 1372 c.1332C>A c.(1330-1332)acC>acA p.T444T PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 444 Poly-Thr. lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GGACCACCACCACCTCGGCCA 0.532000 4 126 0.217242 0.217242 1 1 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 5 142 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155508066 155508066 + Missense_Mutation SNP T T C TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr4:155508066T>C ENST00000302053.3 - 5 593 c.515A>G c.(514-516)gAc>gGc p.D172G FGA_ENST00000403106.3_Missense_Mutation_p.D172G NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 172 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) AATATCAATGTCCACCTAGAG 0.388000 31 62 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208390748 208390748 + Missense_Mutation SNP G G A TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr1:208390748G>A ENST00000367033.3 - 2 1277 c.520C>T c.(520-522)Cgc>Tgc p.R174C NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 174 Sema. axon guidance integral to membrane|intracellular|plasma membrane p.R174C(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) CCCTCAGAGCGCACAATCACC 0.602000 6 311 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856761 53856761 + Missense_Mutation SNP T T C TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr19:53856761T>C ENST00000458035.1 + 4 2950 c.2833T>C c.(2833-2835)Tgt>Cgt p.C945R ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 945 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C945R(1) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ACCTTACAAGTGTAATGAATG 0.348000 4 78 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 5 62 0 0 1 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28599954 28599954 + RNA SNP A A G rs144345425 by1000genomes TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr15:28599954A>G ENST00000568624.1 - 0 452 GGCTGTAGTAAAGTGCCATCT 0.478000 5 111 0 0 1 0 0 CTAGE1 64693 broad.mit.edu 37 18 19997008 19997008 + Missense_Mutation SNP G G A TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr18:19997008G>A ENST00000391403.2 - 1 870 c.767C>T c.(766-768)aCg>aTg p.T256M NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 256 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) ATCATCATCCGTTACATCTTC 0.373000 12 191 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 5 68 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 7 423 0 0 1 0 0 IRAK1 3654 broad.mit.edu 37 X 153282062 153282062 + Silent SNP G G A TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chrX:153282062G>A ENST00000369980.3 - 9 1229 c.1062C>T c.(1060-1062)ccC>ccT p.P354P IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000429936.2_Silent_p.P380P|IRAK1_ENST00000393682.1_Silent_p.P380P|IRAK1_ENST00000393687.2_Silent_p.P354P|IRAK1_ENST00000369974.2_Silent_p.P354P NM_001025242.1|NM_001569.3 NP_001020413.1|NP_001560.2 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 354 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTCCCAGCTTGGGTGTCAGCC 0.642000 24 42 0 0 1 0 0 DCBLD1 285761 broad.mit.edu 37 6 117861894 117861894 + Missense_Mutation SNP G G A TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr6:117861894G>A ENST00000338728.5 + 10 1285 c.1165G>A c.(1165-1167)Gcc>Acc p.A389T DCBLD1_ENST00000534777.1_3'UTR|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.A389T|DCBLD1_ENST00000368503.4_Intron Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 389 F5/8 type C. cell adhesion integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) TCCCATCGTGGCCAGATATGT 0.473000 38 117 0 0 1 0 0 ART1 417 broad.mit.edu 37 11 3680945 3680945 + Missense_Mutation SNP C C T TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr11:3680945C>T ENST00000250693.1 + 3 297 c.196C>T c.(196-198)Cac>Tac p.H66Y NM_004314.2 NP_004305.2 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 66 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1) 8 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) GGATCTCAACCACACGGAGTT 0.592000 11 37 0 0 1 0 0 MRPL50 54534 broad.mit.edu 37 9 104152867 104152867 + Missense_Mutation SNP T T C TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr9:104152867T>C ENST00000374865.4 - 2 379 c.358A>G c.