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 RNF220 55182 broad.mit.edu 37 1 44878184 44878184 + Missense_Mutation SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr1:44878184G>A ENST00000355387.2 + 2 865 c.415G>A c.(415-417)Gcc>Acc p.A139T RNF220_ENST00000372247.2_Missense_Mutation_p.A139T|RNF220_ENST00000361799.2_Missense_Mutation_p.A139T Q5VTB9 RN220_HUMAN ring finger protein 220 139 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 CTTTACGCCGGCCAAGCGACT 0.547000 4 118 0 0 0.000248 0 0 DFFA 1676 broad.mit.edu 37 1 10523170 10523170 + Missense_Mutation SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr1:10523170G>A ENST00000377038.3 - 5 795 c.728C>T c.(727-729)aCt>aTt p.T243I DFFA_ENST00000377036.2_Missense_Mutation_p.T243I NM_004401.2 NP_004392.1 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha polypeptide 243 DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding large_intestine(3)|lung(2) 5 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) CCTCAGTGCAGTAAGGATGTG 0.577000 4 75 0 0 0.001168 0 0 TCF21 0 broad.mit.edu 37 6 134212927 134212927 + Missense_Mutation SNP C C G TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr6:134212927C>G ENST00000367882.4 + 2 787 c.527C>G c.(526-528)aCc>aGc p.T176S RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.T176S NM_003206.3 NP_003197.2 O43680 TCF21_HUMAN transcription factor 21 176 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) TTATGTGGAACCACCGCGTCC 0.657000 5 41 0 0 0.001168 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29972719 29972719 + Missense_Mutation SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chrX:29972719C>T ENST00000378993.1 + 10 1955 c.1282C>T c.(1282-1284)Cgt>Tgt p.R428C IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R428C NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 428 TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 GGAAGAAGAACGTTTTGCCCT 0.353000 23 21 0 0 0.003954 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789258 6789258 + Silent SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr11:6789258G>A ENST00000338569.2 - 1 1028 c.931C>T c.(931-933)Ctg>Ttg p.L311L NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GAATGTGCCAGCAGTATGTAT 0.483000 3 79 0 0 0.004672 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95705500 95705500 + Silent SNP T T C TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr7:95705500T>C ENST00000324972.6 + 15 1885 c.1692T>C c.(1690-1692)aaT>aaC p.N564N DYNC1I1_ENST00000537881.1_Silent_p.N527N|DYNC1I1_ENST00000457059.1_Silent_p.N547N|DYNC1I1_ENST00000359388.4_Silent_p.N527N|DYNC1I1_ENST00000447467.2_Silent_p.N547N|DYNC1I1_ENST00000437599.1_Silent_p.N544N NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 564 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) ACCTCAACAATGACACCGAGG 0.642000 OREG0018174 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 20 0 0 0.000978 0 0 NKIRAS2 28511 broad.mit.edu 37 17 40175835 40175835 + Missense_Mutation SNP A A G TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr17:40175835A>G ENST00000307641.5 + 4 1121 c.500A>G c.(499-501)aAg>aGg p.K167R NKIRAS2_ENST00000393884.2_Missense_Mutation_p.K165R|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.K167R|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.K205R|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.K167R|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.K167R|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.K111R NM_001001349.2 NP_001001349.1 Q9NYR9 KBRS2_HUMAN NFKB inhibitor interacting Ras-like 2 167 Small GTPase-like. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 9 all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319) TTGGCCAGCAAGATGACGCAA 0.612000 5 71 0 0 0.000602 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 5 73 0 0 0.000602 0 0 UBE2O 63893 broad.mit.edu 37 17 74396560 74396560 + Silent SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr17:74396560G>A ENST00000319380.7 - 7 1030 c.966C>T c.(964-966)agC>agT p.S322S NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 322 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 AGGGTGGGGGGCTGACGCTGT 0.607000 7 35 0 0 0.006214 0 0 KCNK3 3777 broad.mit.edu 37 2 26950776 26950776 + Silent SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr2:26950776C>T ENST00000302909.3 + 2 650 c.525C>T c.(523-525)gcC>gcT p.A175A NM_002246.2 NP_002237.1 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 175 synaptic transmission integral to plasma membrane endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCATCGGCGCCGCCGCCTTCT 0.637000 7 37 0 0 0.003080 0 0 ABCC5 10057 broad.mit.edu 37 3 183667559 183667559 + Missense_Mutation SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr3:183667559C>T ENST00000334444.6 - 22 3449 c.3209G>A c.