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 GABRD 2563 broad.mit.edu 37 1 1957026 1957026 + Missense_Mutation SNP G G A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr1:1957026G>A ENST00000378585.4 + 4 402 c.319G>A c.(319-321)Gag>Aag p.E107K NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 107 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CCACACCAACGAGACCCTGGG 0.637 9 87 --- --- --- --- PRAMEF2 65122 broad.mit.edu 37 1 12921405 12921405 + Missense_Mutation SNP G G A rs143742734 byFrequency TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr1:12921405G>A ENST00000240189.2 + 4 1283 c.1196G>A c.(1195-1197)cGc>cAc p.R399H NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 399 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GACCTGCTGCGCCACACCAGT 0.557 19 124 --- --- --- --- HPCA 3208 broad.mit.edu 37 1 33354639 33354639 + Missense_Mutation SNP A A G TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr1:33354639A>G ENST00000373467.3 + 2 242 c.140A>G c.(139-141)gAg>gGg p.E47G HPCA_ENST00000480118.1_3'UTR NM_002143.2 NP_002134.2 P84074 HPCA_HUMAN hippocalcin 47 EF-hand 1. actin binding|calcium ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) AATGTGGATGAGTTCAAGAAG 0.537 9 79 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152329230 152329230 + Missense_Mutation SNP G G C TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr1:152329230G>C ENST00000388718.5 - 3 1104 c.1032C>G c.(1030-1032)aaC>aaG p.N344K FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 344 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACTACAGGGGTTAGACTCAG 0.502 10 139 --- --- --- --- ANKRD45 339416 broad.mit.edu 37 1 173593981 173593981 + Missense_Mutation SNP C C G TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr1:173593981C>G ENST00000333279.2 - 5 735 c.675G>C c.(673-675)caG>caC p.Q225H NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 241 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 GTTGTTGTCTCTGCTCAAAAA 0.393 9 48 --- --- --- --- RNF103 7844 broad.mit.edu 37 2 86847496 86847496 + Missense_Mutation SNP T T C TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr2:86847496T>C ENST00000237455.4 - 2 1291 c.323A>G c.(322-324)tAt>tGt p.Y108C RNF103_ENST00000477307.1_5'UTR|CHMP3_ENST00000439940.2_Missense_Mutation_p.Y30C|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.Y30C NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 108 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 CACAAGCTCATAGAAGTGCAT 0.403 11 71 --- --- --- --- SAP130 79595 broad.mit.edu 37 2 128703100 128703100 + Missense_Mutation SNP T T C TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr2:128703100T>C ENST00000357702.5 - 19 3040 c.2909A>G c.(2908-2910)aAt>aGt p.N970S SAP130_ENST00000259235.3_Missense_Mutation_p.N935S|SAP130_ENST00000259234.6_Missense_Mutation_p.N943S NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 935 Interactions with SIN3A and HDAC1. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) TCCTTTCTGATTAGCTATTTC 0.408 4 68 --- --- --- --- THSD7B 80731 broad.mit.edu 37 2 137814399 137814399 + Silent SNP T T G TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr2:137814399T>G ENST00000409968.1 + 3 727 c.549T>G c.(547-549)tcT>tcG p.S183S THSD7B_ENST00000413152.2_Silent_p.S152S|THSD7B_ENST00000543459.1_Silent_p.S42S|THSD7B_ENST00000272643.3_Silent_p.S183S thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GTGTAGTATCTGAGTTCTTAC 0.493 13 246 --- --- --- --- SCN1A 6323 broad.mit.edu 37 2 166859166 166859166 + Missense_Mutation SNP T T C TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr2:166859166T>C ENST00000423058.2 - 21 4117 c.4100A>G c.(4099-4101)aAt>aGt p.N1367S SCN1A_ENST00000375405.3_Missense_Mutation_p.N1356S|SCN1A_ENST00000303395.4_Missense_Mutation_p.N1367S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1339S NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1367 N -> K (in SMEI; dbSNP:rs121918760). voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGCAAACAAATTTACGCCCAT 0.388 6 68 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179605764 179605764 + Missense_Mutation SNP C C G TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr2:179605764C>G ENST00000589042.1 - 48 12420 c.12196G>C c.