(358-360)Atg>Gtg p.M120V MRPL50_ENST00000539624.1_Missense_Mutation_p.M120V NM_019051.2 NP_061924.1 Q8N5N7 RM50_HUMAN mitochondrial ribosomal protein L50 120 mitochondrion|ribosome large_intestine(1)|lung(2)|prostate(2) 5 Acute lymphoblastic leukemia(62;0.0559) ACCCTGCACATCTGGTGGAGT 0.423000 49 111 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073284 17073284 + Missense_Mutation SNP G G A TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr22:17073284G>A ENST00000359963.3 - 1 416 c.157C>T c.(157-159)Ccc>Tcc p.P53S NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 53 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CGGCCGTGGGGGCCATAGCAA 0.642000 63 80 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 60 81 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 38 7 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38748793 38748793 + Missense_Mutation SNP G G T TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr3:38748793G>T ENST00000449082.2 - 25 4362 c.4363C>A c.(4363-4365)Cag>Aag p.Q1455K NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1455 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ATGGGCTTCTGGGGCTTCTTG 0.557000 16 60 8.00594e-06 8.27733e-06 1 1 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 4 75 0 0 1 0 0 HTRA2 27429 broad.mit.edu 37 2 74757848 74757848 + Missense_Mutation SNP G G A TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr2:74757848G>A ENST00000258080.3 + 2 1241 c.611G>A c.(610-612)cGc>cAc p.R204H HTRA2_ENST00000352222.3_Missense_Mutation_p.R204H|HTRA2_ENST00000467961.1_3'UTR NM_013247.4 NP_037379.1 O43464 HTRA2_HUMAN HtrA serine peptidase 2 204 Serine protease. apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 GCTGATCGGCGCAGAGTCCGT 0.602000 4 113 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45216210 45216210 + Silent SNP A A C rs62075659 TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr17:45216210A>C ENST00000066544.3 - 13 1692 c.1599T>G c.(1597-1599)gtT>gtG p.V533V CDC27_ENST00000527547.1_Silent_p.V532V|CDC27_ENST00000446365.2_Silent_p.V472V|CDC27_ENST00000531206.1_Silent_p.V539V NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 533 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|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 K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding p.V533V(1)|p.V539V(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CCATGCCTTCAACTCTATAAT 0.318000 4 85 0 0 1 0 0 ZNF280C 55609 broad.mit.edu 37 X 129370584 129370584 + Missense_Mutation SNP G G A TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chrX:129370584G>A ENST00000370978.4 - 7 676 c.523C>T c.(523-525)Cat>Tat p.H175Y NM_017666.4 NP_060136.1 Q8ND82 Z280C_HUMAN zinc finger protein 280C 175 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 GTAGAAGGATGTTTCAACACA 0.308000 44 68 0 0 1 0 0 CNKSR3 154043 broad.mit.edu 37 6 154743663 154743663 + Missense_Mutation SNP G G A TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr6:154743663G>A ENST00000607772.1 - 9 1466 c.922C>T c.(922-924)Cgg>Tgg p.R308W CNKSR3_ENST00000433165.2_Missense_Mutation_p.R133W|CNKSR3_ENST00000479339.1_Missense_Mutation_p.R228W NM_173515.2 NP_775786.2 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 308 negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) GGCTTCCACCGTAGGTTTTTC 0.443000 5 177 0 0 1 0 0 FCHO2 115548 broad.mit.edu 37 5 72383519 72383519 + Silent SNP A A G TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr5:72383519A>G ENST00000430046.2 + 25 2465 c.2349A>G c.(2347-2349)gtA>gtG p.V783V FCHO2_ENST00000512348.1_Silent_p.V750V|FCHO2_ENST00000341845.6_Silent_p.V783V NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 783 cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) TTTCAGGAGTAGATTTCGAAC 0.438000 43 124 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112777033 112777033 + Missense_Mutation SNP C C T TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr2:112777033C>T ENST00000295408.4 + 16 2380 c.2123C>T c.