(3208-3210)gGg>gAg p.G1070E ABCC5_ENST00000265586.6_Intron NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 1070 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AAACTCCTGCCCTTTATTGTA 0.562000 11 35 0 0 0.001368 0 0 PCF11 51585 broad.mit.edu 37 11 82877716 82877716 + Missense_Mutation SNP T T A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr11:82877716T>A ENST00000298281.4 + 5 2229 c.1777T>A c.(1777-1779)Tct>Act p.S593T NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 593 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 AAGTTCCAAGTCTGCCAAAAG 0.363000 24 72 0 0 0.008361 0 0 TACC2 10579 broad.mit.edu 37 10 123843719 123843719 + Silent SNP A A T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr10:123843719A>T ENST00000369005.1 + 4 2044 c.1704A>T c.(1702-1704)ggA>ggT p.G568G TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.G568G|TACC2_ENST00000515273.1_Silent_p.G568G|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.G568G|TACC2_ENST00000334433.3_Silent_p.G568G NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 568 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTAAAGAAGGAAGCAGATCAC 0.592000 13 27 0 0 0.004007 0 0 HDAC9 9734 broad.mit.edu 37 7 18687446 18687446 + Silent SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr7:18687446G>A ENST00000406451.3 + 10 1215 c.1065G>A c.(1063-1065)acG>acA p.T355T HDAC9_ENST00000417496.2_Silent_p.T353T|HDAC9_ENST00000432645.2_Silent_p.T355T|HDAC9_ENST00000441542.2_Silent_p.T358T|HDAC9_ENST00000406072.1_Silent_p.T342T|HDAC9_ENST00000405010.3_Silent_p.T355T|HDAC9_ENST00000456174.2_Silent_p.T327T|HDAC9_ENST00000401921.1_Silent_p.T314T|HDAC9_ENST00000524023.1_Silent_p.T278T|HDAC9_ENST00000428307.2_Silent_p.T311T NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 355 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) AGTGTGAGACGCAGACGCTTA 0.493000 5 12 0 0 0.001168 0 0 FLT4 2324 broad.mit.edu 37 5 180057599 180057599 + Missense_Mutation SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr5:180057599C>T ENST00000261937.6 - 3 434 c.356G>A c.(355-357)cGc>cAc p.R119H FLT4_ENST00000393347.3_Missense_Mutation_p.R119H|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.R119H NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 119 Ig-like C2-type 1. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GCCCTCGATGCGTGCCTTGAT 0.637000 11 42 0 0 0.001855 0 0 PIK3R2 5296 broad.mit.edu 37 19 18277058 18277058 + Missense_Mutation SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr19:18277058G>A ENST00000593731.1 + 12 2065 c.1505G>A c.(1504-1506)aGc>aAc p.S502N PIK3R2_ENST00000222254.7_Missense_Mutation_p.S502N O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) 502 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 GAGAAATGCAGCAAGGAATAC 0.562000 3 49 0 0 0.004672 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39412068 39412068 + Missense_Mutation SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr17:39412068G>A ENST00000394008.1 + 1 433 c.431G>A c.(430-432)tGc>tAc p.C144Y NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 144 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CGCCCCGCCTGCTGTGAGACC 0.612000 7 251 0 0 0.001984 0 0 ASXL1 171023 broad.mit.edu 37 20 31024752 31024752 + Missense_Mutation SNP T T G TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr20:31024752T>G ENST00000375687.4 + 13 4661 c.4237T>G c.(4237-4239)Tta>Gta p.L1413V ASXL1_ENST00000306058.5_Missense_Mutation_p.L1408V NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 1413 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CTTCTGGAAATTACCCCGAGA 0.542000 """F, N, Mis""" """MDS, CMML""" 3 162 0 0 0.000248 0 0 KCNB2 9312 broad.mit.edu 37 8 73849007 73849007 + Missense_Mutation SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr8:73849007G>A ENST00000523207.1 + 3 2005 c.1417G>A c.(1417-1419)Gga>Aga p.G473R NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 473 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TGAGAAGGCCGGAGAGTCCGC 0.527000 28 102 0 0 0.008361 0 0 EPG5 57724 broad.mit.edu 37 18 43497668 43497668 + Missense_Mutation SNP T T C TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr18:43497668T>C ENST00000282041.5 - 17 3249 c.3215A>G c.(3214-3216)cAg>cGg p.Q1072R NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1072 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 AAGGTAATACTGGCAAGGGTA 0.428000 45 126 0 0 0.003610 0 0 TRIP10 9322 broad.mit.edu 37 19 6750305 6750305 + Silent SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr19:6750305G>A ENST00000600428.1 + 12 1552 c.906G>A c.