(12196-12198)Gac>Cac p.D4066H TTN_ENST00000591111.1_Missense_Mutation_p.D3749H|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.D3828H|TTN_ENST00000460472.2_Missense_Mutation_p.D3703H|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D3895H|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3749 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCTCTGAGTCAAGTGCTTCA 0.438 48 132 --- --- --- --- EXOC1 55763 broad.mit.edu 37 4 56744213 56744213 + Missense_Mutation SNP A A G TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr4:56744213A>G ENST00000381295.2 + 9 1553 c.1205A>G c.(1204-1206)aAa>aGa p.K402R EXOC1_ENST00000349598.6_Missense_Mutation_p.K402R|EXOC1_ENST00000346134.7_Missense_Mutation_p.K402R NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 402 exocytosis|protein transport exocyst protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) GATTATGGAAAATATGAAGGA 0.383 25 66 --- --- --- --- PCDHA5 56143 broad.mit.edu 37 5 140202764 140202764 + Silent SNP G G A rs17844294 TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr5:140202764G>A ENST00000529859.1 + 1 1404 c.1404G>A c.(1402-1404)ccG>ccA p.P468P PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.P468P|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.P468P NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAACAACCCGCCAGGCTGCC 0.677 26 125 --- --- --- --- PCDHA7 56141 broad.mit.edu 37 5 140214180 140214180 + Missense_Mutation SNP G G A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr5:140214180G>A ENST00000525929.1 + 1 212 c.212G>A c.(211-213)cGt>cAt p.R71H PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R71H NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAAATTCCGTGGGGATCTT 0.617 15 247 --- --- --- --- FBXO38 81545 broad.mit.edu 37 5 147796680 147796680 + Missense_Mutation SNP A A C TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr5:147796680A>C ENST00000340253.5 + 12 1699 c.1531A>C c.(1531-1533)Aac>Cac p.N511H FBXO38_ENST00000296701.6_Missense_Mutation_p.N511H|FBXO38_ENST00000394370.3_Missense_Mutation_p.N511H|FBXO38_ENST00000513826.1_Missense_Mutation_p.N511H Q6PIJ6 FBX38_HUMAN F-box protein 38 511 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCCACGACAACAATCACCA 0.473 12 31 --- --- --- --- PKHD1 5314 broad.mit.edu 37 6 51612955 51612955 + Missense_Mutation SNP A A C TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr6:51612955A>C ENST00000371117.3 - 58 9734 c.9459T>G c.(9457-9459)ttT>ttG p.F3153L PKHD1_ENST00000340994.4_Missense_Mutation_p.F3153L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3153 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CACCATAGTCAAAGTTCTTGA 0.408 16 209 --- --- --- --- FAM83B 222584 broad.mit.edu 37 6 54805411 54805411 + Missense_Mutation SNP C C A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr6:54805411C>A ENST00000306858.7 + 5 1758 c.1642C>A c.(1642-1644)Ccc>Acc p.P548T NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 548 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AGTATTTAAACCCACTTTACC 0.423 5 64 --- --- --- --- PDE10A 10846 broad.mit.edu 37 6 165752808 165752808 + Missense_Mutation SNP T T C TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr6:165752808T>C ENST00000366882.1 - 21 2261 c.2107A>G c.(2107-2109)Atg>Gtg p.M703V PDE10A_ENST00000539869.2_Missense_Mutation_p.M713V|PDE10A_ENST00000354448.4_Missense_Mutation_p.M703V Q9Y233 PDE10_HUMAN phosphodiesterase 10A 703 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) CTGTCCATCATAGGAATAGGC 0.353 4 126 --- --- --- --- KLHL7 55975 broad.mit.edu 37 7 23207656 23207656 + Splice_Site SNP C C G TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr7:23207656C>G ENST00000339077.5 + 9 1622 c.1379C>G c.