(2122-2124)gCc>gTc p.A708V MERTK_ENST00000421804.2_Missense_Mutation_p.A708V|MERTK_ENST00000409780.1_Missense_Mutation_p.A532V Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 708 Protein kinase. A -> S (in a head & Neck squamous cell carcinoma sample; somatic mutation). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GTGGATATTGCCCTGGGAATG 0.413000 5 285 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42930686 42930686 + Missense_Mutation SNP A A G TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr19:42930686A>G ENST00000244289.4 - 1 892 c.616T>C c.(616-618)Ttt>Ctt p.F206L LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 206 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) TTTGTTAGAAATCCCAGCTCT 0.488000 50 64 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 88 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131353798 131353798 + Missense_Mutation SNP C C T TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr9:131353798C>T ENST00000358161.5 + 22 3162 c.3049C>T c.(3049-3051)Ccg>Tcg p.P1017S SPTAN1_ENST00000372731.4_Missense_Mutation_p.P1017S|SPTAN1_ENST00000372739.3_Missense_Mutation_p.P1017S Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1017 SH3. P -> S (in a breast cancer sample; somatic mutation). actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton p.P1017S(1) NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GGGTTTTGTGCCGGCTGCGTA 0.522000 5 231 0 0 1 0 0 IFNA21 3452 broad.mit.edu 37 9 21166307 21166307 + Missense_Mutation SNP T T C TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr9:21166307T>C ENST00000380225.1 - 1 352 c.305A>G c.(304-306)cAg>cGg p.Q102R NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 102 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TAGGAGGCTCTGTTCCCAAGT 0.498000 46 180 0 0 1 0 0 NINJ2 4815 broad.mit.edu 37 12 772646 772646 + Missense_Mutation SNP G G T TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr12:772646G>T ENST00000305108.4 - 1 299 c.19C>A c.(19-21)Cag>Aag p.Q7K RP11-218M22.1_ENST00000543884.1_RNA NM_016533.4 NP_057617.2 Q9NZG7 NINJ2_HUMAN ninjurin 2 0 nervous system development|neuron cell-cell adhesion|tissue regeneration integral to plasma membrane large_intestine(3)|lung(1)|ovary(2) 6 all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185) OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508) GCACACAGCTGGCGGGACAGA 0.627000 21 127 5.26018e-13 5.62931e-13 1 1 0 PIH1D3 139212 broad.mit.edu 37 X 106459933 106459933 + Silent SNP T T C TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chrX:106459933T>C ENST00000535523.1 + 4 523 c.186T>C c.(184-186)ggT>ggC p.G62G PIH1D3_ENST00000336387.4_Silent_p.G62G|PIH1D3_ENST00000372453.3_Silent_p.G62G NM_001169154.1 NP_001162625.1 PIH1 domain containing 3 GAGCCATGGGTCCTGGGAATA 0.333000 35 109 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47367798 47367798 + Silent SNP C C T TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr18:47367798C>T ENST00000285039.7 - 35 4937 c.4638G>A c.(4636-4638)acG>acA p.T1546T SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.T661T|MYO5B_ENST00000592688.1_Silent_p.T116T NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1546 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) ACCAGAATGACGTCATCTCAA 0.522000 83 155 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66102486 66102486 + Missense_Mutation SNP G G A TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr1:66102486G>A ENST00000349533.6 + 20 3471 c.3286G>A c.(3286-3288)Gac>Aac p.D1096N LEPR_ENST00000406510.3_Missense_Mutation_p.D163N NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 1096 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GCTTTTGACTGACAAGTCAAG 0.403000 4 111 0 0 1 0 0 FAM3B 54097 broad.mit.edu 37 21 42694963 42694963 + Missense_Mutation SNP C C T TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr21:42694963C>T ENST00000398652.3 + 3 316 c.250C>T c.