(904-906)gcG>gcA p.A302A TRIP10_ENST00000596758.1_Silent_p.A410A|TRIP10_ENST00000313285.8_Silent_p.A410A|TRIP10_ENST00000313244.9_Silent_p.A466A|CTD-3128G10.6_ENST00000594056.1_RNA Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 466 Interaction with CDC42.|Interaction with PDE6G (By similarity). actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 16 CCTCCCAGGCGTGGCTGGCAG 0.667000 30 145 0 0 0.004878 0 0 LRP6 4040 broad.mit.edu 37 12 12397551 12397551 + Silent SNP G G T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr12:12397551G>T ENST00000261349.4 - 2 170 c.94C>A c.(94-96)Cga>Aga p.R32R LRP6_ENST00000543091.1_Silent_p.R32R NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 32 Beta-propeller 1. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding p.R32*(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) TCAACCAATCGCAAGTCCCGT 0.413000 11 44 0.00244969 0.00353845 0.002450 1 0 BICD2 23299 broad.mit.edu 37 9 95477650 95477650 + Missense_Mutation SNP G G C TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr9:95477650G>C ENST00000356884.6 - 7 2421 c.2354C>G c.(2353-2355)gCc>gGc p.A785G BICD2_ENST00000375512.3_Missense_Mutation_p.A785G NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 785 Interacts with RAB6A (By similarity). microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CTGCTGGATGGCCATGCGCAG 0.637000 13 16 0 0 0.001368 0 0 ZNF846 162993 broad.mit.edu 37 19 9868372 9868372 + Missense_Mutation SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr19:9868372G>A ENST00000397902.2 - 6 1794 c.1381C>T c.(1381-1383)Cgt>Tgt p.R461C ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 461 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 TTTGTGGAACGAGCAAATGCT 0.433000 13 62 0 0 0.001855 0 0 KDM6A 7403 broad.mit.edu 37 X 44969495 44969495 + Splice_Site SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chrX:44969495G>A ENST00000377967.4 + 28 4217 c.e28+1 KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 ATTTACATTAGTAAGTCAAAT 0.378000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 28 33 0 0 0.003271 0 0 BPTF 2186 broad.mit.edu 37 17 65942002 65942002 + Missense_Mutation SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr17:65942002C>T ENST00000321892.4 + 23 7617 c.7556C>T c.(7555-7557)tCa>tTa p.S2519L BPTF_ENST00000306378.6_Missense_Mutation_p.S2393L|BPTF_ENST00000424123.3_Missense_Mutation_p.S2380L|BPTF_ENST00000335221.5_Missense_Mutation_p.S2519L Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2519 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CAGCCACAGTCACAACCCCAG 0.453000 5 88 0 0 0.001168 0 0 EMILIN3 90187 broad.mit.edu 37 20 39991280 39991280 + Missense_Mutation SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr20:39991280C>T ENST00000332312.3 - 4 1121 c.929G>A c.(928-930)cGa>cAa p.R310Q NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 310 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) CCCCCAGAGTCGGTGCAGCCG 0.667000 3 19 0 0 0.000248 0 0 ADAM18 8749 broad.mit.edu 37 8 39525629 39525629 + Missense_Mutation SNP G G T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr8:39525629G>T ENST00000265707.5 + 14 1484 c.1439G>T c.(1438-1440)gGc>gTc p.G480V ADAM18_ENST00000379866.1_Missense_Mutation_p.G456V|ADAM18_ENST00000541111.1_5'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 480 Cys-rich. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) GCATTGAATGGCCGTTTGTGC 0.408000 52 203 2.40265e-35 3.67464e-35 0.003610 1 0 SCN9A 6335 broad.mit.edu 37 2 167089856 167089856 + Silent SNP T T A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr2:167089856T>A ENST00000303354.6 - 21 4261 c.3921A>T c.(3919-3921)ggA>ggT p.G1307G SCN9A_ENST00000409672.1_Silent_p.G1295G|SCN9A_ENST00000409435.1_Silent_p.G1306G|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.G1307G Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1306 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TTACCCTCATTCCTTCAAATC 0.343000 4 8 0 0 0.000248 0 0 ADAM18 8749 broad.mit.edu 37 8 39525630 39525630 + Silent SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr8:39525630C>T ENST00000265707.5 + 14 1485 c.1440C>T c.(1438-1440)ggC>ggT p.G480G ADAM18_ENST00000379866.1_Silent_p.G456G|ADAM18_ENST00000541111.1_5'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 480 Cys-rich. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CATTGAATGGCCGTTTGTGCA 0.403000 55 201 0 0 0.003610 0 0 GPKOW 27238 broad.mit.edu 37 X 48973489 48973489 + Missense_Mutation SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chrX:48973489G>A ENST00000156109.5 - 6 886 c.808C>T c.