(1378-1380)aCa>aGa p.T460R KLHL7_ENST00000539124.1_Splice_Site_p.T384R|KLHL7_ENST00000409689.1_Splice_Site_p.T412R|KLHL7_ENST00000542558.1_Splice_Site_p.T235R|KLHL7_ENST00000545443.1_Splice_Site_p.T438R|KLHL7_ENST00000322231.7_Splice_Site_p.T438R NM_001031710.2 NP_001026880.2 Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 Golgi apparatus|nucleolus|plasma membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GCCACAGAAACGTATGTATCT 0.368 4 42 --- --- --- --- FKBP9L 360132 broad.mit.edu 37 7 55755596 55755596 + RNA SNP G G T TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr7:55755596G>T ENST00000455909.1 - 0 410 NR_027340.1|NR_027342.1 FK506 binding protein 9-like endometrium(1)|kidney(1)|lung(3) 5 GAACAATACTGTAAGTTTTGC 0.478 9 75 --- --- --- --- ERLIN2 11160 broad.mit.edu 37 8 37601885 37601885 + Missense_Mutation SNP G G A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr8:37601885G>A ENST00000276461.5 + 5 316 c.249G>A c.(247-249)atG>atA p.M83I ERLIN2_ENST00000523107.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000519638.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000397228.2_Missense_Mutation_p.M83I|ERLIN2_ENST00000523887.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000518586.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000335171.6_Missense_Mutation_p.M83I NM_007175.6 NP_009106.1 O94905 ERLN2_HUMAN ER lipid raft associated 2 83 ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane protein binding NS(1)|large_intestine(1)|lung(5) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GTGGTGTGATGATCTACTTTG 0.507 18 257 --- --- --- --- ERLIN2 11160 broad.mit.edu 37 8 37602094 37602094 + Missense_Mutation SNP G G A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr8:37602094G>A ENST00000276461.5 + 6 371 c.304G>A c.(304-306)Gat>Aat p.D102N ERLIN2_ENST00000523107.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000519638.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000397228.2_Missense_Mutation_p.D102N|ERLIN2_ENST00000523887.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000518586.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000335171.6_Missense_Mutation_p.D102N NM_007175.6 NP_009106.1 O94905 ERLN2_HUMAN ER lipid raft associated 2 102 ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane protein binding NS(1)|large_intestine(1)|lung(5) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CTCAGTGTATGATATAGTGAA 0.478 11 115 --- --- --- --- ERLIN2 11160 broad.mit.edu 37 8 37602102 37602102 + Silent SNP G G A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr8:37602102G>A ENST00000276461.5 + 6 379 c.312G>A c.(310-312)gtG>gtA p.V104V ERLIN2_ENST00000523107.1_Silent_p.V104V|ERLIN2_ENST00000519638.1_Silent_p.V104V|ERLIN2_ENST00000397228.2_Silent_p.V104V|ERLIN2_ENST00000523887.1_Silent_p.V104V|ERLIN2_ENST00000518586.1_Silent_p.V104V|ERLIN2_ENST00000335171.6_Silent_p.V104V NM_007175.6 NP_009106.1 O94905 ERLN2_HUMAN ER lipid raft associated 2 104 ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane protein binding NS(1)|large_intestine(1)|lung(5) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) ATGATATAGTGAAGAACTATA 0.478 10 120 --- --- --- --- ERLIN2 11160 broad.mit.edu 37 8 37611003 37611003 + Missense_Mutation SNP G G C TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr8:37611003G>C ENST00000276461.5 + 11 842 c.775G>C c.(775-777)Gat>Cat p.D259H ERLIN2_ENST00000519638.1_Missense_Mutation_p.D259H NM_007175.6 NP_009106.1 O94905 ERLN2_HUMAN ER lipid raft associated 2 259 Interaction with ERLIN1. ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane protein binding NS(1)|large_intestine(1)|lung(5) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GGCAAAGGCAGATGCTGAGTG 0.498 3 54 --- --- --- --- ADCY8 114 broad.mit.edu 37 8 131916039 131916039 + Missense_Mutation SNP A A T TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr8:131916039A>T ENST00000286355.5 - 7 3982 c.1890T>A c.