(250-252)Cgc>Tgc p.R84C FAM3B_ENST00000357985.2_Missense_Mutation_p.R45C|FAM3B_ENST00000398646.3_Missense_Mutation_p.R68C|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398647.3_Intron P58499 FAM3B_HUMAN family with sequence similarity 3, member B 45 apoptosis|insulin secretion extracellular space cytokine activity central_nervous_system(2)|endometrium(1)|lung(2) 5 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) CTATAGCATCCGCAGCATCGG 0.602000 36 74 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17023110 17023110 + RNA SNP G G A rs11260887 by1000genomes TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr1:17023110G>A ENST00000492551.1 - 0 1753 NR_026567.1 GTTGAGCAGCGGCTGAAACCC 0.687000 4 31 0 0 1 0 0 CBLN2 147381 broad.mit.edu 37 18 70205466 70205466 + Missense_Mutation SNP A A T TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr18:70205466A>T ENST00000269503.4 - 5 1393 c.620T>A c.(619-621)cTc>cAc p.L207H CBLN2_ENST00000581073.1_Missense_Mutation_p.L93H|CBLN2_ENST00000584764.1_Missense_Mutation_p.L91H|CBLN2_ENST00000585159.1_Missense_Mutation_p.L207H|CBLN2_ENST00000583651.1_5'UTR NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 207 C1q. integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) GCCCCCCATGAGGTTGCCTCT 0.532000 93 107 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115898356 115898356 + Missense_Mutation SNP C C G TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr4:115898356C>G ENST00000264363.2 - 3 1731 c.1053G>C c.(1051-1053)aaG>aaC p.K351N NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 351 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TGTGGTAAAACTTCCCTGAAA 0.343000 78 141 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100190781 100190781 + Nonsense_Mutation SNP C C T TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr9:100190781C>T ENST00000355295.4 + 2 329 c.34C>T c.(34-36)Cga>Tga p.R12* TDRD7_ENST00000422139.2_Intron NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 12 Lotus/OST-HTH 1. lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) AAAGATGCTACGAGCTGTTCT 0.438000 32 61 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 9 34 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3692311 3692311 + Missense_Mutation SNP G G A TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr12:3692311G>A ENST00000382622.3 + 8 1306 c.916G>A c.(916-918)Gcc>Acc p.A306T PRMT8_ENST00000452611.2_Missense_Mutation_p.A297T|PRMT8_ENST00000261252.4_3'UTR NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 306 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity p.A306T(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CTACGTCCACGCCCTGGTCAC 0.498000 11 54 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153236222 153236222 + Missense_Mutation SNP C C A TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chrX:153236222C>A ENST00000310441.7 - 1 1036 c.70G>T c.(70-72)Ggc>Tgc p.G24C HCFC1_ENST00000354233.3_Missense_Mutation_p.G24C|HCFC1_ENST00000369984.4_Missense_Mutation_p.G24C NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 24 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCGACCAGCCCACCACTCGC 0.682000 11 20 1.08611e-07 1.14229e-07 1 1 0 ERC1 23085 broad.mit.edu 37 12 1137520 1137520 + Missense_Mutation SNP A A G TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr12:1137520A>G ENST00000397203.2 + 2 857 c.451A>G c.(451-453)Atc>Gtc p.I151V ERC1_ENST00000355446.5_Missense_Mutation_p.I151V|ERC1_ENST00000546231.2_Missense_Mutation_p.I151V|ERC1_ENST00000360905.4_Missense_Mutation_p.I151V|ERC1_ENST00000543086.3_Missense_Mutation_p.I151V|ERC1_ENST00000589028.1_Missense_Mutation_p.I151V Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 151 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) AGATAACACAATCATGGATCT 0.458000 8 169 0 0 1 0 0 ADCK3 56997 broad.mit.edu 37 1 227152916 227152916 + Silent SNP C C T TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr1:227152916C>T ENST00000366779.1 + 8 3164 c.393C>T c.