(808-810)Cgg>Tgg p.R270W NM_015698.4 NP_056513.2 Q92917 GPKOW_HUMAN G patch domain and KOW motifs 270 nucleus nucleic acid binding breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2) 21 ACCATGGCCCGAACATTGTCA 0.547000 16 45 0 0 0.008871 0 0 ZNF761 388561 broad.mit.edu 37 19 53958820 53958820 + RNA SNP T T C TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr19:53958820T>C ENST00000454407.1 + 0 1512 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GAGAGAAACCTTACAAGTGTA 0.408000 4 241 0 0 0.000602 0 0 RNF220 55182 broad.mit.edu 37 1 44878184 44878184 + Missense_Mutation SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr1:44878184G>A ENST00000355387.2 + 2 865 c.415G>A c.(415-417)Gcc>Acc p.A139T RNF220_ENST00000361799.2_Missense_Mutation_p.A139T|RNF220_ENST00000372247.2_Missense_Mutation_p.A139T Q5VTB9 RN220_HUMAN ring finger protein 220 139 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 CTTTACGCCGGCCAAGCGACT 0.547000 4 118 0 0 0.000248 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 7 214 0 0 0.003080 0 0 DFFA 1676 broad.mit.edu 37 1 10523170 10523170 + Missense_Mutation SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr1:10523170G>A ENST00000377038.3 - 5 795 c.728C>T c.(727-729)aCt>aTt p.T243I DFFA_ENST00000377036.2_Missense_Mutation_p.T243I NM_004401.2 NP_004392.1 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha polypeptide 243 DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding large_intestine(3)|lung(2) 5 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) CCTCAGTGCAGTAAGGATGTG 0.577000 4 75 0 0 0.001168 0 0 TCF21 0 broad.mit.edu 37 6 134212927 134212927 + Missense_Mutation SNP C C G TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr6:134212927C>G ENST00000367882.4 + 2 787 c.527C>G c.(526-528)aCc>aGc p.T176S RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.T176S NM_003206.3 NP_003197.2 O43680 TCF21_HUMAN transcription factor 21 176 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) TTATGTGGAACCACCGCGTCC 0.657000 5 41 0 0 0.001168 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29972719 29972719 + Missense_Mutation SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chrX:29972719C>T ENST00000378993.1 + 10 1955 c.1282C>T c.(1282-1284)Cgt>Tgt p.R428C IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R428C NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 428 TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 GGAAGAAGAACGTTTTGCCCT 0.353000 23 21 0 0 0.003954 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 4 74 0 0 0.003080 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789258 6789258 + Silent SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr11:6789258G>A ENST00000338569.2 - 1 1028 c.931C>T c.(931-933)Ctg>Ttg p.L311L NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GAATGTGCCAGCAGTATGTAT 0.483000 3 79 0 0 0.004672 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95705500 95705500 + Silent SNP T T C TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr7:95705500T>C ENST00000324972.6 + 15 1885 c.1692T>C c.(1690-1692)aaT>aaC p.N564N DYNC1I1_ENST00000437599.1_Silent_p.N544N|DYNC1I1_ENST00000447467.2_Silent_p.N547N|DYNC1I1_ENST00000537881.1_Silent_p.N527N|DYNC1I1_ENST00000359388.4_Silent_p.N527N|DYNC1I1_ENST00000457059.1_Silent_p.N547N NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 564 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) ACCTCAACAATGACACCGAGG 0.642000 OREG0018174 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 20 0 0 0.000978 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 3 17 0 0 0.004672 0 0 KCNK3 3777 broad.mit.edu 37 2 26950776 26950776 + Silent SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr2:26950776C>T ENST00000302909.3 + 2 650 c.525C>T c.(523-525)gcC>gcT p.A175A NM_002246.2 NP_002237.1 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 175 synaptic transmission integral to plasma membrane endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCATCGGCGCCGCCGCCTTCT 0.637000 7 37 0 0 0.003080 0 0 ABCC5 10057 broad.mit.edu 37 3 183667559 183667559 + Missense_Mutation SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr3:183667559C>T ENST00000334444.6 - 22 3449 c.3209G>A c.(3208-3210)gGg>gAg p.G1070E ABCC5_ENST00000265586.6_Intron NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 1070 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AAACTCCTGCCCTTTATTGTA 0.562000 11 35 0 0 0.001368 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205094 23205094 + RNA SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr15:23205094G>A ENST00000400153.2 - 0 760 NR_003521.1 AGTACTGGAAGAACGTGGTTG 0.373000 3 16 0 0 0.004672 0 0 PCF11 51585 broad.mit.edu 37 11 82877716 82877716 + Missense_Mutation SNP T T A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr11:82877716T>A ENST00000298281.4 + 5 2229 c.1777T>A c.