(1888-1890)gaT>gaA p.D630E ADCY8_ENST00000377928.3_Missense_Mutation_p.D630E NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 630 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CCACGATATTATCAAAGGGCA 0.502 HNSCC(32;0.087) 10 73 --- --- --- --- DAPK1 1612 broad.mit.edu 37 9 90261436 90261436 + Missense_Mutation SNP C C G TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr9:90261436C>G ENST00000469640.2 + 13 1567 c.1192C>G c.(1192-1194)Ctc>Gtc p.L398V DAPK1_ENST00000408954.3_Missense_Mutation_p.L398V|DAPK1_ENST00000358077.5_Missense_Mutation_p.L398V|DAPK1_ENST00000491893.1_Missense_Mutation_p.L398V|DAPK1_ENST00000472284.1_Missense_Mutation_p.L398V P53355 DAPK1_HUMAN death-associated protein kinase 1 398 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 ACTACAGTTGCTCATTAAAAG 0.343 Chronic Lymphocytic Leukemia, Familial Clustering of 14 58 --- --- --- --- DIP2C 22982 broad.mit.edu 37 10 323440 323440 + Missense_Mutation SNP A A G TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr10:323440A>G ENST00000280886.6 - 37 4583 c.4496T>C c.(4495-4497)gTt>gCt p.V1499A NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 1499 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CACCAAGGGAACCAGGTCCAA 0.542 5 40 --- --- --- --- ZEB1 6935 broad.mit.edu 37 10 31810040 31810040 + Missense_Mutation SNP T T A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr10:31810040T>A ENST00000446923.2 + 7 2120 c.1729T>A c.(1729-1731)Ttg>Atg p.L577M ZEB1_ENST00000542815.3_Missense_Mutation_p.L526M|ZEB1_ENST00000320985.10_Missense_Mutation_p.L593M|ZEB1_ENST00000361642.5_Missense_Mutation_p.L594M|ZEB1_ENST00000560721.2_Missense_Mutation_p.L573M|ZEB1_ENST00000559858.1_3'UTR NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 593 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) AAAGAACCTCTTGTCTCTCCT 0.438 8 84 --- --- --- --- PLAU 5328 broad.mit.edu 37 10 75673797 75673797 + Missense_Mutation SNP A A G TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr10:75673797A>G ENST00000446342.1 + 7 1171 c.689A>G c.(688-690)aAc>aGc p.N230S C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.N211S|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.N247S NM_001145031.1 NP_001138503 P00749 UROK_HUMAN plasminogen activator, urokinase 247 Peptidase S1. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2) 16 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) CTTAACTCCAACACGCAAGGG 0.502 6 54 --- --- --- --- TTC40 54777 broad.mit.edu 37 10 134622066 134622066 + Silent SNP C C G TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr10:134622066C>G ENST00000368586.5 - 58 8107 c.8007G>C c.(8005-8007)ctG>ctC p.L2669L TTC40_ENST00000263170.5_Silent_p.L830L NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 830 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 ATGGCGCACACAGGCAGGCAG 0.706 11 52 --- --- --- --- HBE1 3046 broad.mit.edu 37 11 5289795 5289795 + Silent SNP A A T TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr11:5289795A>T ENST00000380237.1 - 5 692 c.348T>A c.(346-348)gcT>gcA p.A116A HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Silent_p.A116A|HBG2_ENST00000380252.1_Intron P02100 HBE_HUMAN hemoglobin, epsilon 1 116 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAAAGTGAGTAGCCAGAATAA 0.488 19 135 --- --- --- --- SLC5A12 159963 broad.mit.edu 37 11 26743040 26743040 + Silent SNP G G T TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr11:26743040G>T ENST00000396005.3 - 1 531 c.222C>A c.(220-222)gtC>gtA p.V74V SLC5A12_ENST00000280467.6_Silent_p.V74V NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 74 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 CAAAGCGGTAGACTTCAGAAG 0.512 7 74 --- --- --- --- PTPRJ 5795 broad.mit.edu 37 11 48161138 48161138 + Silent SNP G G A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr11:48161138G>A ENST00000418331.2 + 11 2605 c.2253G>A c.(2251-2253)gaG>gaA p.E751E NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 751 Fibronectin type-III 8. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 CAGGCTTTGAGCTGGAGGTCA 0.562 5 53 --- --- --- --- OR5AS1 219447 broad.mit.edu 37 11 55798549 55798549 + Missense_Mutation SNP T T A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr11:55798549T>A ENST00000313555.1 + 1 655 c.655T>A c.(655-657)Ttc>Atc p.F219I NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) TATTTCTTACTTCTGCATCCT 0.438 13 189 --- --- --- --- FAM111A 63901 broad.mit.edu 37 11 58919681 58919681 + Silent SNP A A G TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr11:58919681A>G ENST00000528737.1 + 5 3358 c.540A>G c.(538-540)gaA>gaG p.E180E FAM111A_ENST00000420244.1_Silent_p.E180E|FAM111A_ENST00000361723.3_Silent_p.E180E|FAM111A_ENST00000531147.1_Silent_p.E180E|FAM111A_ENST00000533703.1_Silent_p.E180E Q96PZ2 F111A_HUMAN family with sequence similarity 111, member A 180 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) CATCGACTGAATGTGTCAAAT 0.408 16 90 --- --- --- --- GLB1L3 112937 broad.mit.edu 37 11 134181019 134181019 + Silent SNP G G A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr11:134181019G>A ENST00000431683.2 + 13 1242 c.1242G>A c.(1240-1242)ccG>ccA p.P414P NM_001080407.2 NP_001073876.2 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 414 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) CCGTGAGACCGTCGCTGTACC 0.622 22 364 --- --- --- --- STAB2 55576 broad.mit.edu 37 12 104107521 104107521 + Silent SNP C C T TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr12:104107521C>T ENST00000388887.2 + 42 4716 c.4512C>T c.(4510-4512)taC>taT p.Y1504Y NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1504 EGF-like 12. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AAGCAGGCTACACGGGTGATG 0.517 19 203 --- --- --- --- OR5AU1 390445 broad.mit.edu 37 14 21624148 21624148 + Missense_Mutation SNP T T C TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr14:21624148T>C ENST00000304418.3 - 1 74 c.37A>G c.(37-39)Ata>Gta p.I13V NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) ATGAGTCTTATTGAGGGCATT 0.448 12 148 --- --- --- --- RNF31 55072 broad.mit.edu 37 14 24618082 24618082 + Missense_Mutation SNP C C A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr14:24618082C>A ENST00000324103.6 + 5 948 c.628C>A c.(628-630)Cca>Aca p.P210T RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000382687.3_Missense_Mutation_p.P59T|RNF31_ENST00000559275.1_Missense_Mutation_p.P59T NM_017999.4 NP_060469.4 Q96EP0 RNF31_HUMAN ring finger protein 31 210 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) ACCCTCTGTCCCAGGTATTAT 0.458 16 171 --- --- --- --- RHOJ 57381 broad.mit.edu 37 14 63671716 63671716 + Silent SNP C C T TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr14:63671716C>T ENST00000316754.3 + 1 591 c.129C>T c.(127-129)aaC>aaT p.N43N RHOJ_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_Silent_p.N43N NM_020663.4 NP_065714.1 Q9H4E5 RHOJ_HUMAN ras homolog family member J 43 actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) GCTACGCCAACGACGCCTTCC 0.572 7 50 --- --- --- --- SPTB 6710 broad.mit.edu 37 14 65246524 65246524 + Silent SNP C C T TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr14:65246524C>T ENST00000389722.3 - 20 4445 c.4392G>A c.(4390-4392)ctG>ctA p.L1464L SPTB_ENST00000556626.1_Silent_p.L1464L|SPTB_ENST00000542895.1_Silent_p.L1464L|SPTB_ENST00000389720.3_Silent_p.L1464L|SPTB_ENST00000389721.5_Silent_p.L1464L NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1464 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTAGGGGTTCCAGGAGGTCCA 0.582 6 133 --- --- --- --- IGHV3-11 28450 broad.mit.edu 37 14 106573439 106573439 + RNA SNP T T A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr14:106573439T>A ENST00000390601.2 - 0 264 TAGTAGTCACTGAAGGTGAAT 0.557 28 190 --- --- --- --- IQGAP1 8826 broad.mit.edu 37 15 91040570 91040570 + Nonsense_Mutation SNP C C T TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr15:91040570C>T ENST00000268182.5 + 37 4982 c.4858C>T c.