(391-393)ccC>ccT p.P131P ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366778.1_Silent_p.P79P|ADCK3_ENST00000366775.1_5'UTR|ADCK3_ENST00000366777.3_Silent_p.P131P|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366776.1_Silent_p.P56P Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 131 cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 CCGGGTTCCCCGGCCAGGCCT 0.652000 16 26 0 0 1 0 0 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr13:115047559C>T ENST00000375299.3 + 2 327 c.271C>T c.(271-273)Ctg>Ttg p.L91L UPF3A_ENST00000351487.5_Silent_p.L91L NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding p.L91L(8) autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731000 3 6 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61482567 61482567 + Missense_Mutation SNP G G A TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr17:61482567G>A ENST00000424789.2 + 18 3198 c.3194G>A c.(3193-3195)cGc>cAc p.R1065H AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1065H|RP11-269G24.3_ENST00000583552.1_RNA NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1065 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CAGCCAAACCGCCGAGGAGCA 0.617000 4 30 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248437112 248437112 + Frame_Shift_Del DEL T T - TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr1:248437112delT ENST00000318021.2 - 1 26 c.5delA c.(4-6)ggfs p.E2fs NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATTTCTCATCTCCATAATTTC 0.428 8 155 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284886 38284887 + RNA DEL GT GT - rs73692143 TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr7:38284886_38284887delGT ENST00000436911.2 - 0 330 ATTTGTCAAGgtgtgtgtgtgt 0.391 9 214 --- --- --- --- STAG3L2 0 broad.mit.edu 37 7 74300804 74300804 + RNA DEL A A - TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr7:74300804delA ENST00000423186.1 - 0 499 P0CL84 ST3L2_HUMAN nucleus binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CTTCATACTTAAAAAAAAAAA 0.458 5 7 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 7 145 --- --- --- --- RP11-522N14.1 0 broad.mit.edu 37 12 124719475 124719483 + RNA DEL CACCACCAT CACCACCAT - TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr12:124719475_124719483delCACCACCAT ENST00000540762.1 + 0 444 tcaccaccaccaccaccatcaccaccatc 0.464 3 4 --- --- --- --- C17orf76-AS1 0 broad.mit.edu 37 17 16344167 16344167 + RNA DEL A A - rs10587316 TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr17:16344167delA ENST00000475953.1 + 0 483 C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA NR_027667.1 actccatctcaaaaaaaaaaa 0.413 5 8 --- --- --- --- PPAN-P2RY11 0 broad.mit.edu 37 19 10224393 10224395 + In_Frame_Del DEL TGG TGG - TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr19:10224393_10224395delTGG ENST00000428358.1 + 13 1598_1600 c.1426_1428delTGG c.(1426-1428)del p.W477del P2RY11_ENST00000471843.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_In_Frame_Del_p.LV455del|P2RY11_ENST00000321826.4_In_Frame_Del_p.LV35del|PPAN_ENST00000556468.1_In_Frame_Del_p.LV455del NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 Q9NQ55 SSF1_HUMAN 0 RNA splicing nucleolus protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) TGGCCCATACTGGTGGTTGAGTT 0.631 OREG0025230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 84 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 4 2 --- --- --- --- C21orf91 54149 broad.mit.edu 37 21 19190530 19190530 + Frame_Shift_Del DEL A A - TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr21:19190530delA ENST00000284881.4 - 2 196 c.106delT c.(106-108)gtfs p.C36fs C21orf91_ENST00000400558.3_Frame_Shift_Del_p.C36fs|C21orf91_ENST00000400559.3_Frame_Shift_Del_p.C36fs|C21orf91_ENST00000493464.1_5'UTR NM_001100420.1|NM_017447.3 NP_001093890.1|NP_059143.3 Q9NYK6 EURL_HUMAN chromosome 21 open reading frame 91 36 endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929) AGCTCAAAACAAATGTGGCAG 0.353 56 122 --- --- --- --- LA16c-23H5.4 0 broad.mit.edu 37 22 16419352 16419352 + RNA DEL T T - TCGA-S9-A7R3-01A-11D-A34J-08 TCGA-S9-A7R3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c66180f-e749-4b77-8f69-5ec01afae762 05a08903-42bb-4a25-a14e-9f0e3ce84fdb g.chr22:16419352delT ENST00000444162.1 + 0 279 GAATCGACGATTTTTTTTTTG 0.398 3 6 --- --- --- ---