(1777-1779)Tct>Act p.S593T NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 593 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 AAGTTCCAAGTCTGCCAAAAG 0.363000 24 72 0 0 0.008361 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72658255 72658255 + RNA SNP A A G rs2539089 TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr7:72658255A>G ENST00000425256.1 - 0 1656 NR_002164.1 tcagttttgtaacaagcccgt 0.488000 3 49 0 0 0.004672 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 4 150 0 0 0.000602 0 0 TACC2 10579 broad.mit.edu 37 10 123843719 123843719 + Silent SNP A A T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr10:123843719A>T ENST00000369005.1 + 4 2044 c.1704A>T c.(1702-1704)ggA>ggT p.G568G TACC2_ENST00000515603.1_Silent_p.G568G|TACC2_ENST00000453444.2_Silent_p.G568G|TACC2_ENST00000334433.3_Silent_p.G568G|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.G568G|TACC2_ENST00000513429.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 568 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTAAAGAAGGAAGCAGATCAC 0.592000 13 27 0 0 0.004007 0 0 UBE2O 63893 broad.mit.edu 37 17 74396560 74396560 + Silent SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr17:74396560G>A ENST00000319380.7 - 7 1030 c.966C>T c.(964-966)agC>agT p.S322S NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 322 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 AGGGTGGGGGGCTGACGCTGT 0.607000 7 35 0 0 0.006214 0 0 FLT4 2324 broad.mit.edu 37 5 180057599 180057599 + Missense_Mutation SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr5:180057599C>T ENST00000261937.6 - 3 434 c.356G>A c.(355-357)cGc>cAc p.R119H FLT4_ENST00000502649.1_Missense_Mutation_p.R119H|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.R119H NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 119 Ig-like C2-type 1. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GCCCTCGATGCGTGCCTTGAT 0.637000 11 42 0 0 0.001855 0 0 PIK3R2 5296 broad.mit.edu 37 19 18277058 18277058 + Missense_Mutation SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr19:18277058G>A ENST00000593731.1 + 12 2065 c.1505G>A c.(1504-1506)aGc>aAc p.S502N PIK3R2_ENST00000222254.7_Missense_Mutation_p.S502N O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) 502 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 GAGAAATGCAGCAAGGAATAC 0.562000 3 49 0 0 0.004672 0 0 NKIRAS2 28511 broad.mit.edu 37 17 40175835 40175835 + Missense_Mutation SNP A A G TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr17:40175835A>G ENST00000307641.5 + 4 1121 c.500A>G c.(499-501)aAg>aGg p.K167R NKIRAS2_ENST00000393881.3_Missense_Mutation_p.K167R|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.K111R|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.K165R|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.K167R|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.K205R NM_001001349.2 NP_001001349.1 Q9NYR9 KBRS2_HUMAN NFKB inhibitor interacting Ras-like 2 167 Small GTPase-like. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 9 all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319) TTGGCCAGCAAGATGACGCAA 0.612000 5 71 0 0 0.000602 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39412068 39412068 + Missense_Mutation SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr17:39412068G>A ENST00000394008.1 + 1 433 c.431G>A c.(430-432)tGc>tAc p.C144Y NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 144 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CGCCCCGCCTGCTGTGAGACC 0.612000 7 251 0 0 0.001984 0 0 ASXL1 171023 broad.mit.edu 37 20 31024752 31024752 + Missense_Mutation SNP T T G TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr20:31024752T>G ENST00000375687.4 + 13 4661 c.4237T>G c.(4237-4239)Tta>Gta p.L1413V ASXL1_ENST00000306058.5_Missense_Mutation_p.L1408V NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 1413 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CTTCTGGAAATTACCCCGAGA 0.542000 """F, N, Mis""" """MDS, CMML""" 3 162 0 0 0.000248 0 0 KCNB2 9312 broad.mit.edu 37 8 73849007 73849007 + Missense_Mutation SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr8:73849007G>A ENST00000523207.1 + 3 2005 c.1417G>A c.(1417-1419)Gga>Aga p.G473R NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 473 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TGAGAAGGCCGGAGAGTCCGC 0.527000 28 102 0 0 0.008361 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 3 53 0 0 0.000602 0 0 MT-ND5 4540 broad.mit.edu 37 MT 13118 13118 + Missense_Mutation SNP T T G TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chrM:13118T>G ENST00000361567.2 + 1 782 c.782T>G c.