(4858-4860)Cag>Tag p.Q1620* IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q1048* NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1620 C2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) GTTACATTATCAGGTGGGTAT 0.388 14 29 --- --- --- --- AXIN2 8313 broad.mit.edu 37 17 63553974 63553974 + Silent SNP C C G TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr17:63553974C>G ENST00000307078.5 - 2 1078 c.765G>C c.(763-765)ctG>ctC p.L255L AXIN2_ENST00000375702.5_Silent_p.L255L|CTD-2535L24.2_ENST00000577662.1_3'UTR NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 255 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 CCGTGGCCCTCAGAGTTTTGC 0.547 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 5 98 --- --- --- --- CAMSAP3 57662 broad.mit.edu 37 19 7682254 7682254 + Silent SNP T T C TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr19:7682254T>C ENST00000446248.2 + 17 3437 c.3336T>C c.(3334-3336)ccT>ccC p.P1112P CAMSAP3_ENST00000160298.4_Silent_p.P1085P NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 1085 CKK. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 GCCGCCTGCCTGGAAGCCGCG 0.637 4 68 --- --- --- --- KANK2 25959 broad.mit.edu 37 19 11304613 11304613 + Missense_Mutation SNP T T C TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr19:11304613T>C ENST00000432929.2 - 4 503 c.143A>G c.(142-144)aAg>aGg p.K48R KANK2_ENST00000589359.1_Missense_Mutation_p.K48R|KANK2_ENST00000589894.1_Missense_Mutation_p.K48R|KANK2_ENST00000355150.5_Missense_Mutation_p.K48R|KANK2_ENST00000586659.1_Missense_Mutation_p.K48R NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 48 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 ATCCACGTACTTGAGGAAGTC 0.692 17 52 --- --- --- --- ZNF443 10224 broad.mit.edu 37 19 12541355 12541355 + Missense_Mutation SNP T T A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr19:12541355T>A ENST00000301547.5 - 4 1828 c.1631A>T c.(1630-1632)tAt>tTt p.Y544F CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 544 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 TAAGTTATCATAATGACCGAA 0.398 9 60 --- --- --- --- PCSK2 5126 broad.mit.edu 37 20 17436993 17436993 + Splice_Site SNP G G A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr20:17436993G>A ENST00000262545.2 + 10 1417 c.1102G>A c.(1102-1104)Gca>Aca p.A368T PCSK2_ENST00000536609.1_Splice_Site_p.A333T|PCSK2_ENST00000377899.1_Splice_Site_p.A349T NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 368 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCCCTTCCAGGCAACCACAGA 0.488 15 180 --- --- --- --- FRG1B 284802 broad.mit.edu 37 20 29633899 29633899 + Splice_Site SNP G G A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr20:29633899G>A ENST00000278882.3 + 9 918 c.538G>A c.(538-540)Gaa>Aaa p.E180K FRG1B_ENST00000358464.4_Splice_Site_p.E180K endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTAAACAAGAGAACCAAATTG 0.269 3 40 --- --- --- --- MN1 4330 broad.mit.edu 37 22 28196380 28196380 + Missense_Mutation SNP G G A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr22:28196380G>A ENST00000302326.4 - 1 1106 c.152C>T c.(151-153)gCt>gTt p.A51V NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 51 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 CGCGCTCATAGCAGGATCCAC 0.647 T ETV6 """AML, meningioma""" 6 81 --- --- --- --- SEC14L3 266629 broad.mit.edu 37 22 30866203 30866203 + Missense_Mutation SNP C C T TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr22:30866203C>T ENST00000215812.4 - 3 260 c.170G>A c.(169-171)cGc>cAc p.R57H SEC14L3_ENST00000415957.2_5'UTR|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR NM_174975.4 NP_777635.1 Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 57 integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) TCTCACCTTGCGGAGCAAAGC 0.527 3 33 --- --- --- --- ZC3H7B 23264 broad.mit.edu 37 22 41735080 41735080 + Missense_Mutation SNP T T G TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr22:41735080T>G ENST00000352645.4 + 9 958 c.701T>G c.