(781-783)aTc>aGc p.I261S P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 261 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CTTCTTACTCATCCGCTTCCA 0.532000 4 1 0 0 0.000248 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 7 216 0 0 0.001984 0 0 TRIP10 9322 broad.mit.edu 37 19 6750305 6750305 + Silent SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr19:6750305G>A ENST00000600428.1 + 12 1552 c.906G>A c.(904-906)gcG>gcA p.A302A TRIP10_ENST00000313285.8_Silent_p.A410A|TRIP10_ENST00000313244.9_Silent_p.A466A|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Silent_p.A410A Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 466 Interaction with CDC42.|Interaction with PDE6G (By similarity). actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 16 CCTCCCAGGCGTGGCTGGCAG 0.667000 30 145 0 0 0.004878 0 0 LRP6 4040 broad.mit.edu 37 12 12397551 12397551 + Silent SNP G G T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr12:12397551G>T ENST00000261349.4 - 2 170 c.94C>A c.(94-96)Cga>Aga p.R32R LRP6_ENST00000543091.1_Silent_p.R32R NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 32 Beta-propeller 1. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding p.R32*(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) TCAACCAATCGCAAGTCCCGT 0.413000 11 44 0.00244969 0.00328363 0.002450 1 0 BICD2 23299 broad.mit.edu 37 9 95477650 95477650 + Missense_Mutation SNP G G C TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr9:95477650G>C ENST00000356884.6 - 7 2421 c.2354C>G c.(2353-2355)gCc>gGc p.A785G BICD2_ENST00000375512.3_Missense_Mutation_p.A785G NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 785 Interacts with RAB6A (By similarity). microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CTGCTGGATGGCCATGCGCAG 0.637000 13 16 0 0 0.001368 0 0 ZNF846 162993 broad.mit.edu 37 19 9868372 9868372 + Missense_Mutation SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr19:9868372G>A ENST00000397902.2 - 6 1794 c.1381C>T c.(1381-1383)Cgt>Tgt p.R461C ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_3'UTR NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 461 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 TTTGTGGAACGAGCAAATGCT 0.433000 13 62 0 0 0.001855 0 0 KDM6A 7403 broad.mit.edu 37 X 44969495 44969495 + Splice_Site SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chrX:44969495G>A ENST00000377967.4 + 28 4217 c.e28+1 KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 ATTTACATTAGTAAGTCAAAT 0.378000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 28 33 0 0 0.003271 0 0 BPTF 2186 broad.mit.edu 37 17 65942002 65942002 + Missense_Mutation SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr17:65942002C>T ENST00000321892.4 + 23 7617 c.7556C>T c.(7555-7557)tCa>tTa p.S2519L BPTF_ENST00000424123.3_Missense_Mutation_p.S2380L|BPTF_ENST00000306378.6_Missense_Mutation_p.S2393L|BPTF_ENST00000335221.5_Missense_Mutation_p.S2519L Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2519 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CAGCCACAGTCACAACCCCAG 0.453000 5 88 0 0 0.001168 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 4 111 0 0 0.000602 0 0 ADAM18 8749 broad.mit.edu 37 8 39525629 39525629 + Missense_Mutation SNP G G T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr8:39525629G>T ENST00000265707.5 + 14 1484 c.1439G>T c.(1438-1440)gGc>gTc p.G480V ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.G456V NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 480 Cys-rich. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) GCATTGAATGGCCGTTTGTGC 0.408000 52 203 2.40265e-35 3.44016e-35 0.003610 1 0 EMILIN3 90187 broad.mit.edu 37 20 39991280 39991280 + Missense_Mutation SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr20:39991280C>T ENST00000332312.3 - 4 1121 c.929G>A c.(928-930)cGa>cAa p.R310Q NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 310 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) CCCCCAGAGTCGGTGCAGCCG 0.667000 3 19 0 0 0.000248 0 0 SCN9A 6335 broad.mit.edu 37 2 167089856 167089856 + Silent SNP T T A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr2:167089856T>A ENST00000375387.4 - 21 4261 c.3921A>T c.(3919-3921)ggA>ggT p.G1307G AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.G1295G|SCN9A_ENST00000409435.1_Silent_p.G1306G|SCN9A_ENST00000303354.6_Silent_p.G1307G Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1306 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TTACCCTCATTCCTTCAAATC 0.343000 4 8 0 0 0.000248 0 0 ADAM18 8749 broad.mit.edu 37 8 39525630 39525630 + Silent SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr8:39525630C>T ENST00000265707.5 + 14 1485 c.1440C>T c.(1438-1440)ggC>ggT p.G480G ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.G456G NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 480 Cys-rich. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CATTGAATGGCCGTTTGTGCA 0.403000 55 201 0 0 0.003610 0 0 GPKOW 27238 broad.mit.edu 37 X 48973489 48973489 + Missense_Mutation SNP G G A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chrX:48973489G>A ENST00000156109.5 - 6 886 c.808C>T c.(808-810)Cgg>Tgg p.R270W NM_015698.4 NP_056513.2 Q92917 GPKOW_HUMAN G patch domain and KOW motifs 270 nucleus nucleic acid binding breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2) 21 ACCATGGCCCGAACATTGTCA 0.547000 16 45 0 0 0.008871 0 0 ZAN 7455 broad.mit.edu 37 7 100349878 100349878 + RNA SNP C C T TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr7:100349878C>T ENST00000542585.1 + 0 2298 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.P717L(2) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCAGAAAAACCCACCATCCCC 0.507000 3 71 0 0 0.004672 0 0 EPG5 57724 broad.mit.edu 37 18 43497668 43497668 + Missense_Mutation SNP T T C TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr18:43497668T>C ENST00000282041.5 - 17 3249 c.3215A>G c.(3214-3216)cAg>cGg p.Q1072R NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1072 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 AAGGTAATACTGGCAAGGGTA 0.428000 45 126 0 0 0.003610 0 0 SPEN 23013 broad.mit.edu 37 1 16265833 16265834 + Frame_Shift_Del DEL GA GA - TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr1:16265833_16265834delGA ENST00000375759.3 + 15 11110_11111 c.10906_10907delGA c.(10906-10908)gfs p.E3636fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3636 SPOC. 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) TGAGTTCTCTGAGAGTCACCTG 0.584 80 347 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98031434 98031434 + RNA DEL A A - TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr3:98031434delA ENST00000508616.1 + 0 149 OR5H8P_ENST00000394191.2_RNA TTACAATCTTAAAAAAAAAAG 0.333 2 4 --- --- --- --- CCDC88C 440193 broad.mit.edu 37 14 91739301 91739303 + In_Frame_Del DEL CAG CAG - TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr14:91739301_91739303delCAG ENST00000389857.6 - 30 5839_5841 c.5753_5755delCTG c.(5752-5757)ggc>g p.AG1918del CCDC88C_ENST00000331194.7_In_Frame_Del_p.AG442del NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1918 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) CTGCCACTGCCAGCAGCAGCAGC 0.690 2 4 --- --- --- --- TRPM4 54795 broad.mit.edu 37 19 49700013 49700013 + Frame_Shift_Del DEL G G - TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr19:49700013delG ENST00000252826.5 + 17 2653 c.2527delG c.(2527-2529)ggfs p.G844fs TRPM4_ENST00000355712.5_Frame_Shift_Del_p.G490fs|TRPM4_ENST00000427978.2_Intron NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 844 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CCTCGCCAGCGGGGGCCCCGG 0.697 2 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 3 4 --- --- --- --- COL18A1 80781 broad.mit.edu 37 21 46913428 46913428 + Frame_Shift_Del DEL A A - TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr21:46913428delA ENST00000359759.4 + 25 3557 c.3536delA c.(3535-3537)gafs p.E1179fs COL18A1_ENST00000400337.2_Frame_Shift_Del_p.E764fs|COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.E944fs P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1179 Triple-helical region 5 (COL5). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GAGAAGGGTGAACCGGGCAGC 0.692 2 4 --- --- --- --- PARVG 64098 broad.mit.edu 37 22 44581708 44581708 + Frame_Shift_Del DEL C C - TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 ff40c43c-8061-4654-8af7-8200b006260c g.chr22:44581708delC ENST00000422871.1 + 4 524 c.100delC c.(100-102)cafs p.P35fs PARVG_ENST00000444313.2_Frame_Shift_Del_p.P35fs|PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000415224.1_Frame_Shift_Del_p.P35fs NM_001137605.1 NP_001131077.1 Q9HBI0 PARVG_HUMAN parvin, gamma 35 cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) GAAATACCTGCCACCCACTTC 0.587 10 56 --- --- --- --- SPEN 23013 broad.mit.edu 37 1 16265833 16265834 + Frame_Shift_Del DEL GA GA - TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr1:16265833_16265834delGA ENST00000375759.3 + 15 11110_11111 c.10906_10907delGA c.(10906-10908)gfs p.E3636fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3636 SPOC. 