(700-702)cTg>cGg p.L234R ZC3H7B_ENST00000351589.4_Missense_Mutation_p.L234R NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 250 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CCTCACGTTCTGGACCTGCTG 0.667 64 133 --- --- --- --- NHS 4810 broad.mit.edu 37 X 17750102 17750102 + Missense_Mutation SNP A A G TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chrX:17750102A>G ENST00000380060.3 + 8 4749 c.4411A>G c.(4411-4413)Aca>Gca p.T1471A NHS_ENST00000398097.3_Missense_Mutation_p.T1315A NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 1471 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) CAGTAATGTGACAACCCCCAA 0.493 14 82 --- --- --- --- GABRE 2564 broad.mit.edu 37 X 151124292 151124292 + Missense_Mutation SNP C C G TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chrX:151124292C>G ENST00000370325.1 - 7 878 c.825G>C c.(823-825)agG>agC p.R275S GABRE_ENST00000370328.3_Missense_Mutation_p.R275S|GABRE_ENST00000483564.1_5'UTR P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 275 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) AGCCAAACCGCCTGCTCACAT 0.488 13 50 --- --- --- --- UBXN4 23190 broad.mit.edu 37 2 136536538 136536540 + In_Frame_Del DEL TAA TAA - TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr2:136536538_136536540delTAA ENST00000272638.9 + 11 1385_1387 c.1074_1076delTAA c.(1072-1077)ggtaat>ggt p.N359del UBXN4_ENST00000490163.1_3'UTR NM_014607.3 NP_055422.1 Q92575 UBXN4_HUMAN UBX domain protein 4 359 UBX. response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 24 ACACTTACGGTAATTTTTCGTTA 0.350 9 81 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32091103 32091104 + Frame_Shift_Ins INS - - C TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr5:32091103_32091104insC ENST00000438447.1 + 20 7937_7938 c.7549_7550insC c.(7549-7551)accfs p.T2517fs PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T2517fs O15018 PDZD2_HUMAN PDZ domain containing 2 2517 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GCTGGAGATCACCCCCAGGAGG 0.614 9 93 --- --- --- --- VCPIP1 80124 broad.mit.edu 37 8 67578194 67578195 + Frame_Shift_Ins INS - - A TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr8:67578194_67578195insA ENST00000310421.4 - 1 1257_1258 c.999_1000insT c.(997-1002)actgggfs p.G334fs NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 334 OTU. protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) CCATCTTTCCCAGTGCACTTCT 0.470 13 146 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7576890 7576890 + Frame_Shift_Del DEL T T - TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chr17:7576890delT ENST00000420246.2 - 9 1088 c.956delA c.(955-957)aagfs p.K321fs TP53_ENST00000269305.4_Frame_Shift_Del_p.K321fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.K321fs|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 321 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2. K -> E (in kidney cancer; germline mutation).|K -> R (in a sporadic cancer; somatic mutation). 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.0?(8)|p.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K319R(1)|p.S314fs*25(1)|p.L308fs*15(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) TGGTTTCTTCTTTGGCTGGGG 0.468 111 """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) 23 40 --- --- --- --- BRCC3 79184 broad.mit.edu 37 X 154305487 154305487 + Frame_Shift_Del DEL T T - TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fe17b0c-48f1-4379-8572-d415746ee01b 9815ad1d-4855-4da4-839c-ffcf705347d3 g.chrX:154305487delT ENST00000369462.1 + 4 263 c.238delT c.(238-240)ttafs p.L80fs MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000399042.1_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000369459.2_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000340647.4_Frame_Shift_Del_p.L81fs NM_024332.3 NP_077308.1 P46736 BRCC3_HUMAN BRCA1/BRCA2-containing complex, subunit 3 80 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1) 22 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGTCATCATCTTACGACGTTC 0.433 21 23 --- --- --- ---