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) TGAGTTCTCTGAGAGTCACCTG 0.584 80 347 --- --- --- --- HDGFL1 154150 broad.mit.edu 37 6 22570346 22570347 + In_Frame_Ins INS - - GGC TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr6:22570346_22570347insGGC ENST00000510882.2 + 1 552_553 c.542_543insGGC c.(541-543)agc>aGGCgc p.181_181S>RR HDGFL1_ENST00000230012.3_In_Frame_Ins_p.181_181S>RR Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 181 Ala-rich.|Glu-rich. kidney(1)|large_intestine(3)|lung(7) 11 Ovarian(93;0.163) gaagcggagagggcggcggcgg 0.767 3 6 --- --- --- --- SFMBT2 57713 broad.mit.edu 37 10 7212995 7212997 + In_Frame_Del DEL CTC CTC - TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr10:7212995_7212997delCTC ENST00000361972.4 - 20 2527_2529 c.2437_2439delGAG c.(2437-2439)del p.E813del SFMBT2_ENST00000397167.1_In_Frame_Del_p.E813del NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 813 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 GAACCAGTCTCTCCTCCTCCTCC 0.596 7 273 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121125148 121125150 + In_Frame_Del DEL CTG CTG - TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr12:121125148_121125150delCTG ENST00000228506.3 + 1 477_479 c.49_51delCTG c.(49-51)del p.L22del MLEC_ENST00000412616.2_In_Frame_Del_p.L22del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 22 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gctcctgcgactgctgctgctgc 0.783 2 4 --- --- --- --- IRF2BPL 64207 broad.mit.edu 37 14 77493762 77493767 + In_Frame_Del DEL TGCTGC TGCTGC - TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr14:77493762_77493767delTGCTGC ENST00000238647.3 - 1 1267_1272 c.369_374delGCAGCA c.(367-375)caa>ca p.QQQ123del NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 123 Poly-Gln. nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 GAgctgttgttgctgctgctgctgct 0.714 6 1 --- --- --- --- CCDC88C 440193 broad.mit.edu 37 14 91739301 91739303 + In_Frame_Del DEL CAG CAG - TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr14:91739301_91739303delCAG ENST00000389857.6 - 30 5839_5841 c.5753_5755delCTG c.(5752-5757)ggc>g p.AG1918del CCDC88C_ENST00000331194.7_In_Frame_Del_p.AG442del NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1918 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) CTGCCACTGCCAGCAGCAGCAGC 0.690 2 4 --- --- --- --- ZFP90 146198 broad.mit.edu 37 16 68598462 68598463 + Frame_Shift_Ins INS - - A TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr16:68598462_68598463insA ENST00000570495.1 + 5 2064_2065 c.1772_1773insA c.(1771-1773)caafs p.Q591fs ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 591 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) AGAGCCTTCCGAAAAAAAACCA 0.411 9 300 --- --- --- --- RP13-516M14.2 0 broad.mit.edu 37 17 80173535 80173535 + RNA DEL C C - rs112012232 TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr17:80173535delC ENST00000581303.1 + 0 1371 tccttccctgccccccacact 0.701 4 8 --- --- --- --- TRPM4 54795 broad.mit.edu 37 19 49700013 49700013 + Frame_Shift_Del DEL G G - TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr19:49700013delG ENST00000252826.5 + 17 2653 c.2527delG c.(2527-2529)ggfs p.G844fs TRPM4_ENST00000427978.2_Intron|TRPM4_ENST00000355712.5_Frame_Shift_Del_p.G490fs NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 844 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CCTCGCCAGCGGGGGCCCCGG 0.697 2 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 3 4 --- --- --- --- COL18A1 80781 broad.mit.edu 37 21 46913428 46913428 + Frame_Shift_Del DEL A A - TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr21:46913428delA ENST00000359759.4 + 25 3557 c.3536delA c.(3535-3537)gafs p.E1179fs COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000400337.2_Frame_Shift_Del_p.E764fs|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.E944fs P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1179 Triple-helical region 5 (COL5). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GAGAAGGGTGAACCGGGCAGC 0.692 2 4 --- --- --- --- PARVG 64098 broad.mit.edu 37 22 44581708 44581708 + Frame_Shift_Del DEL C C - TCGA-EJ-7331-01A-11D-2114-08 TCGA-EJ-7331-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 532ff1cc-59ff-4078-a917-5e3934db4cc7 3e1ebe7d-89ed-4a54-b352-728fd861dce1 g.chr22:44581708delC ENST00000422871.1 + 4 524 c.100delC c.(100-102)cafs p.P35fs PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000444313.2_Frame_Shift_Del_p.P35fs|PARVG_ENST00000415224.1_Frame_Shift_Del_p.P35fs NM_001137605.1 NP_001131077.1 Q9HBI0 PARVG_HUMAN parvin, gamma 35 cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) GAAATACCTGCCACCCACTTC 0.587 10 56 --- --- --- ---